Canonical Allele Identifier: CA2578308551

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658688del , CM000667.2:g.53658688del	GRCh38
NC_000005.9:g.52954518del , CM000667.1:g.52954518del	GRCh37
NC_000005.8:g.52990275del	NCBI36
NG_008200.1:g.103054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+64del MANE Select	ENSP00000296684.5:n.424+64del
ENST00000296684.9:c.424+64del	ENSP00000296684.5:n.424+64del
ENST00000502423.5:c.*291+64del	ENSP00000422177.1:n.*291+64del
ENST00000506765.1:c.338+12283del	ENSP00000424570.1:n.338+12283del
ENST00000506974.5:c.*200+64del	ENSP00000425967.1:n.*200+64del
ENST00000507026.5:c.*398+64del	ENSP00000424993.1:n.*398+64del
ENST00000509443.1:n.349del
NM_002495.2:c.424+64del	NP_002486.1:n.424+64del
XM_005248525.3:c.350+12283del	XP_005248582.1:n.350+12283del
XM_011543415.1:c.250+64del	XP_011541717.1:n.250+64del
NM_001318051.1:c.350+12283del	NP_001304980.1:n.350+12283del
NM_002495.3:c.424+64del	NP_002486.1:n.424+64del
NR_134473.1:n.626+64del
NR_134474.1:n.543+64del
NR_134475.1:n.578+64del
NM_002495.4:c.424+64del MANE Select	NP_002486.1:n.424+64del
NM_001318051.2:c.350+12283del	NP_001304980.1:n.350+12283del
NR_134473.2:n.620+64del
NR_134474.2:n.537+64del
NR_134475.2:n.572+64del