Canonical Allele Identifier: CA2749546716

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075525_38075527del , CM000664.2:g.38075525_38075527del	GRCh38
NC_000002.11:g.38302668_38302670del , CM000664.1:g.38302668_38302670del	GRCh37
NC_000002.10:g.38156172_38156174del	NCBI36
NG_008386.2:g.5575_5577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-138_-1-136del	ENSP00000478839.2:n.-1-138_-1-136del
ENST00000610745.5:c.-1-138_-1-136del MANE Select	ENSP00000478561.1:n.-1-138_-1-136del
ENST00000490576.1:c.-1-138_-1-136del	ENSP00000478839.1:n.-1-138_-1-136del
ENST00000494864.1:c.-70-4217_-70-4215del	ENSP00000479876.1:n.-70-4217_-70-4215del
ENST00000610745.4:c.-1-138_-1-136del	ENSP00000478561.1:n.-1-138_-1-136del
ENST00000613082.1:n.375+253_375+255del
ENST00000614273.1:c.-1-138_-1-136del	ENSP00000483678.1:n.-1-138_-1-136del
NM_000104.3:c.-1-138_-1-136del	NP_000095.2:n.-1-138_-1-136del
XM_011533236.1:c.139_141del	XP_011531538.1:p.Arg47del
NM_000104.4:c.-1-138_-1-136del MANE Select	NP_000095.2:n.-1-138_-1-136del