Canonical Allele Identifier: CA2749546757
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075578_38075579insACA , CM000664.2:g.38075578_38075579insACA GRCh38
NC_000002.11:g.38302721_38302722insACA , CM000664.1:g.38302721_38302722insACA GRCh37
NC_000002.10:g.38156225_38156226insACA NCBI36
NG_008386.2:g.5523_5524insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-190_-1-189insTGT ENSP00000478839.2:n.-1-190_-1-189insTGT
ENST00000610745.5:c.-1-190_-1-189insTGT MANE Select ENSP00000478561.1:n.-1-190_-1-189insTGT
ENST00000490576.1:c.-1-190_-1-189insTGT ENSP00000478839.1:n.-1-190_-1-189insTGT
ENST00000494864.1:c.-70-4269_-70-4268insTGT ENSP00000479876.1:n.-70-4269_-70-4268insTGT
ENST00000610745.4:c.-1-190_-1-189insTGT ENSP00000478561.1:n.-1-190_-1-189insTGT
ENST00000613082.1:n.375+201_375+202insTGT
ENST00000614273.1:c.-1-190_-1-189insTGT ENSP00000483678.1:n.-1-190_-1-189insTGT
NM_000104.3:c.-1-190_-1-189insTGT NP_000095.2:n.-1-190_-1-189insTGT
XM_011533236.1:c.192_193insACA XP_011531538.1:p.Gly64_Val65insThr
NM_000104.4:c.-1-190_-1-189insTGT MANE Select NP_000095.2:n.-1-190_-1-189insTGT