Canonical Allele Identifier: CA2749546782

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075619_38075620insAG , CM000664.2:g.38075619_38075620insAG	GRCh38
NC_000002.11:g.38302762_38302763insAG , CM000664.1:g.38302762_38302763insAG	GRCh37
NC_000002.10:g.38156266_38156267insAG	NCBI36
NG_008386.2:g.5482_5483insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-231_-1-230insCT	ENSP00000478839.2:n.-1-231_-1-230insCT
ENST00000610745.5:c.-2+160_-2+161insCT MANE Select	ENSP00000478561.1:n.-2+160_-2+161insCT
ENST00000490576.1:c.-1-231_-1-230insCT	ENSP00000478839.1:n.-1-231_-1-230insCT
ENST00000494864.1:c.-70-4310_-70-4309insCT	ENSP00000479876.1:n.-70-4310_-70-4309insCT
ENST00000610745.4:c.-2+160_-2+161insCT	ENSP00000478561.1:n.-2+160_-2+161insCT
ENST00000613082.1:n.375+160_375+161insCT
ENST00000614273.1:c.-2+156_-2+157insCT	ENSP00000483678.1:n.-2+156_-2+157insCT
NM_000104.3:c.-2+160_-2+161insCT	NP_000095.2:n.-2+160_-2+161insCT
XM_011533236.1:c.233_234insAG	XP_011531538.1:p.Pro79ValfsTer24
NM_000104.4:c.-2+160_-2+161insCT MANE Select	NP_000095.2:n.-2+160_-2+161insCT