Canonical Allele Identifier: CA1546666232
Gene: NDUFS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53658473_53658474delinsCT , CM000667.2:g.53658473_53658474delinsCT GRCh38
NC_000005.9:g.52954303_52954304delinsCT , CM000667.1:g.52954303_52954304delinsCT GRCh37
NC_000005.8:g.52990060_52990061delinsCT NCBI36
NG_008200.1:g.102839_102840delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296684.10:c.351-78_351-77delinsCT MANE Select ENSP00000296684.5:n.351-78_351-77delinsCT
ENST00000296684.9:c.351-78_351-77delinsCT ENSP00000296684.5:n.351-78_351-77delinsCT
ENST00000502423.5:c.*218-78_*218-77delinsCT ENSP00000422177.1:n.*218-78_*218-77delinsCT
ENST00000506765.1:c.338+12068_338+12069delinsCT ENSP00000424570.1:n.338+12068_338+12069delinsCT
ENST00000506974.5:c.*127-78_*127-77delinsCT ENSP00000425967.1:n.*127-78_*127-77delinsCT
ENST00000507026.5:c.*325-78_*325-77delinsCT ENSP00000424993.1:n.*325-78_*325-77delinsCT
ENST00000509443.1:n.212-78_212-77delinsCT
NM_002495.2:c.351-78_351-77delinsCT NP_002486.1:n.351-78_351-77delinsCT
XM_005248525.3:c.350+12068_350+12069delinsCT XP_005248582.1:n.350+12068_350+12069delinsCT
XM_011543415.1:c.177-78_177-77delinsCT XP_011541717.1:n.177-78_177-77delinsCT
NM_001318051.1:c.350+12068_350+12069delinsCT NP_001304980.1:n.350+12068_350+12069delinsCT
NM_002495.3:c.351-78_351-77delinsCT NP_002486.1:n.351-78_351-77delinsCT
NR_134473.1:n.553-78_553-77delinsCT
NR_134474.1:n.470-78_470-77delinsCT
NR_134475.1:n.505-78_505-77delinsCT
NM_002495.4:c.351-78_351-77delinsCT MANE Select NP_002486.1:n.351-78_351-77delinsCT
NM_001318051.2:c.350+12068_350+12069delinsCT NP_001304980.1:n.350+12068_350+12069delinsCT
NR_134473.2:n.547-78_547-77delinsCT
NR_134474.2:n.464-78_464-77delinsCT
NR_134475.2:n.499-78_499-77delinsCT