Canonical Allele Identifier: CA2709015279
Gene: NDUFS4 HGNC NCBI

Linked Data

dbSNP Id: rs2112522225

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658788_53658789insGA , CM000667.2:g.53658788_53658789insGA GRCh38
NC_000005.9:g.52954618_52954619insGA , CM000667.1:g.52954618_52954619insGA GRCh37
NC_000005.8:g.52990375_52990376insGA NCBI36
NG_008200.1:g.103154_103155insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.424+164_424+165insGA MANE Select ENSP00000296684.5:n.424+164_424+165insGA
ENST00000296684.9:c.424+164_424+165insGA ENSP00000296684.5:n.424+164_424+165insGA
ENST00000502423.5:c.*291+164_*291+165insGA ENSP00000422177.1:n.*291+164_*291+165insGA
ENST00000506765.1:c.338+12383_338+12384insGA ENSP00000424570.1:n.338+12383_338+12384insGA
ENST00000506974.5:c.*200+164_*200+165insGA ENSP00000425967.1:n.*200+164_*200+165insGA
ENST00000507026.5:c.*398+164_*398+165insGA ENSP00000424993.1:n.*398+164_*398+165insGA
ENST00000509443.1:n.449_450insGA
NM_002495.2:c.424+164_424+165insGA NP_002486.1:n.424+164_424+165insGA
XM_005248525.3:c.350+12383_350+12384insGA XP_005248582.1:n.350+12383_350+12384insGA
XM_011543415.1:c.250+164_250+165insGA XP_011541717.1:n.250+164_250+165insGA
NM_001318051.1:c.350+12383_350+12384insGA NP_001304980.1:n.350+12383_350+12384insGA
NM_002495.3:c.424+164_424+165insGA NP_002486.1:n.424+164_424+165insGA
NR_134473.1:n.626+164_626+165insGA
NR_134474.1:n.543+164_543+165insGA
NR_134475.1:n.578+164_578+165insGA
NM_002495.4:c.424+164_424+165insGA MANE Select NP_002486.1:n.424+164_424+165insGA
NM_001318051.2:c.350+12383_350+12384insGA NP_001304980.1:n.350+12383_350+12384insGA
NR_134473.2:n.620+164_620+165insGA
NR_134474.2:n.537+164_537+165insGA
NR_134475.2:n.572+164_572+165insGA