Canonical Allele Identifier: CA2673829444

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658718-ATCCAGTGGTTTCATTGTATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658719_53658739del , CM000667.2:g.53658719_53658739del	GRCh38
NC_000005.9:g.52954549_52954569del , CM000667.1:g.52954549_52954569del	GRCh37
NC_000005.8:g.52990306_52990326del	NCBI36
NG_008200.1:g.103085_103105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+95_424+115del MANE Select	ENSP00000296684.5:n.424+95_424+115del
ENST00000296684.9:c.424+95_424+115del	ENSP00000296684.5:n.424+95_424+115del
ENST00000502423.5:c.*291+95_*291+115del	ENSP00000422177.1:n.*291+95_*291+115del
ENST00000506765.1:c.338+12314_338+12334del	ENSP00000424570.1:n.338+12314_338+12334del
ENST00000506974.5:c.*200+95_*200+115del	ENSP00000425967.1:n.*200+95_*200+115del
ENST00000507026.5:c.*398+95_*398+115del	ENSP00000424993.1:n.*398+95_*398+115del
ENST00000509443.1:n.380_400del
NM_002495.2:c.424+95_424+115del	NP_002486.1:n.424+95_424+115del
XM_005248525.3:c.350+12314_350+12334del	XP_005248582.1:n.350+12314_350+12334del
XM_011543415.1:c.250+95_250+115del	XP_011541717.1:n.250+95_250+115del
NM_001318051.1:c.350+12314_350+12334del	NP_001304980.1:n.350+12314_350+12334del
NM_002495.3:c.424+95_424+115del	NP_002486.1:n.424+95_424+115del
NR_134473.1:n.626+95_626+115del
NR_134474.1:n.543+95_543+115del
NR_134475.1:n.578+95_578+115del
NM_002495.4:c.424+95_424+115del MANE Select	NP_002486.1:n.424+95_424+115del
NM_001318051.2:c.350+12314_350+12334del	NP_001304980.1:n.350+12314_350+12334del
NR_134473.2:n.620+95_620+115del
NR_134474.2:n.537+95_537+115del
NR_134475.2:n.572+95_572+115del