Canonical Allele Identifier: CA1245628359
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075397_38075399delinsCAG , CM000664.2:g.38075397_38075399delinsCAG GRCh38
NC_000002.11:g.38302540_38302542delinsCAG , CM000664.1:g.38302540_38302542delinsCAG GRCh37
NC_000002.10:g.38156044_38156046delinsCAG NCBI36
NG_008386.2:g.5703_5705delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-10_-1-8delinsCTG ENSP00000478839.2:n.-1-10_-1-8delinsCTG
ENST00000610745.5:c.-1-10_-1-8delinsCTG MANE Select ENSP00000478561.1:n.-1-10_-1-8delinsCTG
ENST00000490576.1:c.-1-10_-1-8delinsCTG ENSP00000478839.1:n.-1-10_-1-8delinsCTG
ENST00000494864.1:c.-70-4089_-70-4087delinsCTG ENSP00000479876.1:n.-70-4089_-70-4087delinsCTG
ENST00000610745.4:c.-1-10_-1-8delinsCTG ENSP00000478561.1:n.-1-10_-1-8delinsCTG
ENST00000613082.1:n.375+381_375+383delinsCTG
ENST00000614273.1:c.-1-10_-1-8delinsCTG ENSP00000483678.1:n.-1-10_-1-8delinsCTG
NM_000104.3:c.-1-10_-1-8delinsCTG NP_000095.2:n.-1-10_-1-8delinsCTG
XM_011533236.1:c.11_13delinsCAG XP_011531538.1:p.Thr4=
NM_000104.4:c.-1-10_-1-8delinsCTG MANE Select NP_000095.2:n.-1-10_-1-8delinsCTG