Canonical Allele Identifier: CA2749545441

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075505_38075506insAC , CM000664.2:g.38075505_38075506insAC	GRCh38
NC_000002.11:g.38302648_38302649insAC , CM000664.1:g.38302648_38302649insAC	GRCh37
NC_000002.10:g.38156152_38156153insAC	NCBI36
NG_008386.2:g.5596_5597insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-117_-1-116insGT	ENSP00000478839.2:n.-1-117_-1-116insGT
ENST00000610745.5:c.-1-117_-1-116insGT MANE Select	ENSP00000478561.1:n.-1-117_-1-116insGT
ENST00000490576.1:c.-1-117_-1-116insGT	ENSP00000478839.1:n.-1-117_-1-116insGT
ENST00000494864.1:c.-70-4196_-70-4195insGT	ENSP00000479876.1:n.-70-4196_-70-4195insGT
ENST00000610745.4:c.-1-117_-1-116insGT	ENSP00000478561.1:n.-1-117_-1-116insGT
ENST00000613082.1:n.375+274_375+275insGT
ENST00000614273.1:c.-1-117_-1-116insGT	ENSP00000483678.1:n.-1-117_-1-116insGT
NM_000104.3:c.-1-117_-1-116insGT	NP_000095.2:n.-1-117_-1-116insGT
XM_011533236.1:c.119_120insAC	XP_011531538.1:p.Thr41ArgfsTer?
NM_000104.4:c.-1-117_-1-116insGT MANE Select	NP_000095.2:n.-1-117_-1-116insGT