Canonical Allele Identifier: CA2613426596
Gene: NDUFS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47582268_47582269del , CM000673.2:g.47582268_47582269del GRCh38
NC_000011.9:g.47603820_47603821del , CM000673.1:g.47603820_47603821del GRCh37
NC_000011.8:g.47560396_47560397del NCBI36
NG_011946.1:g.8259_8260del
NG_011946.2:g.8259_8260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263774.9:c.507+55_507+56del MANE Select ENSP00000263774.4:n.507+55_507+56del
ENST00000531351.2:n.1622_1623del
ENST00000677462.1:n.2981+55_2981+56del
ENST00000678975.1:n.2764+55_2764+56del
ENST00000263774.8:c.507+55_507+56del ENSP00000263774.4:n.507+55_507+56del
ENST00000524568.1:n.610+55_610+56del
ENST00000525212.1:n.162+55_162+56del
ENST00000525378.5:n.445+55_445+56del
ENST00000527178.1:n.27_28del
ENST00000533507.5:n.1401+55_1401+56del
NM_004551.2:c.507+55_507+56del NP_004542.1:n.507+55_507+56del
NM_004551.3:c.507+55_507+56del MANE Select NP_004542.1:n.507+55_507+56del