Canonical Allele Identifier: CA1546660872

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646373_53646377delinsATGGG , CM000667.2:g.53646373_53646377delinsATGGG	GRCh38
NC_000005.9:g.52942203_52942207delinsATGGG , CM000667.1:g.52942203_52942207delinsATGGG	GRCh37
NC_000005.8:g.52977960_52977964delinsATGGG	NCBI36
NG_008200.1:g.90739_90743delinsATGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.318_322delinsATGGG MANE Select	ENSP00000296684.5:p.Arg106=
ENST00000296684.9:c.318_322delinsATGGG	ENSP00000296684.5:p.Arg106=
ENST00000502423.5:c.*185_*189delinsATGGG	ENSP00000422177.1:n.*185_*189delinsATGGG
ENST00000506765.1:c.306_310delinsATGGG	ENSP00000424570.1:p.Arg102=
ENST00000506974.5:c.*94_*98delinsATGGG	ENSP00000425967.1:n.*94_*98delinsATGGG
ENST00000507026.5:c.*292_*296delinsATGGG	ENSP00000424993.1:n.*292_*296delinsATGGG
ENST00000509443.1:n.179_183delinsATGGG
NM_002495.2:c.318_322delinsATGGG	NP_002486.1:p.Arg106=
XM_005248525.3:c.318_322delinsATGGG	XP_005248582.1:p.Arg106=
XM_011543415.1:c.144_148delinsATGGG	XP_011541717.1:p.Arg48=
NM_001318051.1:c.318_322delinsATGGG	NP_001304980.1:p.Arg106=
NM_002495.3:c.318_322delinsATGGG	NP_002486.1:p.Arg106=
NR_134473.1:n.520_524delinsATGGG
NR_134474.1:n.437_441delinsATGGG
NR_134475.1:n.472_476delinsATGGG
NM_002495.4:c.318_322delinsATGGG MANE Select	NP_002486.1:p.Arg106=
NM_001318051.2:c.318_322delinsATGGG	NP_001304980.1:p.Arg106=
NR_134473.2:n.514_518delinsATGGG
NR_134474.2:n.431_435delinsATGGG
NR_134475.2:n.466_470delinsATGGG