Canonical Allele Identifier: CA2695232147
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304713_30304715dup , CM000685.2:g.30304713_30304715dup GRCh38
NC_000023.10:g.30322830_30322832dup , CM000685.1:g.30322830_30322832dup GRCh37
NC_000023.9:g.30232751_30232753dup NCBI36
NG_009814.1:g.9666_9668dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1279_1281dup MANE Select ENSP00000368253.4:p.Ile427_Glu428insIle
ENST00000378970.4:c.1279_1281dup ENSP00000368253.4:p.Ile427_Glu428insIle
NM_000475.4:c.1279_1281dup NP_000466.2:p.Ile427_Glu428insIle
NM_000475.5:c.1279_1281dup MANE Select NP_000466.2:p.Ile427_Glu428insIle