Canonical Allele Identifier: CA2695232167
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308306_30308307del , CM000685.2:g.30308306_30308307del GRCh38
NC_000023.10:g.30326423_30326424del , CM000685.1:g.30326423_30326424del GRCh37
NC_000023.9:g.30236344_30236345del NCBI36
NG_009814.1:g.6073_6074del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1058_1059del MANE Select ENSP00000368253.4:p.Pro353LeufsTer?
ENST00000378963.1:c.173_174del ENSP00000368246.1:p.Pro58LeufsTer?
ENST00000378970.4:c.1058_1059del ENSP00000368253.4:p.Pro353LeufsTer?
NM_000475.4:c.1058_1059del NP_000466.2:p.Pro353LeufsTer?
NM_000475.5:c.1058_1059del MANE Select NP_000466.2:p.Pro353LeufsTer?