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ariant","hugoGeneSymbol":"CDKN2A","hgvspShort":"p.G84Rfs*12","hgvsp":"p.Gly84ArgfsTer12","hgvsc":"ENST00000498628.2:c.248_249dup","proteinPosition":{"start":83,"end":84},"variantClassification":"Frame_Shift_Ins","exon":"2/3","uniprotId":"P42771-2"},{"transcriptId":"ENST00000530628","entrezGeneId":"1029","consequenceTerms":"intron_variant","hugoGeneSymbol":"CDKN2A","hgvsc":"ENST00000530628.2:c.*27+18_*27+19dup","variantClassification":"Intron","uniprotId":"Q8N726"},{"transcriptId":"ENST00000577854","entrezGeneId":"1029","consequenceTerms":"upstream_gene_variant","hugoGeneSymbol":"CDKN2A","variantClassification":"5'Flank"},{"transcriptId":"ENST00000578845","codonChange":"-/CG","aminoAcids":"-/X","aminoAcidRef":"-","aminoAcidAlt":"X","entrezGeneId":"1029","consequenceTerms":"frameshift_variant","hugoGeneSymbol":"CDKN2A","hgvspShort":"p.G84Rfs*12","hgvsp":"p.Gly84ArgfsTer12","hgvsc":"ENST00000578845.2:c.248_249dup","proteinPosition":{"start":83,"end":84},"variantClassification":"Frame_Shift_Ins","exon":"1/2","uniprotId":"P42771-2"},{"transcriptId":"ENST00000579122","entrezGeneId":"1029","consequenceTerms":"intron_variant","hugoGeneSymbol":"CDKN2A","hgvspShort":"p.*128*","hgvsc":"ENST00000579122.1:c.383+18_383+19dup","variantClassification":"Intron"},{"transcriptId":"ENST00000579755","entrezGeneId":"1029","consequenceTerms":"3_prime_UTR_variant","hugoGeneSymbol":"CDKN2A","hgvsc":"ENST00000579755.1:c.*45_*46dup","variantClassification":"3'UTR","exon":"2/3","uniprotId":"Q8N726"}],"transcriptConsequenceSummary":{"transcriptId":"ENST00000304494","codonChange":"-/CG","aminoAcids":"-/X","aminoAcidRef":"-","aminoAcidAlt":"X","entrezGeneId":"1029","consequenceTerms":"frameshift_variant","hugoGeneSymbol":"CDKN2A","hgvspShort":"p.G135Rfs*12","hgvsp":"p.Gly135ArgfsTer12","hgvsc":"ENST00000304494.5:c.401_402dup","proteinPosition":{"start":134,"end":135},"refSeq":"NM_000077.4","variantClassification":"Frame_Shift_Ins","exon":"2/3","uniprotId":"P42771"}}}