Canonical Allele Identifier: CA2749546724

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075537_38075538insAG , CM000664.2:g.38075537_38075538insAG	GRCh38
NC_000002.11:g.38302680_38302681insAG , CM000664.1:g.38302680_38302681insAG	GRCh37
NC_000002.10:g.38156184_38156185insAG	NCBI36
NG_008386.2:g.5564_5565insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-149_-1-148insCT	ENSP00000478839.2:n.-1-149_-1-148insCT
ENST00000610745.5:c.-1-149_-1-148insCT MANE Select	ENSP00000478561.1:n.-1-149_-1-148insCT
ENST00000490576.1:c.-1-149_-1-148insCT	ENSP00000478839.1:n.-1-149_-1-148insCT
ENST00000494864.1:c.-70-4228_-70-4227insCT	ENSP00000479876.1:n.-70-4228_-70-4227insCT
ENST00000610745.4:c.-1-149_-1-148insCT	ENSP00000478561.1:n.-1-149_-1-148insCT
ENST00000613082.1:n.375+242_375+243insCT
ENST00000614273.1:c.-1-149_-1-148insCT	ENSP00000483678.1:n.-1-149_-1-148insCT
NM_000104.3:c.-1-149_-1-148insCT	NP_000095.2:n.-1-149_-1-148insCT
XM_011533236.1:c.151_152insAG	XP_011531538.1:p.Phe51Ter
NM_000104.4:c.-1-149_-1-148insCT MANE Select	NP_000095.2:n.-1-149_-1-148insCT