Canonical Allele Identifier: CA2695232187
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308515_30308516delinsGG , CM000685.2:g.30308515_30308516delinsGG GRCh38
NC_000023.10:g.30326632_30326633delinsGG , CM000685.1:g.30326632_30326633delinsGG GRCh37
NC_000023.9:g.30236553_30236554delinsGG NCBI36
NG_009814.1:g.5863_5864delinsCC

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.848_849delinsCC MANE Select ENSP00000368253.4:p.Gln283Pro
ENST00000378970.4:c.848_849delinsCC ENSP00000368253.4:p.Gln283Pro
NM_000475.4:c.848_849delinsCC NP_000466.2:p.Gln283Pro
NM_000475.5:c.848_849delinsCC MANE Select NP_000466.2:p.Gln283Pro