Canonical Allele Identifier: CA2739290471
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304658del , CM000685.2:g.30304658del GRCh38
NC_000023.10:g.30322775del , CM000685.1:g.30322775del GRCh37
NC_000023.9:g.30232696del NCBI36
NG_009814.1:g.9721del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1334del MANE Select ENSP00000368253.4:p.Ala445ValfsTer17
ENST00000378970.4:c.1334del ENSP00000368253.4:p.Ala445ValfsTer17
NM_000475.4:c.1334del NP_000466.2:p.Ala445ValfsTer17
NM_000475.5:c.1334del MANE Select NP_000466.2:p.Ala445ValfsTer17