Canonical Allele Identifier: CA2749546777

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075613_38075614insA , CM000664.2:g.38075613_38075614insA	GRCh38
NC_000002.11:g.38302756_38302757insA , CM000664.1:g.38302756_38302757insA	GRCh37
NC_000002.10:g.38156260_38156261insA	NCBI36
NG_008386.2:g.5488_5489insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-225_-1-224insT	ENSP00000478839.2:n.-1-225_-1-224insT
ENST00000610745.5:c.-2+166_-2+167insT MANE Select	ENSP00000478561.1:n.-2+166_-2+167insT
ENST00000490576.1:c.-1-225_-1-224insT	ENSP00000478839.1:n.-1-225_-1-224insT
ENST00000494864.1:c.-70-4304_-70-4303insT	ENSP00000479876.1:n.-70-4304_-70-4303insT
ENST00000610745.4:c.-2+166_-2+167insT	ENSP00000478561.1:n.-2+166_-2+167insT
ENST00000613082.1:n.375+166_375+167insT
ENST00000614273.1:c.-2+162_-2+163insT	ENSP00000483678.1:n.-2+162_-2+163insT
NM_000104.3:c.-2+166_-2+167insT	NP_000095.2:n.-2+166_-2+167insT
XM_011533236.1:c.227_228insA	XP_011531538.1:p.Ser77PhefsTer8
NM_000104.4:c.-2+166_-2+167insT MANE Select	NP_000095.2:n.-2+166_-2+167insT