Canonical Allele Identifier: CA2820256701
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308718del , CM000685.2:g.30308718del GRCh38
NC_000023.10:g.30326835del , CM000685.1:g.30326835del GRCh37
NC_000023.9:g.30236756del NCBI36
NG_009814.1:g.5661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.646del MANE Select ENSP00000368253.4:p.Val216CysfsTer?
ENST00000378970.4:c.646del ENSP00000368253.4:p.Val216CysfsTer?
NM_000475.4:c.646del NP_000466.2:p.Val216CysfsTer?
NM_000475.5:c.646del MANE Select NP_000466.2:p.Val216CysfsTer?