Canonical Allele Identifier: CA2766484967

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658784_53658790del , CM000667.2:g.53658784_53658790del	GRCh38
NC_000005.9:g.52954614_52954620del , CM000667.1:g.52954614_52954620del	GRCh37
NC_000005.8:g.52990371_52990377del	NCBI36
NG_008200.1:g.103150_103156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+160_424+166del MANE Select	ENSP00000296684.5:n.424+160_424+166del
ENST00000296684.9:c.424+160_424+166del	ENSP00000296684.5:n.424+160_424+166del
ENST00000502423.5:c.*291+160_*291+166del	ENSP00000422177.1:n.*291+160_*291+166del
ENST00000506765.1:c.338+12379_338+12385del	ENSP00000424570.1:n.338+12379_338+12385del
ENST00000506974.5:c.*200+160_*200+166del	ENSP00000425967.1:n.*200+160_*200+166del
ENST00000507026.5:c.*398+160_*398+166del	ENSP00000424993.1:n.*398+160_*398+166del
NM_002495.2:c.424+160_424+166del	NP_002486.1:n.424+160_424+166del
XM_005248525.3:c.350+12379_350+12385del	XP_005248582.1:n.350+12379_350+12385del
XM_011543415.1:c.250+160_250+166del	XP_011541717.1:n.250+160_250+166del
NM_001318051.1:c.350+12379_350+12385del	NP_001304980.1:n.350+12379_350+12385del
NM_002495.3:c.424+160_424+166del	NP_002486.1:n.424+160_424+166del
NR_134473.1:n.626+160_626+166del
NR_134474.1:n.543+160_543+166del
NR_134475.1:n.578+160_578+166del
NM_002495.4:c.424+160_424+166del MANE Select	NP_002486.1:n.424+160_424+166del
NM_001318051.2:c.350+12379_350+12385del	NP_001304980.1:n.350+12379_350+12385del
NR_134473.2:n.620+160_620+166del
NR_134474.2:n.537+160_537+166del
NR_134475.2:n.572+160_572+166del