Canonical Allele Identifier: CA1076121812

Gene: NDUFS4

Linked Data

• gnomAD v3: 5-53658784-C-CAAAAAAAAAA
• gnomAD v4: 5-53658784-C-CAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658795_53658804dup , CM000667.2:g.53658795_53658804dup	GRCh38
NC_000005.9:g.52954625_52954634dup , CM000667.1:g.52954625_52954634dup	GRCh37
NC_000005.8:g.52990382_52990391dup	NCBI36
NG_008200.1:g.103161_103170dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+171_424+180dup MANE Select	ENSP00000296684.5:n.424+171_424+180dup
ENST00000296684.9:c.424+171_424+180dup	ENSP00000296684.5:n.424+171_424+180dup
ENST00000502423.5:c.*291+171_*291+180dup	ENSP00000422177.1:n.*291+171_*291+180dup
ENST00000506765.1:c.338+12390_338+12399dup	ENSP00000424570.1:n.338+12390_338+12399dup
ENST00000506974.5:c.*200+171_*200+180dup	ENSP00000425967.1:n.*200+171_*200+180dup
ENST00000507026.5:c.*398+171_*398+180dup	ENSP00000424993.1:n.*398+171_*398+180dup
NM_002495.2:c.424+171_424+180dup	NP_002486.1:n.424+171_424+180dup
XM_005248525.3:c.350+12390_350+12399dup	XP_005248582.1:n.350+12390_350+12399dup
XM_011543415.1:c.250+171_250+180dup	XP_011541717.1:n.250+171_250+180dup
NM_001318051.1:c.350+12390_350+12399dup	NP_001304980.1:n.350+12390_350+12399dup
NM_002495.3:c.424+171_424+180dup	NP_002486.1:n.424+171_424+180dup
NR_134473.1:n.626+171_626+180dup
NR_134474.1:n.543+171_543+180dup
NR_134475.1:n.578+171_578+180dup
NM_002495.4:c.424+171_424+180dup MANE Select	NP_002486.1:n.424+171_424+180dup
NM_001318051.2:c.350+12390_350+12399dup	NP_001304980.1:n.350+12390_350+12399dup
NR_134473.2:n.620+171_620+180dup
NR_134474.2:n.537+171_537+180dup
NR_134475.2:n.572+171_572+180dup