Canonical Allele Identifier: CA2749546726

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075539_38075540insAG , CM000664.2:g.38075539_38075540insAG	GRCh38
NC_000002.11:g.38302682_38302683insAG , CM000664.1:g.38302682_38302683insAG	GRCh37
NC_000002.10:g.38156186_38156187insAG	NCBI36
NG_008386.2:g.5562_5563insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-151_-1-150insCT	ENSP00000478839.2:n.-1-151_-1-150insCT
ENST00000610745.5:c.-1-151_-1-150insCT MANE Select	ENSP00000478561.1:n.-1-151_-1-150insCT
ENST00000490576.1:c.-1-151_-1-150insCT	ENSP00000478839.1:n.-1-151_-1-150insCT
ENST00000494864.1:c.-70-4230_-70-4229insCT	ENSP00000479876.1:n.-70-4230_-70-4229insCT
ENST00000610745.4:c.-1-151_-1-150insCT	ENSP00000478561.1:n.-1-151_-1-150insCT
ENST00000613082.1:n.375+240_375+241insCT
ENST00000614273.1:c.-1-151_-1-150insCT	ENSP00000483678.1:n.-1-151_-1-150insCT
NM_000104.3:c.-1-151_-1-150insCT	NP_000095.2:n.-1-151_-1-150insCT
XM_011533236.1:c.153_154insAG	XP_011531538.1:p.Pro52SerfsTer?
NM_000104.4:c.-1-151_-1-150insCT MANE Select	NP_000095.2:n.-1-151_-1-150insCT