Canonical Allele Identifier: CA2749546723
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075536_38075537insAGA , CM000664.2:g.38075536_38075537insAGA GRCh38
NC_000002.11:g.38302679_38302680insAGA , CM000664.1:g.38302679_38302680insAGA GRCh37
NC_000002.10:g.38156183_38156184insAGA NCBI36
NG_008386.2:g.5565_5566insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-148_-1-147insTCT ENSP00000478839.2:n.-1-148_-1-147insTCT
ENST00000610745.5:c.-1-148_-1-147insTCT MANE Select ENSP00000478561.1:n.-1-148_-1-147insTCT
ENST00000490576.1:c.-1-148_-1-147insTCT ENSP00000478839.1:n.-1-148_-1-147insTCT
ENST00000494864.1:c.-70-4227_-70-4226insTCT ENSP00000479876.1:n.-70-4227_-70-4226insTCT
ENST00000610745.4:c.-1-148_-1-147insTCT ENSP00000478561.1:n.-1-148_-1-147insTCT
ENST00000613082.1:n.375+243_375+244insTCT
ENST00000614273.1:c.-1-148_-1-147insTCT ENSP00000483678.1:n.-1-148_-1-147insTCT
NM_000104.3:c.-1-148_-1-147insTCT NP_000095.2:n.-1-148_-1-147insTCT
XM_011533236.1:c.150_151insAGA XP_011531538.1:p.Pro50_Phe51insArg
NM_000104.4:c.-1-148_-1-147insTCT MANE Select NP_000095.2:n.-1-148_-1-147insTCT