Canonical Allele Identifier: CA658684288
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 492852
ClinVar RCV Id: RCV000581750
dbSNP Id: rs1555973063
MyVariant Identifiers: chrX:g.30326727del (hg19) chrX:g.30308610del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308610del , CM000685.2:g.30308610del GRCh38
NC_000023.10:g.30326727del , CM000685.1:g.30326727del GRCh37
NC_000023.9:g.30236648del NCBI36
NG_009814.1:g.5769del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.754del MANE Select ENSP00000368253.4:p.Gln252ArgfsTer12
ENST00000378970.4:c.754del ENSP00000368253.4:p.Gln252ArgfsTer12
NM_000475.4:c.754del NP_000466.2:p.Gln252ArgfsTer12
NM_000475.5:c.754del MANE Select NP_000466.2:p.Gln252ArgfsTer12
Search 100 bp 5'
Search 100 bp 3'