Canonical Allele Identifier: CA2749545454

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075514_38075515del , CM000664.2:g.38075514_38075515del	GRCh38
NC_000002.11:g.38302657_38302658del , CM000664.1:g.38302657_38302658del	GRCh37
NC_000002.10:g.38156161_38156162del	NCBI36
NG_008386.2:g.5587_5588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-126_-1-125del	ENSP00000478839.2:n.-1-126_-1-125del
ENST00000610745.5:c.-1-126_-1-125del MANE Select	ENSP00000478561.1:n.-1-126_-1-125del
ENST00000490576.1:c.-1-126_-1-125del	ENSP00000478839.1:n.-1-126_-1-125del
ENST00000494864.1:c.-70-4205_-70-4204del	ENSP00000479876.1:n.-70-4205_-70-4204del
ENST00000610745.4:c.-1-126_-1-125del	ENSP00000478561.1:n.-1-126_-1-125del
ENST00000613082.1:n.375+265_375+266del
ENST00000614273.1:c.-1-126_-1-125del	ENSP00000483678.1:n.-1-126_-1-125del
NM_000104.3:c.-1-126_-1-125del	NP_000095.2:n.-1-126_-1-125del
XM_011533236.1:c.128_129del	XP_011531538.1:p.Trp43Ter
NM_000104.4:c.-1-126_-1-125del MANE Select	NP_000095.2:n.-1-126_-1-125del