Canonical Allele Identifier: CA2586969061
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071007_38071009delinsGT , CM000664.2:g.38071007_38071009delinsGT GRCh38
NC_000002.11:g.38298150_38298152delinsGT , CM000664.1:g.38298150_38298152delinsGT GRCh37
NC_000002.10:g.38151654_38151656delinsGT NCBI36
NG_008386.2:g.10093_10095delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1345_1347delinsAC ENSP00000478839.2:p.Asp449ThrfsTer8
ENST00000610745.5:c.1345_1347delinsAC MANE Select ENSP00000478561.1:p.Asp449ThrfsTer8
ENST00000492443.1:n.723_725delinsAC
ENST00000494864.1:c.232_234delinsAC ENSP00000479876.1:p.Asp78ThrfsTer8
ENST00000610745.4:c.1345_1347delinsAC ENSP00000478561.1:p.Asp449ThrfsTer8
ENST00000614273.1:c.1345_1347delinsAC ENSP00000483678.1:p.Asp449ThrfsTer8
NM_000104.3:c.1345_1347delinsAC NP_000095.2:p.Asp449ThrfsTer8
NM_000104.4:c.1345_1347delinsAC MANE Select NP_000095.2:p.Asp449ThrfsTer8