Canonical Allele Identifier: CA645603422
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2630336
ClinVar RCV Id: RCV004527869
dbSNP Id: rs1926575027

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308666del , CM000685.2:g.30308666del GRCh38
NC_000023.10:g.30326783del , CM000685.1:g.30326783del GRCh37
NC_000023.9:g.30236704del NCBI36
NG_009814.1:g.5717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.702del MANE Select ENSP00000368253.4:p.Trp235GlyfsTer29
ENST00000378970.4:c.702del ENSP00000368253.4:p.Trp235GlyfsTer29
NM_000475.4:c.702del NP_000466.2:p.Trp235GlyfsTer29
NM_000475.5:c.702del MANE Select NP_000466.2:p.Trp235GlyfsTer29