Canonical Allele Identifier: CA1546666297

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658615_53658616delinsGA , CM000667.2:g.53658615_53658616delinsGA	GRCh38
NC_000005.9:g.52954445_52954446delinsGA , CM000667.1:g.52954445_52954446delinsGA	GRCh37
NC_000005.8:g.52990202_52990203delinsGA	NCBI36
NG_008200.1:g.102981_102982delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.415_416delinsGA MANE Select	ENSP00000296684.5:p.Glu139=
ENST00000296684.9:c.415_416delinsGA	ENSP00000296684.5:p.Glu139=
ENST00000502423.5:c.*282_*283delinsGA	ENSP00000422177.1:n.*282_*283delinsGA
ENST00000506765.1:c.338+12210_338+12211delinsGA	ENSP00000424570.1:n.338+12210_338+12211delinsGA
ENST00000506974.5:c.*191_*192delinsGA	ENSP00000425967.1:n.*191_*192delinsGA
ENST00000507026.5:c.*389_*390delinsGA	ENSP00000424993.1:n.*389_*390delinsGA
ENST00000509443.1:n.276_277delinsGA
NM_002495.2:c.415_416delinsGA	NP_002486.1:p.Glu139=
XM_005248525.3:c.350+12210_350+12211delinsGA	XP_005248582.1:n.350+12210_350+12211delinsGA
XM_011543415.1:c.241_242delinsGA	XP_011541717.1:p.Glu81=
NM_001318051.1:c.350+12210_350+12211delinsGA	NP_001304980.1:n.350+12210_350+12211delinsGA
NM_002495.3:c.415_416delinsGA	NP_002486.1:p.Glu139=
NR_134473.1:n.617_618delinsGA
NR_134474.1:n.534_535delinsGA
NR_134475.1:n.569_570delinsGA
NM_002495.4:c.415_416delinsGA MANE Select	NP_002486.1:p.Glu139=
NM_001318051.2:c.350+12210_350+12211delinsGA	NP_001304980.1:n.350+12210_350+12211delinsGA
NR_134473.2:n.611_612delinsGA
NR_134474.2:n.528_529delinsGA
NR_134475.2:n.563_564delinsGA