Canonical Allele Identifier: CA2749546775

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075612_38075613insA , CM000664.2:g.38075612_38075613insA	GRCh38
NC_000002.11:g.38302755_38302756insA , CM000664.1:g.38302755_38302756insA	GRCh37
NC_000002.10:g.38156259_38156260insA	NCBI36
NG_008386.2:g.5489_5490insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-224_-1-223insT	ENSP00000478839.2:n.-1-224_-1-223insT
ENST00000610745.5:c.-2+167_-2+168insT MANE Select	ENSP00000478561.1:n.-2+167_-2+168insT
ENST00000490576.1:c.-1-224_-1-223insT	ENSP00000478839.1:n.-1-224_-1-223insT
ENST00000494864.1:c.-70-4303_-70-4302insT	ENSP00000479876.1:n.-70-4303_-70-4302insT
ENST00000610745.4:c.-2+167_-2+168insT	ENSP00000478561.1:n.-2+167_-2+168insT
ENST00000613082.1:n.375+167_375+168insT
ENST00000614273.1:c.-2+163_-2+164insT	ENSP00000483678.1:n.-2+163_-2+164insT
NM_000104.3:c.-2+167_-2+168insT	NP_000095.2:n.-2+167_-2+168insT
XM_011533236.1:c.226_227insA	XP_011531538.1:p.Pro76HisfsTer9
NM_000104.4:c.-2+167_-2+168insT MANE Select	NP_000095.2:n.-2+167_-2+168insT