Canonical Allele Identifier: CA559663161

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53683159_53683163dup , CM000667.2:g.53683159_53683163dup	GRCh38
NC_000005.9:g.52978989_52978993dup , CM000667.1:g.52978989_52978993dup	GRCh37
NC_000005.8:g.53014746_53014750dup	NCBI36
NG_008200.1:g.127525_127529dup

Transcript Alleles

HGVS	Amino-acid Change
NM_002495.4:c.466_470dup MANE Select	NP_002486.1:p.Lys158SerfsTer?
ENST00000296684.10:c.466_470dup MANE Select	ENSP00000296684.5:p.Lys158SerfsTer?
NM_001318051.1:c.*29_*33dup	NP_001304980.1:n.*29_*33dup
NM_001318051.2:c.*29_*33dup	NP_001304980.1:n.*29_*33dup
NM_002495.2:c.466_470dup	NP_002486.1:p.Lys158SerfsTer?
NM_002495.3:c.466_470dup	NP_002486.1:p.Lys158SerfsTer?
NR_134473.1:n.668_672dup
NR_134473.2:n.662_666dup
NR_134474.1:n.585_589dup
NR_134474.2:n.579_583dup
NR_134475.1:n.620_624dup
NR_134475.2:n.614_618dup
ENST00000296684.9:c.466_470dup	ENSP00000296684.5:p.Lys158SerfsTer?
ENST00000506765.1:c.380_384dup	ENSP00000424570.1:n.380_384dup
ENST00000506974.5:c.*242_*246dup	ENSP00000425967.1:n.*242_*246dup
ENST00000507026.5:c.*440_*444dup	ENSP00000424993.1:n.*440_*444dup
XM_005248525.3:c.*29_*33dup	XP_005248582.1:n.*29_*33dup
XM_011543415.1:c.292_296dup	XP_011541717.1:p.Lys100SerfsTer?