Canonical Allele Identifier: CA2842485083

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646451_53646452insGTTTT , CM000667.2:g.53646451_53646452insGTTTT	GRCh38
NC_000005.9:g.52942281_52942282insGTTTT , CM000667.1:g.52942281_52942282insGTTTT	GRCh37
NC_000005.8:g.52978038_52978039insGTTTT	NCBI36
NG_008200.1:g.90817_90818insGTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.350+46_350+47insGTTTT MANE Select	ENSP00000296684.5:n.350+46_350+47insGTTTT
ENST00000296684.9:c.350+46_350+47insGTTTT	ENSP00000296684.5:n.350+46_350+47insGTTTT
ENST00000502423.5:c.*217+46_*217+47insGTTTT	ENSP00000422177.1:n.*217+46_*217+47insGTTTT
ENST00000506765.1:c.338+46_338+47insGTTTT	ENSP00000424570.1:n.338+46_338+47insGTTTT
ENST00000506974.5:c.*126+46_*126+47insGTTTT	ENSP00000425967.1:n.*126+46_*126+47insGTTTT
ENST00000507026.5:c.*324+46_*324+47insGTTTT	ENSP00000424993.1:n.*324+46_*324+47insGTTTT
ENST00000509443.1:n.211+46_211+47insGTTTT
NM_002495.2:c.350+46_350+47insGTTTT	NP_002486.1:n.350+46_350+47insGTTTT
XM_005248525.3:c.350+46_350+47insGTTTT	XP_005248582.1:n.350+46_350+47insGTTTT
XM_011543415.1:c.176+46_176+47insGTTTT	XP_011541717.1:n.176+46_176+47insGTTTT
NM_001318051.1:c.350+46_350+47insGTTTT	NP_001304980.1:n.350+46_350+47insGTTTT
NM_002495.3:c.350+46_350+47insGTTTT	NP_002486.1:n.350+46_350+47insGTTTT
NR_134473.1:n.552+46_552+47insGTTTT
NR_134474.1:n.469+46_469+47insGTTTT
NR_134475.1:n.504+46_504+47insGTTTT
NM_002495.4:c.350+46_350+47insGTTTT MANE Select	NP_002486.1:n.350+46_350+47insGTTTT
NM_001318051.2:c.350+46_350+47insGTTTT	NP_001304980.1:n.350+46_350+47insGTTTT
NR_134473.2:n.546+46_546+47insGTTTT
NR_134474.2:n.463+46_463+47insGTTTT
NR_134475.2:n.498+46_498+47insGTTTT