Canonical Allele Identifier: CA2673829539

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658791-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658791_53658792insG , CM000667.2:g.53658791_53658792insG	GRCh38
NC_000005.9:g.52954621_52954622insG , CM000667.1:g.52954621_52954622insG	GRCh37
NC_000005.8:g.52990378_52990379insG	NCBI36
NG_008200.1:g.103157_103158insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+167_424+168insG MANE Select	ENSP00000296684.5:n.424+167_424+168insG
ENST00000296684.9:c.424+167_424+168insG	ENSP00000296684.5:n.424+167_424+168insG
ENST00000502423.5:c.*291+167_*291+168insG	ENSP00000422177.1:n.*291+167_*291+168insG
ENST00000506765.1:c.338+12386_338+12387insG	ENSP00000424570.1:n.338+12386_338+12387insG
ENST00000506974.5:c.*200+167_*200+168insG	ENSP00000425967.1:n.*200+167_*200+168insG
ENST00000507026.5:c.*398+167_*398+168insG	ENSP00000424993.1:n.*398+167_*398+168insG
NM_002495.2:c.424+167_424+168insG	NP_002486.1:n.424+167_424+168insG
XM_005248525.3:c.350+12386_350+12387insG	XP_005248582.1:n.350+12386_350+12387insG
XM_011543415.1:c.250+167_250+168insG	XP_011541717.1:n.250+167_250+168insG
NM_001318051.1:c.350+12386_350+12387insG	NP_001304980.1:n.350+12386_350+12387insG
NM_002495.3:c.424+167_424+168insG	NP_002486.1:n.424+167_424+168insG
NR_134473.1:n.626+167_626+168insG
NR_134474.1:n.543+167_543+168insG
NR_134475.1:n.578+167_578+168insG
NM_002495.4:c.424+167_424+168insG MANE Select	NP_002486.1:n.424+167_424+168insG
NM_001318051.2:c.350+12386_350+12387insG	NP_001304980.1:n.350+12386_350+12387insG
NR_134473.2:n.620+167_620+168insG
NR_134474.2:n.537+167_537+168insG
NR_134475.2:n.572+167_572+168insG