Canonical Allele Identifier: CA2586969154

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075230del , CM000664.2:g.38075230del	GRCh38
NC_000002.11:g.38302373del , CM000664.1:g.38302373del	GRCh37
NC_000002.10:g.38155877del	NCBI36
NG_008386.2:g.5874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.161del	ENSP00000478839.2:p.Pro54ArgfsTer6
ENST00000610745.5:c.161del MANE Select	ENSP00000478561.1:p.Pro54ArgfsTer6
ENST00000490576.1:c.161del	ENSP00000478839.1:p.Pro54ArgfsTer6
ENST00000494864.1:c.-70-3918del	ENSP00000479876.1:n.-70-3918del
ENST00000610745.4:c.161del	ENSP00000478561.1:p.Pro54ArgfsTer6
ENST00000613082.1:n.375+552del
ENST00000614273.1:c.161del	ENSP00000483678.1:p.Pro54ArgfsTer6
NM_000104.3:c.161del	NP_000095.2:p.Pro54ArgfsTer6
NM_000104.4:c.161del MANE Select	NP_000095.2:p.Pro54ArgfsTer6