Canonical Allele Identifier: CA1245626066
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071008_38071009delinsTC , CM000664.2:g.38071008_38071009delinsTC GRCh38
NC_000002.11:g.38298151_38298152delinsTC , CM000664.1:g.38298151_38298152delinsTC GRCh37
NC_000002.10:g.38151655_38151656delinsTC NCBI36
NG_008386.2:g.10093_10094delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1345_1346delinsGA ENSP00000478839.2:p.Asp449=
ENST00000610745.5:c.1345_1346delinsGA MANE Select ENSP00000478561.1:p.Asp449=
ENST00000492443.1:n.723_724delinsGA
ENST00000494864.1:c.232_233delinsGA ENSP00000479876.1:p.Asp78=
ENST00000610745.4:c.1345_1346delinsGA ENSP00000478561.1:p.Asp449=
ENST00000614273.1:c.1345_1346delinsGA ENSP00000483678.1:p.Asp449=
NM_000104.3:c.1345_1346delinsGA NP_000095.2:p.Asp449=
NM_000104.4:c.1345_1346delinsGA MANE Select NP_000095.2:p.Asp449=