Canonical Allele Identifier: CA1546666391
Gene: NDUFS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658784_53658797delinsCAAAAAAAAAAAAA , CM000667.2:g.53658784_53658797delinsCAAAAAAAAAAAAA GRCh38
NC_000005.9:g.52954614_52954627delinsCAAAAAAAAAAAAA , CM000667.1:g.52954614_52954627delinsCAAAAAAAAAAAAA GRCh37
NC_000005.8:g.52990371_52990384delinsCAAAAAAAAAAAAA NCBI36
NG_008200.1:g.103150_103163delinsCAAAAAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.424+160_424+173delinsCAAAAAAAAAAAAA MANE Select ENSP00000296684.5:n.424+160_424+173delinsCAAAAAAAAAAAAA
ENST00000296684.9:c.424+160_424+173delinsCAAAAAAAAAAAAA ENSP00000296684.5:n.424+160_424+173delinsCAAAAAAAAAAAAA
ENST00000502423.5:c.*291+160_*291+173delinsCAAAAAAAAAAAAA ENSP00000422177.1:n.*291+160_*291+173delinsCAAAAAAAAAAAAA
ENST00000506765.1:c.338+12379_338+12392delinsCAAAAAAAAAAAAA ENSP00000424570.1:n.338+12379_338+12392delinsCAAAAAAAAAAAAA
ENST00000506974.5:c.*200+160_*200+173delinsCAAAAAAAAAAAAA ENSP00000425967.1:n.*200+160_*200+173delinsCAAAAAAAAAAAAA
ENST00000507026.5:c.*398+160_*398+173delinsCAAAAAAAAAAAAA ENSP00000424993.1:n.*398+160_*398+173delinsCAAAAAAAAAAAAA
NM_002495.2:c.424+160_424+173delinsCAAAAAAAAAAAAA NP_002486.1:n.424+160_424+173delinsCAAAAAAAAAAAAA
XM_005248525.3:c.350+12379_350+12392delinsCAAAAAAAAAAAAA XP_005248582.1:n.350+12379_350+12392delinsCAAAAAAAAAAAAA
XM_011543415.1:c.250+160_250+173delinsCAAAAAAAAAAAAA XP_011541717.1:n.250+160_250+173delinsCAAAAAAAAAAAAA
NM_001318051.1:c.350+12379_350+12392delinsCAAAAAAAAAAAAA NP_001304980.1:n.350+12379_350+12392delinsCAAAAAAAAAAAAA
NM_002495.3:c.424+160_424+173delinsCAAAAAAAAAAAAA NP_002486.1:n.424+160_424+173delinsCAAAAAAAAAAAAA
NR_134473.1:n.626+160_626+173delinsCAAAAAAAAAAAAA
NR_134474.1:n.543+160_543+173delinsCAAAAAAAAAAAAA
NR_134475.1:n.578+160_578+173delinsCAAAAAAAAAAAAA
NM_002495.4:c.424+160_424+173delinsCAAAAAAAAAAAAA MANE Select NP_002486.1:n.424+160_424+173delinsCAAAAAAAAAAAAA
NM_001318051.2:c.350+12379_350+12392delinsCAAAAAAAAAAAAA NP_001304980.1:n.350+12379_350+12392delinsCAAAAAAAAAAAAA
NR_134473.2:n.620+160_620+173delinsCAAAAAAAAAAAAA
NR_134474.2:n.537+160_537+173delinsCAAAAAAAAAAAAA
NR_134475.2:n.572+160_572+173delinsCAAAAAAAAAAAAA