Canonical Allele Identifier: CA2736400288
Gene: NDUFAF5 HGNC NCBI

Linked Data

dbSNP Id: rs2147551877

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13801463_13801464del , CM000682.2:g.13801463_13801464del GRCh38
NC_000020.10:g.13782109_13782110del , CM000682.1:g.13782109_13782110del GRCh37
NC_000020.9:g.13730109_13730110del NCBI36
NG_015811.1:g.21438_21439del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378106.10:c.520-23_520-22del MANE Select ENSP00000367346.5:n.520-23_520-22del
ENST00000378081.9:c.520-23_520-22del ENSP00000437325.1:n.520-23_520-22del
ENST00000378106.9:c.520-23_520-22del ENSP00000367346.5:n.520-23_520-22del
ENST00000463598.1:c.436-23_436-22del ENSP00000420497.1:n.436-23_436-22del
ENST00000464269.5:n.193-23_193-22del
ENST00000475968.5:n.397-23_397-22del
ENST00000476536.5:n.480-23_480-22del
ENST00000477732.5:n.502+2963_502+2964del
ENST00000479716.5:n.41-23_41-22del
ENST00000481249.5:n.397-23_397-22del
ENST00000485738.5:n.519-45_519-44del
NM_001039375.2:c.436-23_436-22del NP_001034464.1:n.436-23_436-22del
NM_024120.4:c.520-23_520-22del NP_077025.2:n.520-23_520-22del
NR_029377.1:n.563-23_563-22del
XM_006723620.2:c.520-23_520-22del XP_006723683.1:n.520-23_520-22del
XM_006723622.2:c.49-23_49-22del XP_006723685.1:n.49-23_49-22del
XM_006723623.1:c.49-23_49-22del XP_006723686.1:n.49-23_49-22del
XM_006723624.1:c.49-23_49-22del XP_006723687.1:n.49-23_49-22del
XM_011529341.1:c.520-23_520-22del XP_011527643.1:n.520-23_520-22del
XM_011529342.1:c.520-23_520-22del XP_011527644.1:n.520-23_520-22del
XM_011529343.1:c.520-23_520-22del XP_011527645.1:n.520-23_520-22del
XM_011529344.1:c.151-23_151-22del XP_011527646.1:n.151-23_151-22del
XR_430269.2:n.540-23_540-22del
XR_937140.1:n.540-23_540-22del
NM_001352403.1:c.49-23_49-22del NP_001339332.1:n.49-23_49-22del
NM_001352406.1:c.-42-23_-42-22del NP_001339335.1:n.-42-23_-42-22del
NM_001352407.1:c.-42-23_-42-22del NP_001339336.1:n.-42-23_-42-22del
NM_001352408.1:c.520-23_520-22del NP_001339337.1:n.520-23_520-22del
NR_147978.1:n.563-23_563-22del
NR_147979.1:n.583-23_583-22del
NR_147980.1:n.459-23_459-22del
NR_147981.1:n.697-23_697-22del
NR_147982.1:n.697-23_697-22del
NR_147983.1:n.613-23_613-22del
XM_006723624.2:c.49-23_49-22del XP_006723687.1:n.49-23_49-22del
XM_011529342.2:c.520-23_520-22del XP_011527644.1:n.520-23_520-22del
XM_024451999.1:c.49-23_49-22del XP_024307767.1:n.49-23_49-22del
XR_001754396.1:n.479-23_479-22del
XR_430269.3:n.540-23_540-22del
XR_937140.2:n.540-23_540-22del
NM_024120.5:c.520-23_520-22del MANE Select NP_077025.2:n.520-23_520-22del
NM_001039375.3:c.436-23_436-22del NP_001034464.1:n.436-23_436-22del
NM_001352403.2:c.49-23_49-22del NP_001339332.1:n.49-23_49-22del
NM_001352406.2:c.-42-23_-42-22del NP_001339335.1:n.-42-23_-42-22del
NM_001352407.2:c.-42-23_-42-22del NP_001339336.1:n.-42-23_-42-22del
NR_029377.2:n.561-23_561-22del
NR_147978.2:n.561-23_561-22del
NR_147979.2:n.581-23_581-22del
NR_147980.2:n.457-23_457-22del
NR_147981.2:n.695-23_695-22del
NR_147982.2:n.695-23_695-22del
NR_147983.2:n.611-23_611-22del
NM_001352408.2:c.520-23_520-22del NP_001339337.1:n.520-23_520-22del