Canonical Allele Identifier: CA1245628158
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075082_38075092delinsTGGCGCGCTCG , CM000664.2:g.38075082_38075092delinsTGGCGCGCTCG GRCh38
NC_000002.11:g.38302225_38302235delinsTGGCGCGCTCG , CM000664.1:g.38302225_38302235delinsTGGCGCGCTCG GRCh37
NC_000002.10:g.38155729_38155739delinsTGGCGCGCTCG NCBI36
NG_008386.2:g.6010_6020delinsCGAGCGCGCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.297_307delinsCGAGCGCGCCA ENSP00000478839.2:p.Gly99=
ENST00000610745.5:c.297_307delinsCGAGCGCGCCA MANE Select ENSP00000478561.1:p.Gly99=
ENST00000490576.1:c.297_307delinsCGAGCGCGCCA ENSP00000478839.1:p.Gly99=
ENST00000494864.1:c.-70-3782_-70-3772delinsCGAGCGCGCCA ENSP00000479876.1:n.-70-3782_-70-3772delinsCGAGCGCGCCA
ENST00000610745.4:c.297_307delinsCGAGCGCGCCA ENSP00000478561.1:p.Gly99=
ENST00000613082.1:n.376-684_376-674delinsCGAGCGCGCCA
ENST00000614273.1:c.297_307delinsCGAGCGCGCCA ENSP00000483678.1:p.Gly99=
NM_000104.3:c.297_307delinsCGAGCGCGCCA NP_000095.2:p.Gly99=
NM_000104.4:c.297_307delinsCGAGCGCGCCA MANE Select NP_000095.2:p.Gly99=
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