Canonical Allele Identifier: CA1076121970

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1752240843
• gnomAD v3: 5-53658824-ACAACAT-A
• gnomAD v4: 5-53658824-ACAACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658825_53658830del , CM000667.2:g.53658825_53658830del	GRCh38
NC_000005.9:g.52954655_52954660del , CM000667.1:g.52954655_52954660del	GRCh37
NC_000005.8:g.52990412_52990417del	NCBI36
NG_008200.1:g.103191_103196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+201_424+206del MANE Select	ENSP00000296684.5:n.424+201_424+206del
ENST00000296684.9:c.424+201_424+206del	ENSP00000296684.5:n.424+201_424+206del
ENST00000502423.5:c.*291+201_*291+206del	ENSP00000422177.1:n.*291+201_*291+206del
ENST00000506765.1:c.338+12420_338+12425del	ENSP00000424570.1:n.338+12420_338+12425del
ENST00000506974.5:c.*200+201_*200+206del	ENSP00000425967.1:n.*200+201_*200+206del
ENST00000507026.5:c.*398+201_*398+206del	ENSP00000424993.1:n.*398+201_*398+206del
NM_002495.2:c.424+201_424+206del	NP_002486.1:n.424+201_424+206del
XM_005248525.3:c.350+12420_350+12425del	XP_005248582.1:n.350+12420_350+12425del
XM_011543415.1:c.250+201_250+206del	XP_011541717.1:n.250+201_250+206del
NM_001318051.1:c.350+12420_350+12425del	NP_001304980.1:n.350+12420_350+12425del
NM_002495.3:c.424+201_424+206del	NP_002486.1:n.424+201_424+206del
NR_134473.1:n.626+201_626+206del
NR_134474.1:n.543+201_543+206del
NR_134475.1:n.578+201_578+206del
NM_002495.4:c.424+201_424+206del MANE Select	NP_002486.1:n.424+201_424+206del
NM_001318051.2:c.350+12420_350+12425del	NP_001304980.1:n.350+12420_350+12425del
NR_134473.2:n.620+201_620+206del
NR_134474.2:n.537+201_537+206del
NR_134475.2:n.572+201_572+206del