Canonical Allele Identifier: CA2830556602
Gene: CYP1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750254_74750255insCC , CM000677.2:g.74750254_74750255insCC GRCh38
NC_000015.9:g.75042595_75042596insCC , CM000677.1:g.75042595_75042596insCC GRCh37
NC_000015.8:g.72829648_72829649insCC NCBI36
NG_008431.1:g.32713_32714insCC
NG_008431.2:g.32713_32714insCC
NG_061543.1:g.6410_6411insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.516_517insCC MANE Select ENSP00000342007.4:p.Ile173ProfsTer8
ENST00000343932.4:c.516_517insCC ENSP00000342007.4:p.Ile173ProfsTer8
NM_000761.4:c.516_517insCC NP_000752.2:p.Ile173ProfsTer8
NM_000761.5:c.516_517insCC MANE Select NP_000752.2:p.Ile173ProfsTer8
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