Canonical Allele Identifier: CA658684285
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 492859
ClinVar RCV Id: RCV000584295
dbSNP Id: rs1555972640
MyVariant Identifiers: chrX:g.30322744_30322745del (hg19) chrX:g.30304627_30304628del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304629_30304630del , CM000685.2:g.30304629_30304630del GRCh38
NC_000023.10:g.30322746_30322747del , CM000685.1:g.30322746_30322747del GRCh37
NC_000023.9:g.30232667_30232668del NCBI36
NG_009814.1:g.9751_9752del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1364_1365del MANE Select ENSP00000368253.4:p.Thr455SerfsTer5
ENST00000378970.4:c.1364_1365del ENSP00000368253.4:p.Thr455SerfsTer5
NM_000475.4:c.1364_1365del NP_000466.2:p.Thr455SerfsTer5
NM_000475.5:c.1364_1365del MANE Select NP_000466.2:p.Thr455SerfsTer5
Search 100 bp 5'
Search 100 bp 3'