Canonical Allele Identifier: CA2749546764

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075591_38075592insA , CM000664.2:g.38075591_38075592insA	GRCh38
NC_000002.11:g.38302734_38302735insA , CM000664.1:g.38302734_38302735insA	GRCh37
NC_000002.10:g.38156238_38156239insA	NCBI36
NG_008386.2:g.5510_5511insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-203_-1-202insT	ENSP00000478839.2:n.-1-203_-1-202insT
ENST00000610745.5:c.-2+188_-2+189insT MANE Select	ENSP00000478561.1:n.-2+188_-2+189insT
ENST00000490576.1:c.-1-203_-1-202insT	ENSP00000478839.1:n.-1-203_-1-202insT
ENST00000494864.1:c.-70-4282_-70-4281insT	ENSP00000479876.1:n.-70-4282_-70-4281insT
ENST00000610745.4:c.-2+188_-2+189insT	ENSP00000478561.1:n.-2+188_-2+189insT
ENST00000613082.1:n.375+188_375+189insT
ENST00000614273.1:c.-2+184_-2+185insT	ENSP00000483678.1:n.-2+184_-2+185insT
NM_000104.3:c.-2+188_-2+189insT	NP_000095.2:n.-2+188_-2+189insT
XM_011533236.1:c.205_206insA	XP_011531538.1:p.Arg69GlnfsTer3
NM_000104.4:c.-2+188_-2+189insT MANE Select	NP_000095.2:n.-2+188_-2+189insT