Canonical Allele Identifier: CA2749545414

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075460_38075462del , CM000664.2:g.38075460_38075462del	GRCh38
NC_000002.11:g.38302603_38302605del , CM000664.1:g.38302603_38302605del	GRCh37
NC_000002.10:g.38156107_38156109del	NCBI36
NG_008386.2:g.5641_5643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-72_-1-70del	ENSP00000478839.2:n.-1-72_-1-70del
ENST00000610745.5:c.-1-72_-1-70del MANE Select	ENSP00000478561.1:n.-1-72_-1-70del
ENST00000490576.1:c.-1-72_-1-70del	ENSP00000478839.1:n.-1-72_-1-70del
ENST00000494864.1:c.-70-4151_-70-4149del	ENSP00000479876.1:n.-70-4151_-70-4149del
ENST00000610745.4:c.-1-72_-1-70del	ENSP00000478561.1:n.-1-72_-1-70del
ENST00000613082.1:n.375+319_375+321del
ENST00000614273.1:c.-1-72_-1-70del	ENSP00000483678.1:n.-1-72_-1-70del
NM_000104.3:c.-1-72_-1-70del	NP_000095.2:n.-1-72_-1-70del
XM_011533236.1:c.74_76del	XP_011531538.1:p.Pro25del
NM_000104.4:c.-1-72_-1-70del MANE Select	NP_000095.2:n.-1-72_-1-70del