Canonical Allele Identifier: CA2695232179

Gene: NR0B1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308421_30308422dup , CM000685.2:g.30308421_30308422dup	GRCh38
NC_000023.10:g.30326538_30326539dup , CM000685.1:g.30326538_30326539dup	GRCh37
NC_000023.9:g.30236459_30236460dup	NCBI36
NG_009814.1:g.5957_5958dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378970.5:c.942_943dup MANE Select	ENSP00000368253.4:p.Ser315ThrfsTer?
ENST00000378963.1:c.57_58dup	ENSP00000368246.1:p.Ser20ThrfsTer?
ENST00000378970.4:c.942_943dup	ENSP00000368253.4:p.Ser315ThrfsTer?
NM_000475.4:c.942_943dup	NP_000466.2:p.Ser315ThrfsTer?
NM_000475.5:c.942_943dup MANE Select	NP_000466.2:p.Ser315ThrfsTer?