Canonical Allele Identifier: CA2749546717
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075525_38075526insTG , CM000664.2:g.38075525_38075526insTG GRCh38
NC_000002.11:g.38302668_38302669insTG , CM000664.1:g.38302668_38302669insTG GRCh37
NC_000002.10:g.38156172_38156173insTG NCBI36
NG_008386.2:g.5576_5577insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-137_-1-136insCA ENSP00000478839.2:n.-1-137_-1-136insCA
ENST00000610745.5:c.-1-137_-1-136insCA MANE Select ENSP00000478561.1:n.-1-137_-1-136insCA
ENST00000490576.1:c.-1-137_-1-136insCA ENSP00000478839.1:n.-1-137_-1-136insCA
ENST00000494864.1:c.-70-4216_-70-4215insCA ENSP00000479876.1:n.-70-4216_-70-4215insCA
ENST00000610745.4:c.-1-137_-1-136insCA ENSP00000478561.1:n.-1-137_-1-136insCA
ENST00000613082.1:n.375+254_375+255insCA
ENST00000614273.1:c.-1-137_-1-136insCA ENSP00000483678.1:n.-1-137_-1-136insCA
NM_000104.3:c.-1-137_-1-136insCA NP_000095.2:n.-1-137_-1-136insCA
XM_011533236.1:c.139_140insTG XP_011531538.1:p.Arg47LeufsTer?
NM_000104.4:c.-1-137_-1-136insCA MANE Select NP_000095.2:n.-1-137_-1-136insCA