Canonical Allele Identifier: CA2695232166
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308303del , CM000685.2:g.30308303del GRCh38
NC_000023.10:g.30326420del , CM000685.1:g.30326420del GRCh37
NC_000023.9:g.30236341del NCBI36
NG_009814.1:g.6077del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1062del MANE Select ENSP00000368253.4:p.Ala355ProfsTer17
ENST00000378963.1:c.177del ENSP00000368246.1:p.Ala60ProfsTer17
ENST00000378970.4:c.1062del ENSP00000368253.4:p.Ala355ProfsTer17
NM_000475.4:c.1062del NP_000466.2:p.Ala355ProfsTer17
NM_000475.5:c.1062del MANE Select NP_000466.2:p.Ala355ProfsTer17