Canonical Allele Identifier: CA1546666433

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658824_53658830delinsACAACAT , CM000667.2:g.53658824_53658830delinsACAACAT	GRCh38
NC_000005.9:g.52954654_52954660delinsACAACAT , CM000667.1:g.52954654_52954660delinsACAACAT	GRCh37
NC_000005.8:g.52990411_52990417delinsACAACAT	NCBI36
NG_008200.1:g.103190_103196delinsACAACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+200_424+206delinsACAACAT MANE Select	ENSP00000296684.5:n.424+200_424+206delinsACAACAT
ENST00000296684.9:c.424+200_424+206delinsACAACAT	ENSP00000296684.5:n.424+200_424+206delinsACAACAT
ENST00000502423.5:c.*291+200_*291+206delinsACAACAT	ENSP00000422177.1:n.*291+200_*291+206delinsACAACAT
ENST00000506765.1:c.338+12419_338+12425delinsACAACAT	ENSP00000424570.1:n.338+12419_338+12425delinsACAACAT
ENST00000506974.5:c.*200+200_*200+206delinsACAACAT	ENSP00000425967.1:n.*200+200_*200+206delinsACAACAT
ENST00000507026.5:c.*398+200_*398+206delinsACAACAT	ENSP00000424993.1:n.*398+200_*398+206delinsACAACAT
NM_002495.2:c.424+200_424+206delinsACAACAT	NP_002486.1:n.424+200_424+206delinsACAACAT
XM_005248525.3:c.350+12419_350+12425delinsACAACAT	XP_005248582.1:n.350+12419_350+12425delinsACAACAT
XM_011543415.1:c.250+200_250+206delinsACAACAT	XP_011541717.1:n.250+200_250+206delinsACAACAT
NM_001318051.1:c.350+12419_350+12425delinsACAACAT	NP_001304980.1:n.350+12419_350+12425delinsACAACAT
NM_002495.3:c.424+200_424+206delinsACAACAT	NP_002486.1:n.424+200_424+206delinsACAACAT
NR_134473.1:n.626+200_626+206delinsACAACAT
NR_134474.1:n.543+200_543+206delinsACAACAT
NR_134475.1:n.578+200_578+206delinsACAACAT
NM_002495.4:c.424+200_424+206delinsACAACAT MANE Select	NP_002486.1:n.424+200_424+206delinsACAACAT
NM_001318051.2:c.350+12419_350+12425delinsACAACAT	NP_001304980.1:n.350+12419_350+12425delinsACAACAT
NR_134473.2:n.620+200_620+206delinsACAACAT
NR_134474.2:n.537+200_537+206delinsACAACAT
NR_134475.2:n.572+200_572+206delinsACAACAT