Canonical Allele Identifier: CA913185998

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658593dup , CM000667.2:g.53658593dup	GRCh38
NC_000005.9:g.52954423dup , CM000667.1:g.52954423dup	GRCh37
NC_000005.8:g.52990180dup	NCBI36
NG_008200.1:g.102959dup

Transcript Alleles

HGVS	Amino-acid Change
NM_002495.4:c.393dup MANE Select	NP_002486.1:p.Glu132ArgfsTer15
ENST00000296684.10:c.393dup MANE Select	ENSP00000296684.5:p.Glu132ArgfsTer15
NM_001318051.1:c.350+12188dup	NP_001304980.1:n.350+12188dup
NM_001318051.2:c.350+12188dup	NP_001304980.1:n.350+12188dup
NM_002495.2:c.393dup	NP_002486.1:p.Glu132ArgfsTer15
NM_002495.3:c.393dup	NP_002486.1:p.Glu132ArgfsTer15
NR_134473.1:n.595dup
NR_134473.2:n.589dup
NR_134474.1:n.512dup
NR_134474.2:n.506dup
NR_134475.1:n.547dup
NR_134475.2:n.541dup
ENST00000296684.9:c.393dup	ENSP00000296684.5:p.Glu132ArgfsTer15
ENST00000502423.5:c.*260dup	ENSP00000422177.1:n.*260dup
ENST00000506765.1:c.338+12188dup	ENSP00000424570.1:n.338+12188dup
ENST00000506974.5:c.*169dup	ENSP00000425967.1:n.*169dup
ENST00000507026.5:c.*367dup	ENSP00000424993.1:n.*367dup
ENST00000509443.1:n.254dup
XM_005248525.3:c.350+12188dup	XP_005248582.1:n.350+12188dup
XM_011543415.1:c.219dup	XP_011541717.1:p.Glu74ArgfsTer15