Canonical Allele Identifier: CA2695232183
Gene: NR0B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308484_30308534del , CM000685.2:g.30308484_30308534del GRCh38
NC_000023.10:g.30326601_30326651del , CM000685.1:g.30326601_30326651del GRCh37
NC_000023.9:g.30236522_30236572del NCBI36
NG_009814.1:g.5849_5899del

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.834_884del MANE Select ENSP00000368253.4:p.Pro279_Leu295del
ENST00000378970.4:c.834_884del ENSP00000368253.4:p.Pro279_Leu295del
NM_000475.4:c.834_884del NP_000466.2:p.Pro279_Leu295del
NM_000475.5:c.834_884del MANE Select NP_000466.2:p.Pro279_Leu295del