Canonical Allele Identifier: CA2695232185
Gene: NR0B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308501_30308520del , CM000685.2:g.30308501_30308520del GRCh38
NC_000023.10:g.30326618_30326637del , CM000685.1:g.30326618_30326637del GRCh37
NC_000023.9:g.30236539_30236558del NCBI36
NG_009814.1:g.5861_5880del

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.846_865del MANE Select ENSP00000368253.4:p.Gln283LeufsTer9
ENST00000378970.4:c.846_865del ENSP00000368253.4:p.Gln283LeufsTer9
NM_000475.4:c.846_865del NP_000466.2:p.Gln283LeufsTer9
NM_000475.5:c.846_865del MANE Select NP_000466.2:p.Gln283LeufsTer9
Search 100 bp 5'
Search 100 bp 3'