Canonical Allele Identifier: CA2658667731

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38071165-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071166_38071167del , CM000664.2:g.38071166_38071167del	GRCh38
NC_000002.11:g.38298309_38298310del , CM000664.1:g.38298309_38298310del	GRCh37
NC_000002.10:g.38151813_38151814del	NCBI36
NG_008386.2:g.9935_9936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1187_1188del	ENSP00000478839.2:p.Pro396ArgfsTer?
ENST00000610745.5:c.1187_1188del MANE Select	ENSP00000478561.1:p.Pro396ArgfsTer?
ENST00000492443.1:n.565_566del
ENST00000494864.1:c.74_75del	ENSP00000479876.1:p.Pro25ArgfsTer?
ENST00000610745.4:c.1187_1188del	ENSP00000478561.1:p.Pro396ArgfsTer?
ENST00000614273.1:c.1187_1188del	ENSP00000483678.1:p.Pro396ArgfsTer?
NM_000104.3:c.1187_1188del	NP_000095.2:p.Pro396ArgfsTer?
NM_000104.4:c.1187_1188del MANE Select	NP_000095.2:p.Pro396ArgfsTer?