Canonical Allele Identifier: CA2695232136

Gene: NR0B1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30304615_30304616del , CM000685.2:g.30304615_30304616del	GRCh38
NC_000023.10:g.30322732_30322733del , CM000685.1:g.30322732_30322733del	GRCh37
NC_000023.9:g.30232653_30232654del	NCBI36
NG_009814.1:g.9763_9764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1376_1377del MANE Select	ENSP00000368253.4:p.Asp459GlyfsTer?
ENST00000378970.4:c.1376_1377del	ENSP00000368253.4:p.Asp459GlyfsTer?
NM_000475.4:c.1376_1377del	NP_000466.2:p.Asp459GlyfsTer?
NM_000475.5:c.1376_1377del MANE Select	NP_000466.2:p.Asp459GlyfsTer?