Canonical Allele Identifier: CA1139667337
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 981459
ClinVar RCV Id: RCV001260902
dbSNP Id: rs1926565039

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308358dup , CM000685.2:g.30308358dup GRCh38
NC_000023.10:g.30326475dup , CM000685.1:g.30326475dup GRCh37
NC_000023.9:g.30236396dup NCBI36
NG_009814.1:g.6021dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1006dup MANE Select ENSP00000368253.4:p.Val336GlyfsTer?
ENST00000378963.1:c.121dup ENSP00000368246.1:p.Val41GlyfsTer?
ENST00000378970.4:c.1006dup ENSP00000368253.4:p.Val336GlyfsTer?
NM_000475.4:c.1006dup NP_000466.2:p.Val336GlyfsTer?
NM_000475.5:c.1006dup MANE Select NP_000466.2:p.Val336GlyfsTer?