Canonical Allele Identifier: CA2695232188
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308529del , CM000685.2:g.30308529del GRCh38
NC_000023.10:g.30326646del , CM000685.1:g.30326646del GRCh37
NC_000023.9:g.30236567del NCBI36
NG_009814.1:g.5853del

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.838del MANE Select ENSP00000368253.4:p.Leu280TrpfsTer?
ENST00000378970.4:c.838del ENSP00000368253.4:p.Leu280TrpfsTer?
NM_000475.4:c.838del NP_000466.2:p.Leu280TrpfsTer?
NM_000475.5:c.838del MANE Select NP_000466.2:p.Leu280TrpfsTer?