Canonical Allele Identifier: CA2749546768

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075594_38075595insACA , CM000664.2:g.38075594_38075595insACA	GRCh38
NC_000002.11:g.38302737_38302738insACA , CM000664.1:g.38302737_38302738insACA	GRCh37
NC_000002.10:g.38156241_38156242insACA	NCBI36
NG_008386.2:g.5507_5508insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-206_-1-205insTGT	ENSP00000478839.2:n.-1-206_-1-205insTGT
ENST00000610745.5:c.-2+185_-2+186insTGT MANE Select	ENSP00000478561.1:n.-2+185_-2+186insTGT
ENST00000490576.1:c.-1-206_-1-205insTGT	ENSP00000478839.1:n.-1-206_-1-205insTGT
ENST00000494864.1:c.-70-4285_-70-4284insTGT	ENSP00000479876.1:n.-70-4285_-70-4284insTGT
ENST00000610745.4:c.-2+185_-2+186insTGT	ENSP00000478561.1:n.-2+185_-2+186insTGT
ENST00000613082.1:n.375+185_375+186insTGT
ENST00000614273.1:c.-2+181_-2+182insTGT	ENSP00000483678.1:n.-2+181_-2+182insTGT
NM_000104.3:c.-2+185_-2+186insTGT	NP_000095.2:n.-2+185_-2+186insTGT
XM_011533236.1:c.208_209insACA	XP_011531538.1:p.Cys70delinsTyrSer
NM_000104.4:c.-2+185_-2+186insTGT MANE Select	NP_000095.2:n.-2+185_-2+186insTGT