Canonical Allele Identifier: CA2739290473
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308516_30308533dup , CM000685.2:g.30308516_30308533dup GRCh38
NC_000023.10:g.30326633_30326650dup , CM000685.1:g.30326633_30326650dup GRCh37
NC_000023.9:g.30236554_30236571dup NCBI36
NG_009814.1:g.5850_5867dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.835_852dup MANE Select ENSP00000368253.4:p.Leu284_Val285insProLe...
ENST00000378970.4:c.835_852dup ENSP00000368253.4:p.Leu284_Val285insProLe...
NM_000475.4:c.835_852dup NP_000466.2:p.Leu284_Val285insProLeuAspGl...
NM_000475.5:c.835_852dup MANE Select NP_000466.2:p.Leu284_Val285insProLeuAspGl...