Canonical Allele Identifier: CA2658667897

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38075536-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075536_38075537insA , CM000664.2:g.38075536_38075537insA	GRCh38
NC_000002.11:g.38302679_38302680insA , CM000664.1:g.38302679_38302680insA	GRCh37
NC_000002.10:g.38156183_38156184insA	NCBI36
NG_008386.2:g.5565_5566insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-148_-1-147insT	ENSP00000478839.2:n.-1-148_-1-147insT
ENST00000610745.5:c.-1-148_-1-147insT MANE Select	ENSP00000478561.1:n.-1-148_-1-147insT
ENST00000490576.1:c.-1-148_-1-147insT	ENSP00000478839.1:n.-1-148_-1-147insT
ENST00000494864.1:c.-70-4227_-70-4226insT	ENSP00000479876.1:n.-70-4227_-70-4226insT
ENST00000610745.4:c.-1-148_-1-147insT	ENSP00000478561.1:n.-1-148_-1-147insT
ENST00000613082.1:n.375+243_375+244insT
ENST00000614273.1:c.-1-148_-1-147insT	ENSP00000483678.1:n.-1-148_-1-147insT
NM_000104.3:c.-1-148_-1-147insT	NP_000095.2:n.-1-148_-1-147insT
XM_011533236.1:c.150_151insA	XP_011531538.1:p.Phe51IlefsTer21
NM_000104.4:c.-1-148_-1-147insT MANE Select	NP_000095.2:n.-1-148_-1-147insT