Canonical Allele Identifier: CA1546666361

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658749_53658750delinsGT , CM000667.2:g.53658749_53658750delinsGT	GRCh38
NC_000005.9:g.52954579_52954580delinsGT , CM000667.1:g.52954579_52954580delinsGT	GRCh37
NC_000005.8:g.52990336_52990337delinsGT	NCBI36
NG_008200.1:g.103115_103116delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+125_424+126delinsGT MANE Select	ENSP00000296684.5:n.424+125_424+126delinsGT
ENST00000296684.9:c.424+125_424+126delinsGT	ENSP00000296684.5:n.424+125_424+126delinsGT
ENST00000502423.5:c.*291+125_*291+126delinsGT	ENSP00000422177.1:n.*291+125_*291+126delinsGT
ENST00000506765.1:c.338+12344_338+12345delinsGT	ENSP00000424570.1:n.338+12344_338+12345delinsGT
ENST00000506974.5:c.*200+125_*200+126delinsGT	ENSP00000425967.1:n.*200+125_*200+126delinsGT
ENST00000507026.5:c.*398+125_*398+126delinsGT	ENSP00000424993.1:n.*398+125_*398+126delinsGT
ENST00000509443.1:n.410_411delinsGT
NM_002495.2:c.424+125_424+126delinsGT	NP_002486.1:n.424+125_424+126delinsGT
XM_005248525.3:c.350+12344_350+12345delinsGT	XP_005248582.1:n.350+12344_350+12345delinsGT
XM_011543415.1:c.250+125_250+126delinsGT	XP_011541717.1:n.250+125_250+126delinsGT
NM_001318051.1:c.350+12344_350+12345delinsGT	NP_001304980.1:n.350+12344_350+12345delinsGT
NM_002495.3:c.424+125_424+126delinsGT	NP_002486.1:n.424+125_424+126delinsGT
NR_134473.1:n.626+125_626+126delinsGT
NR_134474.1:n.543+125_543+126delinsGT
NR_134475.1:n.578+125_578+126delinsGT
NM_002495.4:c.424+125_424+126delinsGT MANE Select	NP_002486.1:n.424+125_424+126delinsGT
NM_001318051.2:c.350+12344_350+12345delinsGT	NP_001304980.1:n.350+12344_350+12345delinsGT
NR_134473.2:n.620+125_620+126delinsGT
NR_134474.2:n.537+125_537+126delinsGT
NR_134475.2:n.572+125_572+126delinsGT