Canonical Allele Identifier: CA2695232151
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304742_30304745dup , CM000685.2:g.30304742_30304745dup GRCh38
NC_000023.10:g.30322859_30322862dup , CM000685.1:g.30322859_30322862dup GRCh37
NC_000023.9:g.30232780_30232783dup NCBI36
NG_009814.1:g.9635_9638dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1248_1251dup MANE Select ENSP00000368253.4:p.Thr418AspfsTer8
ENST00000378970.4:c.1248_1251dup ENSP00000368253.4:p.Thr418AspfsTer8
NM_000475.4:c.1248_1251dup NP_000466.2:p.Thr418AspfsTer8
NM_000475.5:c.1248_1251dup MANE Select NP_000466.2:p.Thr418AspfsTer8