Canonical Allele Identifier: CA2830556606
Gene: CYP1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750271_74750272insCCT , CM000677.2:g.74750271_74750272insCCT GRCh38
NC_000015.9:g.75042612_75042613insCCT , CM000677.1:g.75042612_75042613insCCT GRCh37
NC_000015.8:g.72829665_72829666insCCT NCBI36
NG_008431.1:g.32730_32731insCCT
NG_008431.2:g.32730_32731insCCT
NG_061543.1:g.6427_6428insCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.533_534insCCT MANE Select ENSP00000342007.4:p.Glu178delinsAspLeu
ENST00000343932.4:c.533_534insCCT ENSP00000342007.4:p.Glu178delinsAspLeu
NM_000761.4:c.533_534insCCT NP_000752.2:p.Glu178delinsAspLeu
NM_000761.5:c.533_534insCCT MANE Select NP_000752.2:p.Glu178delinsAspLeu