Canonical Allele Identifier: CA2749546713

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075517_38075518insTC , CM000664.2:g.38075517_38075518insTC	GRCh38
NC_000002.11:g.38302660_38302661insTC , CM000664.1:g.38302660_38302661insTC	GRCh37
NC_000002.10:g.38156164_38156165insTC	NCBI36
NG_008386.2:g.5584_5585insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-129_-1-128insGA	ENSP00000478839.2:n.-1-129_-1-128insGA
ENST00000610745.5:c.-1-129_-1-128insGA MANE Select	ENSP00000478561.1:n.-1-129_-1-128insGA
ENST00000490576.1:c.-1-129_-1-128insGA	ENSP00000478839.1:n.-1-129_-1-128insGA
ENST00000494864.1:c.-70-4208_-70-4207insGA	ENSP00000479876.1:n.-70-4208_-70-4207insGA
ENST00000610745.4:c.-1-129_-1-128insGA	ENSP00000478561.1:n.-1-129_-1-128insGA
ENST00000613082.1:n.375+262_375+263insGA
ENST00000614273.1:c.-1-129_-1-128insGA	ENSP00000483678.1:n.-1-129_-1-128insGA
NM_000104.3:c.-1-129_-1-128insGA	NP_000095.2:n.-1-129_-1-128insGA
XM_011533236.1:c.131_132insTC	XP_011531538.1:p.Arg44SerfsTer?
NM_000104.4:c.-1-129_-1-128insGA MANE Select	NP_000095.2:n.-1-129_-1-128insGA