Canonical Allele Identifier: CA2673829351

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658471-AGCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658472_53658475del , CM000667.2:g.53658472_53658475del	GRCh38
NC_000005.9:g.52954302_52954305del , CM000667.1:g.52954302_52954305del	GRCh37
NC_000005.8:g.52990059_52990062del	NCBI36
NG_008200.1:g.102838_102841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-79_351-76del MANE Select	ENSP00000296684.5:n.351-79_351-76del
ENST00000296684.9:c.351-79_351-76del	ENSP00000296684.5:n.351-79_351-76del
ENST00000502423.5:c.*218-79_*218-76del	ENSP00000422177.1:n.*218-79_*218-76del
ENST00000506765.1:c.338+12067_338+12070del	ENSP00000424570.1:n.338+12067_338+12070del
ENST00000506974.5:c.*127-79_*127-76del	ENSP00000425967.1:n.*127-79_*127-76del
ENST00000507026.5:c.*325-79_*325-76del	ENSP00000424993.1:n.*325-79_*325-76del
ENST00000509443.1:n.212-79_212-76del
NM_002495.2:c.351-79_351-76del	NP_002486.1:n.351-79_351-76del
XM_005248525.3:c.350+12067_350+12070del	XP_005248582.1:n.350+12067_350+12070del
XM_011543415.1:c.177-79_177-76del	XP_011541717.1:n.177-79_177-76del
NM_001318051.1:c.350+12067_350+12070del	NP_001304980.1:n.350+12067_350+12070del
NM_002495.3:c.351-79_351-76del	NP_002486.1:n.351-79_351-76del
NR_134473.1:n.553-79_553-76del
NR_134474.1:n.470-79_470-76del
NR_134475.1:n.505-79_505-76del
NM_002495.4:c.351-79_351-76del MANE Select	NP_002486.1:n.351-79_351-76del
NM_001318051.2:c.350+12067_350+12070del	NP_001304980.1:n.350+12067_350+12070del
NR_134473.2:n.547-79_547-76del
NR_134474.2:n.464-79_464-76del
NR_134475.2:n.499-79_499-76del