Canonical Allele Identifier: CA1139532854
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1806119
ClinVar RCV Id: RCV002470403
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304643del , CM000685.2:g.30304643del GRCh38
NC_000023.10:g.30322760del , CM000685.1:g.30322760del GRCh37
NC_000023.9:g.30232681del NCBI36
NG_009814.1:g.9737del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1350del MANE Select ENSP00000368253.4:p.Arg450SerfsTer12
ENST00000378970.4:c.1350del ENSP00000368253.4:p.Arg450SerfsTer12
NM_000475.4:c.1350del NP_000466.2:p.Arg450SerfsTer12
NM_000475.5:c.1350del MANE Select NP_000466.2:p.Arg450SerfsTer12
Search 100 bp 5'
Search 100 bp 3'