Canonical Allele Identifier: CA2693382733
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30304813-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304816del , CM000685.2:g.30304816del GRCh38
NC_000023.10:g.30322933del , CM000685.1:g.30322933del GRCh37
NC_000023.9:g.30232854del NCBI36
NG_009814.1:g.9565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1178del MANE Select ENSP00000368253.4:p.Gly393AlafsTer5
ENST00000378970.4:c.1178del ENSP00000368253.4:p.Gly393AlafsTer5
NM_000475.4:c.1178del NP_000466.2:p.Gly393AlafsTer5
NM_000475.5:c.1178del MANE Select NP_000466.2:p.Gly393AlafsTer5
Search 100 bp 5'
Search 100 bp 3'