{"variant":"17:g.41242962_41242963insGA","colocatedVariants":[{"dbSnpId":"rs80357742"}],"originalVariantQuery":"17:g.41242962_41242963insGA","hgvsg":"17:g.41242962_41242963insGA","id":"17:g.41242962_41242963insGA","assembly_name":"GRCh37","seq_region_name":"17","start":41242963,"end":41242962,"allele_string":"-/GA","strand":1,"most_severe_consequence":"frameshift_variant","transcript_consequences":[{"exon":"10/22","transcript_id":"ENST00000309486","hgvsp":"ENSP00000310938.4:p.Gln1099LeufsTer11","hgvsc":"ENST00000309486.4:c.3294_3295dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000310938","protein_start":1099,"protein_end":1099,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","refseq_transcript_ids":["NM_007297.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"11/19","transcript_id":"ENST00000346315","hgvsp":"ENSP00000246907.4:p.Gln1395LeufsTer11","hgvsc":"ENST00000346315.3:c.4182_4183dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000246907","protein_start":1395,"protein_end":1395,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"7/19","transcript_id":"ENST00000351666","hgvsp":"ENSP00000338007.3:p.Gln212LeufsTer11","hgvsc":"ENST00000351666.3:c.633_634dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000338007","protein_start":212,"protein_end":212,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"10/22","transcript_id":"ENST00000352993","hgvsp":"ENSP00000312236.5:p.Gln253LeufsTer11","hgvsc":"ENST00000352993.3:c.756_757dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000312236","protein_start":253,"protein_end":253,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"11/18","transcript_id":"ENST00000354071","hgvsp":"ENSP00000326002.6:p.Gln1395LeufsTer11","hgvsc":"ENST00000354071.3:c.4182_4183dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000326002","protein_start":1395,"protein_end":1395,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"11/23","transcript_id":"ENST00000357654","hgvsp":"ENSP00000350283.3:p.Gln1395LeufsTer11","hgvsc":"ENST00000357654.3:c.4182_4183dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000350283","protein_start":1395,"protein_end":1395,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","canonical":"1","refseq_transcript_ids":["NM_007294.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000412061","variant_allele":"GA","protein_id":"ENSP00000397145","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"11/23","transcript_id":"ENST00000461221","hgvsc":"ENST00000461221.1:c.*3965_*3966dup","variant_allele":"GA","protein_id":"ENSP00000418548","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["splice_region_variant","3_prime_UTR_variant","NMD_transcript_variant"]},{"exon":"2/4","transcript_id":"ENST00000461574","hgvsp":"ENSP00000417241.1:p.Gln160LeufsTer11","hgvsc":"ENST00000461574.1:c.476_477dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000417241","protein_start":160,"protein_end":160,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000467274","variant_allele":"GA","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"11/22","transcript_id":"ENST00000468300","hgvsp":"ENSP00000417148.1:p.Gln292LeufsTer11","hgvsc":"ENST00000468300.1:c.873_874dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000417148","protein_start":292,"protein_end":292,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","refseq_transcript_ids":["NM_007299.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000470026","variant_allele":"GA","protein_id":"ENSP00000419274","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"11/24","transcript_id":"ENST00000471181","hgvsp":"ENSP00000418960.2:p.Gln1395LeufsTer11","hgvsc":"ENST00000471181.2:c.4182_4183dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000418960","protein_start":1395,"protein_end":1395,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","refseq_transcript_ids":["NM_007300.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000473961","variant_allele":"GA","protein_id":"ENSP00000420201","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"transcript_id":"ENST00000476777","variant_allele":"GA","protein_id":"ENSP00000417554","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"transcript_id":"ENST00000477152","variant_allele":"GA","protein_id":"ENSP00000419988","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"11/18","transcript_id":"ENST00000478531","hgvsp":"ENSP00000420412.1:p.Gln291LeufsTer11","hgvsc":"ENST00000478531.1:c.870_871dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000420412","protein_start":291,"protein_end":291,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"5/12","transcript_id":"ENST00000484087","hgvsp":"ENSP00000419481.1:p.Gln166LeufsTer11","hgvsc":"ENST00000484087.1:c.495_496dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000419481","protein_start":166,"protein_end":166,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"5/7","transcript_id":"ENST00000487825","hgvsp":"ENSP00000418212.1:p.Gln167LeufsTer11","hgvsc":"ENST00000487825.1:c.498_499dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000418212","protein_start":167,"protein_end":167,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"11/23","transcript_id":"ENST00000491747","hgvsp":"ENSP00000420705.2:p.Gln292LeufsTer11","hgvsc":"ENST00000491747.2:c.873_874dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000420705","protein_start":292,"protein_end":292,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","refseq_transcript_ids":["NM_007298.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000492859","variant_allele":"GA","protein_id":"ENSP00000420253","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"10/22","transcript_id":"ENST00000493795","hgvsp":"ENSP00000418775.1:p.Gln1348LeufsTer11","hgvsc":"ENST00000493795.1:c.4041_4042dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000418775","protein_start":1348,"protein_end":1348,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"10/17","transcript_id":"ENST00000493919","hgvsp":"ENSP00000418819.1:p.Gln245LeufsTer11","hgvsc":"ENST00000493919.1:c.732_733dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000418819","protein_start":245,"protein_end":245,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000494123","variant_allele":"GA","protein_id":"ENSP00000419103","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"transcript_id":"ENST00000497488","variant_allele":"GA","protein_id":"ENSP00000418986","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"transcript_id":"ENST00000586385","hgvsc":"ENST00000586385.1:c.5-26996_5-26995dup","variant_allele":"GA","protein_id":"ENSP00000465818","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["intron_variant"]},{"transcript_id":"ENST00000591534","hgvsc":"ENST00000591534.1:c.-43-16426_-43-16425dup","variant_allele":"GA","protein_id":"ENSP00000467329","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["intron_variant"]},{"transcript_id":"ENST00000591849","hgvsc":"ENST00000591849.1:c.-99+34324_-99+34325dup","variant_allele":"GA","protein_id":"ENSP00000465347","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["intron_variant"]}],"successfully_annotated":true}