Canonical Allele Identifier: CA2749546761
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075585_38075586insAGT , CM000664.2:g.38075585_38075586insAGT GRCh38
NC_000002.11:g.38302728_38302729insAGT , CM000664.1:g.38302728_38302729insAGT GRCh37
NC_000002.10:g.38156232_38156233insAGT NCBI36
NG_008386.2:g.5516_5517insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-197_-1-196insACT ENSP00000478839.2:n.-1-197_-1-196insACT
ENST00000610745.5:c.-2+194_-1-196insACT MANE Select ENSP00000478561.1:n.-2+194_-1-196insACT
ENST00000490576.1:c.-1-197_-1-196insACT ENSP00000478839.1:n.-1-197_-1-196insACT
ENST00000494864.1:c.-70-4276_-70-4275insACT ENSP00000479876.1:n.-70-4276_-70-4275insACT
ENST00000610745.4:c.-2+194_-1-196insACT ENSP00000478561.1:n.-2+194_-1-196insACT
ENST00000613082.1:n.375+194_375+195insACT
ENST00000614273.1:c.-2+190_-2+191insACT ENSP00000483678.1:n.-2+190_-2+191insACT
NM_000104.3:c.-2+194_-1-196insACT NP_000095.2:n.-2+194_-1-196insACT
XM_011533236.1:c.199_200insAGT XP_011531538.1:p.Pro67delinsGlnSer
NM_000104.4:c.-2+194_-1-196insACT MANE Select NP_000095.2:n.-2+194_-1-196insACT