Canonical Allele Identifier: CA2766484940
Gene: NDUFS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658765_53658766insAAAAAAAAAAA , CM000667.2:g.53658765_53658766insAAAAAAAAAAA GRCh38
NC_000005.9:g.52954595_52954596insAAAAAAAAAAA , CM000667.1:g.52954595_52954596insAAAAAAAAAAA GRCh37
NC_000005.8:g.52990352_52990353insAAAAAAAAAAA NCBI36
NG_008200.1:g.103131_103132insAAAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.424+141_424+142insAAAAAAAAAAA MANE Select ENSP00000296684.5:n.424+141_424+142insAAAAAAAAAAA
ENST00000296684.9:c.424+141_424+142insAAAAAAAAAAA ENSP00000296684.5:n.424+141_424+142insAAAAAAAAAAA
ENST00000502423.5:c.*291+141_*291+142insAAAAAAAAAAA ENSP00000422177.1:n.*291+141_*291+142insAAAAAAAAAAA
ENST00000506765.1:c.338+12360_338+12361insAAAAAAAAAAA ENSP00000424570.1:n.338+12360_338+12361insAAAAAAAAAAA
ENST00000506974.5:c.*200+141_*200+142insAAAAAAAAAAA ENSP00000425967.1:n.*200+141_*200+142insAAAAAAAAAAA
ENST00000507026.5:c.*398+141_*398+142insAAAAAAAAAAA ENSP00000424993.1:n.*398+141_*398+142insAAAAAAAAAAA
ENST00000509443.1:n.426_427insAAAAAAAAAAA
NM_002495.2:c.424+141_424+142insAAAAAAAAAAA NP_002486.1:n.424+141_424+142insAAAAAAAAAAA
XM_005248525.3:c.350+12360_350+12361insAAAAAAAAAAA XP_005248582.1:n.350+12360_350+12361insAAAAAAAAAAA
XM_011543415.1:c.250+141_250+142insAAAAAAAAAAA XP_011541717.1:n.250+141_250+142insAAAAAAAAAAA
NM_001318051.1:c.350+12360_350+12361insAAAAAAAAAAA NP_001304980.1:n.350+12360_350+12361insAAAAAAAAAAA
NM_002495.3:c.424+141_424+142insAAAAAAAAAAA NP_002486.1:n.424+141_424+142insAAAAAAAAAAA
NR_134473.1:n.626+141_626+142insAAAAAAAAAAA
NR_134474.1:n.543+141_543+142insAAAAAAAAAAA
NR_134475.1:n.578+141_578+142insAAAAAAAAAAA
NM_002495.4:c.424+141_424+142insAAAAAAAAAAA MANE Select NP_002486.1:n.424+141_424+142insAAAAAAAAAAA
NM_001318051.2:c.350+12360_350+12361insAAAAAAAAAAA NP_001304980.1:n.350+12360_350+12361insAAAAAAAAAAA
NR_134473.2:n.620+141_620+142insAAAAAAAAAAA
NR_134474.2:n.537+141_537+142insAAAAAAAAAAA
NR_134475.2:n.572+141_572+142insAAAAAAAAAAA