Canonical Allele Identifier: CA2580100532
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10960
ClinVar RCV Id: RCV000011707
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304615_30304616delinsC , CM000685.2:g.30304615_30304616delinsC GRCh38
NC_000023.10:g.30322732_30322733delinsC , CM000685.1:g.30322732_30322733delinsC GRCh37
NC_000023.9:g.30232653_30232654delinsC NCBI36
NG_009814.1:g.9763_9764delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1376_1377delinsG MANE Select ENSP00000368253.4:p.Asp459GlyfsTer3
ENST00000378970.4:c.1376_1377delinsG ENSP00000368253.4:p.Asp459GlyfsTer3
NM_000475.4:c.1376_1377delinsG NP_000466.2:p.Asp459GlyfsTer3
NM_000475.5:c.1376_1377delinsG MANE Select NP_000466.2:p.Asp459GlyfsTer3
Search 100 bp 5'
Search 100 bp 3'