Canonical Allele Identifier: CA2749545449
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075512_38075513insAC , CM000664.2:g.38075512_38075513insAC GRCh38
NC_000002.11:g.38302655_38302656insAC , CM000664.1:g.38302655_38302656insAC GRCh37
NC_000002.10:g.38156159_38156160insAC NCBI36
NG_008386.2:g.5590_5591insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-123_-1-122insTG ENSP00000478839.2:n.-1-123_-1-122insTG
ENST00000610745.5:c.-1-123_-1-122insTG MANE Select ENSP00000478561.1:n.-1-123_-1-122insTG
ENST00000490576.1:c.-1-123_-1-122insTG ENSP00000478839.1:n.-1-123_-1-122insTG
ENST00000494864.1:c.-70-4202_-70-4201insTG ENSP00000479876.1:n.-70-4202_-70-4201insTG
ENST00000610745.4:c.-1-123_-1-122insTG ENSP00000478561.1:n.-1-123_-1-122insTG
ENST00000613082.1:n.375+268_375+269insTG
ENST00000614273.1:c.-1-123_-1-122insTG ENSP00000483678.1:n.-1-123_-1-122insTG
NM_000104.3:c.-1-123_-1-122insTG NP_000095.2:n.-1-123_-1-122insTG
XM_011533236.1:c.126_127insAC XP_011531538.1:p.Trp43ThrfsTer?
NM_000104.4:c.-1-123_-1-122insTG MANE Select NP_000095.2:n.-1-123_-1-122insTG