Canonical Allele Identifier: CA2695232150
Gene: NR0B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304736del , CM000685.2:g.30304736del GRCh38
NC_000023.10:g.30322853del , CM000685.1:g.30322853del GRCh37
NC_000023.9:g.30232774del NCBI36
NG_009814.1:g.9643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1256del MANE Select ENSP00000368253.4:p.His419ProfsTer18
ENST00000378970.4:c.1256del ENSP00000368253.4:p.His419ProfsTer18
NM_000475.4:c.1256del NP_000466.2:p.His419ProfsTer18
NM_000475.5:c.1256del MANE Select NP_000466.2:p.His419ProfsTer18
Search 100 bp 5'
Search 100 bp 3'