Canonical Allele Identifier: CA2695232177
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308410_30308417del , CM000685.2:g.30308410_30308417del GRCh38
NC_000023.10:g.30326527_30326534del , CM000685.1:g.30326527_30326534del GRCh37
NC_000023.9:g.30236448_30236455del NCBI36
NG_009814.1:g.5962_5969del

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.947_954del MANE Select ENSP00000368253.4:p.Met316LysfsTer?
ENST00000378963.1:c.62_69del ENSP00000368246.1:p.Met21LysfsTer?
ENST00000378970.4:c.947_954del ENSP00000368253.4:p.Met316LysfsTer?
NM_000475.4:c.947_954del NP_000466.2:p.Met316LysfsTer?
NM_000475.5:c.947_954del MANE Select NP_000466.2:p.Met316LysfsTer?