Canonical Allele Identifier: CA2579577214
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308405-ATCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308409_30308411del , CM000685.2:g.30308409_30308411del GRCh38
NC_000023.10:g.30326526_30326528del , CM000685.1:g.30326526_30326528del GRCh37
NC_000023.9:g.30236447_30236449del NCBI36
NG_009814.1:g.5971_5973del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.956_958del MANE Select ENSP00000368253.4:p.Lys319del
ENST00000378963.1:c.71_73del ENSP00000368246.1:p.Lys24del
ENST00000378970.4:c.956_958del ENSP00000368253.4:p.Lys319del
NM_000475.4:c.956_958del NP_000466.2:p.Lys319del
NM_000475.5:c.956_958del MANE Select NP_000466.2:p.Lys319del
Search 100 bp 5'
Search 100 bp 3'