Canonical Allele Identifier: CA2563445718

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658529dup , CM000667.2:g.53658529dup	GRCh38
NC_000005.9:g.52954359dup , CM000667.1:g.52954359dup	GRCh37
NC_000005.8:g.52990116dup	NCBI36
NG_008200.1:g.102895dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351-22dup MANE Select	ENSP00000296684.5:n.351-22dup
ENST00000296684.9:c.351-22dup	ENSP00000296684.5:n.351-22dup
ENST00000502423.5:c.*218-22dup	ENSP00000422177.1:n.*218-22dup
ENST00000506765.1:c.338+12124dup	ENSP00000424570.1:n.338+12124dup
ENST00000506974.5:c.*127-22dup	ENSP00000425967.1:n.*127-22dup
ENST00000507026.5:c.*325-22dup	ENSP00000424993.1:n.*325-22dup
ENST00000509443.1:n.212-22dup
NM_002495.2:c.351-22dup	NP_002486.1:n.351-22dup
XM_005248525.3:c.350+12124dup	XP_005248582.1:n.350+12124dup
XM_011543415.1:c.177-22dup	XP_011541717.1:n.177-22dup
NM_001318051.1:c.350+12124dup	NP_001304980.1:n.350+12124dup
NM_002495.3:c.351-22dup	NP_002486.1:n.351-22dup
NR_134473.1:n.553-22dup
NR_134474.1:n.470-22dup
NR_134475.1:n.505-22dup
NM_002495.4:c.351-22dup MANE Select	NP_002486.1:n.351-22dup
NM_001318051.2:c.350+12124dup	NP_001304980.1:n.350+12124dup
NR_134473.2:n.547-22dup
NR_134474.2:n.464-22dup
NR_134475.2:n.499-22dup