Canonical Allele Identifier: CA1245628413
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075468_38075470delinsCTG , CM000664.2:g.38075468_38075470delinsCTG GRCh38
NC_000002.11:g.38302611_38302613delinsCTG , CM000664.1:g.38302611_38302613delinsCTG GRCh37
NC_000002.10:g.38156115_38156117delinsCTG NCBI36
NG_008386.2:g.5632_5634delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-81_-1-79delinsCAG ENSP00000478839.2:n.-1-81_-1-79delinsCAG
ENST00000610745.5:c.-1-81_-1-79delinsCAG MANE Select ENSP00000478561.1:n.-1-81_-1-79delinsCAG
ENST00000490576.1:c.-1-81_-1-79delinsCAG ENSP00000478839.1:n.-1-81_-1-79delinsCAG
ENST00000494864.1:c.-70-4160_-70-4158delinsCAG ENSP00000479876.1:n.-70-4160_-70-4158delinsCAG
ENST00000610745.4:c.-1-81_-1-79delinsCAG ENSP00000478561.1:n.-1-81_-1-79delinsCAG
ENST00000613082.1:n.375+310_375+312delinsCAG
ENST00000614273.1:c.-1-81_-1-79delinsCAG ENSP00000483678.1:n.-1-81_-1-79delinsCAG
NM_000104.3:c.-1-81_-1-79delinsCAG NP_000095.2:n.-1-81_-1-79delinsCAG
XM_011533236.1:c.82_84delinsCTG XP_011531538.1:p.Leu28=
NM_000104.4:c.-1-81_-1-79delinsCAG MANE Select NP_000095.2:n.-1-81_-1-79delinsCAG
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