Canonical Allele Identifier: CA2749545452

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075520_38075568del , CM000664.2:g.38075520_38075568del	GRCh38
NC_000002.11:g.38302663_38302711del , CM000664.1:g.38302663_38302711del	GRCh37
NC_000002.10:g.38156167_38156215del	NCBI36
NG_008386.2:g.5541_5589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-172_-1-124del	ENSP00000478839.2:n.-1-172_-1-124del
ENST00000610745.5:c.-1-172_-1-124del MANE Select	ENSP00000478561.1:n.-1-172_-1-124del
ENST00000490576.1:c.-1-172_-1-124del	ENSP00000478839.1:n.-1-172_-1-124del
ENST00000494864.1:c.-70-4251_-70-4203del	ENSP00000479876.1:n.-70-4251_-70-4203del
ENST00000610745.4:c.-1-172_-1-124del	ENSP00000478561.1:n.-1-172_-1-124del
ENST00000613082.1:n.375+219_375+267del
ENST00000614273.1:c.-1-172_-1-124del	ENSP00000483678.1:n.-1-172_-1-124del
NM_000104.3:c.-1-172_-1-124del	NP_000095.2:n.-1-172_-1-124del
XM_011533236.1:c.134_182del	XP_011531538.1:p.Asn45ArgfsTer?
NM_000104.4:c.-1-172_-1-124del MANE Select	NP_000095.2:n.-1-172_-1-124del