Canonical Allele Identifier: CA1546666208

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658419_53658420delinsAT , CM000667.2:g.53658419_53658420delinsAT	GRCh38
NC_000005.9:g.52954249_52954250delinsAT , CM000667.1:g.52954249_52954250delinsAT	GRCh37
NC_000005.8:g.52990006_52990007delinsAT	NCBI36
NG_008200.1:g.102785_102786delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-132_351-131delinsAT MANE Select	ENSP00000296684.5:n.351-132_351-131delinsAT
ENST00000296684.9:c.351-132_351-131delinsAT	ENSP00000296684.5:n.351-132_351-131delinsAT
ENST00000502423.5:c.*218-132_*218-131delinsAT	ENSP00000422177.1:n.*218-132_*218-131delinsAT
ENST00000506765.1:c.338+12014_338+12015delinsAT	ENSP00000424570.1:n.338+12014_338+12015delinsAT
ENST00000506974.5:c.*127-132_*127-131delinsAT	ENSP00000425967.1:n.*127-132_*127-131delinsAT
ENST00000507026.5:c.*325-132_*325-131delinsAT	ENSP00000424993.1:n.*325-132_*325-131delinsAT
ENST00000509443.1:n.212-132_212-131delinsAT
NM_002495.2:c.351-132_351-131delinsAT	NP_002486.1:n.351-132_351-131delinsAT
XM_005248525.3:c.350+12014_350+12015delinsAT	XP_005248582.1:n.350+12014_350+12015delinsAT
XM_011543415.1:c.177-132_177-131delinsAT	XP_011541717.1:n.177-132_177-131delinsAT
NM_001318051.1:c.350+12014_350+12015delinsAT	NP_001304980.1:n.350+12014_350+12015delinsAT
NM_002495.3:c.351-132_351-131delinsAT	NP_002486.1:n.351-132_351-131delinsAT
NR_134473.1:n.553-132_553-131delinsAT
NR_134474.1:n.470-132_470-131delinsAT
NR_134475.1:n.505-132_505-131delinsAT
NM_002495.4:c.351-132_351-131delinsAT MANE Select	NP_002486.1:n.351-132_351-131delinsAT
NM_001318051.2:c.350+12014_350+12015delinsAT	NP_001304980.1:n.350+12014_350+12015delinsAT
NR_134473.2:n.547-132_547-131delinsAT
NR_134474.2:n.464-132_464-131delinsAT
NR_134475.2:n.499-132_499-131delinsAT