Canonical Allele Identifier: CA2673829537

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658791-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658792_53658793insGA , CM000667.2:g.53658792_53658793insGA	GRCh38
NC_000005.9:g.52954622_52954623insGA , CM000667.1:g.52954622_52954623insGA	GRCh37
NC_000005.8:g.52990379_52990380insGA	NCBI36
NG_008200.1:g.103158_103159insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+168_424+169insGA MANE Select	ENSP00000296684.5:n.424+168_424+169insGA
ENST00000296684.9:c.424+168_424+169insGA	ENSP00000296684.5:n.424+168_424+169insGA
ENST00000502423.5:c.*291+168_*291+169insGA	ENSP00000422177.1:n.*291+168_*291+169insGA
ENST00000506765.1:c.338+12387_338+12388insGA	ENSP00000424570.1:n.338+12387_338+12388insGA
ENST00000506974.5:c.*200+168_*200+169insGA	ENSP00000425967.1:n.*200+168_*200+169insGA
ENST00000507026.5:c.*398+168_*398+169insGA	ENSP00000424993.1:n.*398+168_*398+169insGA
NM_002495.2:c.424+168_424+169insGA	NP_002486.1:n.424+168_424+169insGA
XM_005248525.3:c.350+12387_350+12388insGA	XP_005248582.1:n.350+12387_350+12388insGA
XM_011543415.1:c.250+168_250+169insGA	XP_011541717.1:n.250+168_250+169insGA
NM_001318051.1:c.350+12387_350+12388insGA	NP_001304980.1:n.350+12387_350+12388insGA
NM_002495.3:c.424+168_424+169insGA	NP_002486.1:n.424+168_424+169insGA
NR_134473.1:n.626+168_626+169insGA
NR_134474.1:n.543+168_543+169insGA
NR_134475.1:n.578+168_578+169insGA
NM_002495.4:c.424+168_424+169insGA MANE Select	NP_002486.1:n.424+168_424+169insGA
NM_001318051.2:c.350+12387_350+12388insGA	NP_001304980.1:n.350+12387_350+12388insGA
NR_134473.2:n.620+168_620+169insGA
NR_134474.2:n.537+168_537+169insGA
NR_134475.2:n.572+168_572+169insGA