Canonical Allele Identifier: CA2697548007
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2743982
ClinVar RCV Id: RCV003593562
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075247_38075248delinsCC , CM000664.2:g.38075247_38075248delinsCC GRCh38
NC_000002.11:g.38302390_38302391delinsCC , CM000664.1:g.38302390_38302391delinsCC GRCh37
NC_000002.10:g.38155894_38155895delinsCC NCBI36
NG_008386.2:g.5854_5855delinsGG

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.141_142delinsGG ENSP00000478839.2:p.Arg48Gly
ENST00000610745.5:c.141_142delinsGG MANE Select ENSP00000478561.1:p.Arg48Gly
ENST00000490576.1:c.141_142delinsGG ENSP00000478839.1:p.Arg48Gly
ENST00000494864.1:c.-70-3938_-70-3937delinsGG ENSP00000479876.1:n.-70-3938_-70-3937deli...
ENST00000610745.4:c.141_142delinsGG ENSP00000478561.1:p.Arg48Gly
ENST00000613082.1:n.375+532_375+533delinsGG
ENST00000614273.1:c.141_142delinsGG ENSP00000483678.1:p.Arg48Gly
NM_000104.3:c.141_142delinsGG NP_000095.2:p.Arg48Gly
NM_000104.4:c.141_142delinsGG MANE Select NP_000095.2:p.Arg48Gly
Search 100 bp 5'
Search 100 bp 3'