Canonical Allele Identifier: CA2673829458

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658731-A-AGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658731_53658732insGAC , CM000667.2:g.53658731_53658732insGAC	GRCh38
NC_000005.9:g.52954561_52954562insGAC , CM000667.1:g.52954561_52954562insGAC	GRCh37
NC_000005.8:g.52990318_52990319insGAC	NCBI36
NG_008200.1:g.103097_103098insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+107_424+108insGAC MANE Select	ENSP00000296684.5:n.424+107_424+108insGAC
ENST00000296684.9:c.424+107_424+108insGAC	ENSP00000296684.5:n.424+107_424+108insGAC
ENST00000502423.5:c.*291+107_*291+108insGAC	ENSP00000422177.1:n.*291+107_*291+108insGAC
ENST00000506765.1:c.338+12326_338+12327insGAC	ENSP00000424570.1:n.338+12326_338+12327insGAC
ENST00000506974.5:c.*200+107_*200+108insGAC	ENSP00000425967.1:n.*200+107_*200+108insGAC
ENST00000507026.5:c.*398+107_*398+108insGAC	ENSP00000424993.1:n.*398+107_*398+108insGAC
ENST00000509443.1:n.392_393insGAC
NM_002495.2:c.424+107_424+108insGAC	NP_002486.1:n.424+107_424+108insGAC
XM_005248525.3:c.350+12326_350+12327insGAC	XP_005248582.1:n.350+12326_350+12327insGAC
XM_011543415.1:c.250+107_250+108insGAC	XP_011541717.1:n.250+107_250+108insGAC
NM_001318051.1:c.350+12326_350+12327insGAC	NP_001304980.1:n.350+12326_350+12327insGAC
NM_002495.3:c.424+107_424+108insGAC	NP_002486.1:n.424+107_424+108insGAC
NR_134473.1:n.626+107_626+108insGAC
NR_134474.1:n.543+107_543+108insGAC
NR_134475.1:n.578+107_578+108insGAC
NM_002495.4:c.424+107_424+108insGAC MANE Select	NP_002486.1:n.424+107_424+108insGAC
NM_001318051.2:c.350+12326_350+12327insGAC	NP_001304980.1:n.350+12326_350+12327insGAC
NR_134473.2:n.620+107_620+108insGAC
NR_134474.2:n.537+107_537+108insGAC
NR_134475.2:n.572+107_572+108insGAC