Canonical Allele Identifier: CA2766484930
Gene: NDUFS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53646216_53646217del , CM000667.2:g.53646216_53646217del GRCh38
NC_000005.9:g.52942046_52942047del , CM000667.1:g.52942046_52942047del GRCh37
NC_000005.8:g.52977803_52977804del NCBI36
NG_008200.1:g.90582_90583del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.178-17_178-16del MANE Select ENSP00000296684.5:n.178-17_178-16del
ENST00000296684.9:c.178-17_178-16del ENSP00000296684.5:n.178-17_178-16del
ENST00000502423.5:c.*45-17_*45-16del ENSP00000422177.1:n.*45-17_*45-16del
ENST00000506765.1:c.166-17_166-16del ENSP00000424570.1:n.166-17_166-16del
ENST00000506974.5:c.350-17_350-16del ENSP00000425967.1:n.350-17_350-16del
ENST00000507026.5:c.*152-17_*152-16del ENSP00000424993.1:n.*152-17_*152-16del
ENST00000509443.1:n.22_23del
NM_002495.2:c.178-17_178-16del NP_002486.1:n.178-17_178-16del
XM_005248525.3:c.178-17_178-16del XP_005248582.1:n.178-17_178-16del
XM_011543415.1:c.4-17_4-16del XP_011541717.1:n.4-17_4-16del
NM_001318051.1:c.178-17_178-16del NP_001304980.1:n.178-17_178-16del
NM_002495.3:c.178-17_178-16del NP_002486.1:n.178-17_178-16del
NR_134473.1:n.380-17_380-16del
NR_134474.1:n.297-17_297-16del
NR_134475.1:n.332-17_332-16del
NM_002495.4:c.178-17_178-16del MANE Select NP_002486.1:n.178-17_178-16del
NM_001318051.2:c.178-17_178-16del NP_001304980.1:n.178-17_178-16del
NR_134473.2:n.374-17_374-16del
NR_134474.2:n.291-17_291-16del
NR_134475.2:n.326-17_326-16del