Canonical Allele Identifier: CA2673829491

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658762-ACTACATCAGAACACCCACCTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658763_53658784del , CM000667.2:g.53658763_53658784del	GRCh38
NC_000005.9:g.52954593_52954614del , CM000667.1:g.52954593_52954614del	GRCh37
NC_000005.8:g.52990350_52990371del	NCBI36
NG_008200.1:g.103129_103150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+139_424+160del MANE Select	ENSP00000296684.5:n.424+139_424+160del
ENST00000296684.9:c.424+139_424+160del	ENSP00000296684.5:n.424+139_424+160del
ENST00000502423.5:c.*291+139_*291+160del	ENSP00000422177.1:n.*291+139_*291+160del
ENST00000506765.1:c.338+12358_338+12379del	ENSP00000424570.1:n.338+12358_338+12379del
ENST00000506974.5:c.*200+139_*200+160del	ENSP00000425967.1:n.*200+139_*200+160del
ENST00000507026.5:c.*398+139_*398+160del	ENSP00000424993.1:n.*398+139_*398+160del
ENST00000509443.1:n.424_445del
NM_002495.2:c.424+139_424+160del	NP_002486.1:n.424+139_424+160del
XM_005248525.3:c.350+12358_350+12379del	XP_005248582.1:n.350+12358_350+12379del
XM_011543415.1:c.250+139_250+160del	XP_011541717.1:n.250+139_250+160del
NM_001318051.1:c.350+12358_350+12379del	NP_001304980.1:n.350+12358_350+12379del
NM_002495.3:c.424+139_424+160del	NP_002486.1:n.424+139_424+160del
NR_134473.1:n.626+139_626+160del
NR_134474.1:n.543+139_543+160del
NR_134475.1:n.578+139_578+160del
NM_002495.4:c.424+139_424+160del MANE Select	NP_002486.1:n.424+139_424+160del
NM_001318051.2:c.350+12358_350+12379del	NP_001304980.1:n.350+12358_350+12379del
NR_134473.2:n.620+139_620+160del
NR_134474.2:n.537+139_537+160del
NR_134475.2:n.572+139_572+160del