Canonical Allele Identifier: CA2673829338

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658460-GATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658461_53658463del , CM000667.2:g.53658461_53658463del	GRCh38
NC_000005.9:g.52954291_52954293del , CM000667.1:g.52954291_52954293del	GRCh37
NC_000005.8:g.52990048_52990050del	NCBI36
NG_008200.1:g.102827_102829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-90_351-88del MANE Select	ENSP00000296684.5:n.351-90_351-88del
ENST00000296684.9:c.351-90_351-88del	ENSP00000296684.5:n.351-90_351-88del
ENST00000502423.5:c.*218-90_*218-88del	ENSP00000422177.1:n.*218-90_*218-88del
ENST00000506765.1:c.338+12056_338+12058del	ENSP00000424570.1:n.338+12056_338+12058del
ENST00000506974.5:c.*127-90_*127-88del	ENSP00000425967.1:n.*127-90_*127-88del
ENST00000507026.5:c.*325-90_*325-88del	ENSP00000424993.1:n.*325-90_*325-88del
ENST00000509443.1:n.212-90_212-88del
NM_002495.2:c.351-90_351-88del	NP_002486.1:n.351-90_351-88del
XM_005248525.3:c.350+12056_350+12058del	XP_005248582.1:n.350+12056_350+12058del
XM_011543415.1:c.177-90_177-88del	XP_011541717.1:n.177-90_177-88del
NM_001318051.1:c.350+12056_350+12058del	NP_001304980.1:n.350+12056_350+12058del
NM_002495.3:c.351-90_351-88del	NP_002486.1:n.351-90_351-88del
NR_134473.1:n.553-90_553-88del
NR_134474.1:n.470-90_470-88del
NR_134475.1:n.505-90_505-88del
NM_002495.4:c.351-90_351-88del MANE Select	NP_002486.1:n.351-90_351-88del
NM_001318051.2:c.350+12056_350+12058del	NP_001304980.1:n.350+12056_350+12058del
NR_134473.2:n.547-90_547-88del
NR_134474.2:n.464-90_464-88del
NR_134475.2:n.499-90_499-88del