Canonical Allele Identifier: CA2830556604
Gene: CYP1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750264_74750265insCC , CM000677.2:g.74750264_74750265insCC GRCh38
NC_000015.9:g.75042605_75042606insCC , CM000677.1:g.75042605_75042606insCC GRCh37
NC_000015.8:g.72829658_72829659insCC NCBI36
NG_008431.1:g.32723_32724insCC
NG_008431.2:g.32723_32724insCC
NG_061543.1:g.6420_6421insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.526_527insCC MANE Select ENSP00000342007.4:p.Leu176SerfsTer5
ENST00000343932.4:c.526_527insCC ENSP00000342007.4:p.Leu176SerfsTer5
NM_000761.4:c.526_527insCC NP_000752.2:p.Leu176SerfsTer5
NM_000761.5:c.526_527insCC MANE Select NP_000752.2:p.Leu176SerfsTer5