Canonical Allele Identifier: CA2749545451
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075511_38075512insAGA , CM000664.2:g.38075511_38075512insAGA GRCh38
NC_000002.11:g.38302654_38302655insAGA , CM000664.1:g.38302654_38302655insAGA GRCh37
NC_000002.10:g.38156158_38156159insAGA NCBI36
NG_008386.2:g.5590_5591insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-123_-1-122insTCT ENSP00000478839.2:n.-1-123_-1-122insTCT
ENST00000610745.5:c.-1-123_-1-122insTCT MANE Select ENSP00000478561.1:n.-1-123_-1-122insTCT
ENST00000490576.1:c.-1-123_-1-122insTCT ENSP00000478839.1:n.-1-123_-1-122insTCT
ENST00000494864.1:c.-70-4202_-70-4201insTCT ENSP00000479876.1:n.-70-4202_-70-4201insTCT
ENST00000610745.4:c.-1-123_-1-122insTCT ENSP00000478561.1:n.-1-123_-1-122insTCT
ENST00000613082.1:n.375+268_375+269insTCT
ENST00000614273.1:c.-1-123_-1-122insTCT ENSP00000483678.1:n.-1-123_-1-122insTCT
NM_000104.3:c.-1-123_-1-122insTCT NP_000095.2:n.-1-123_-1-122insTCT
XM_011533236.1:c.125_126insAGA XP_011531538.1:p.Leu42_Trp43insAsp
NM_000104.4:c.-1-123_-1-122insTCT MANE Select NP_000095.2:n.-1-123_-1-122insTCT