Canonical Allele Identifier: CA9767606
Community Standard Title: NM_024120.5(NDUFAF5):c.204del (p.Phe68LeufsTer4)
Gene: NDUFAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13785272del , CM000682.2:g.13785272del GRCh38
NC_000020.10:g.13765918del , CM000682.1:g.13765918del GRCh37
NC_000020.9:g.13713918del NCBI36
NG_015811.1:g.5247del

Transcript Alleles

HGVS Amino-acid Change
NM_024120.5:c.204del MANE Select NP_077025.2:p.Phe68LeufsTer4
ENST00000378106.10:c.204del MANE Select ENSP00000367346.5:p.Phe68LeufsTer4
NM_001039375.2:c.204del NP_001034464.1:p.Phe68LeufsTer4
NM_001039375.3:c.204del NP_001034464.1:p.Phe68LeufsTer4
NM_001352403.1:c.-164del NP_001339332.1:n.-164del
NM_001352403.2:c.-164del NP_001339332.1:n.-164del
NM_001352406.1:c.-378del NP_001339335.1:n.-378del
NM_001352406.2:c.-378del NP_001339335.1:n.-378del
NM_001352407.1:c.-492del NP_001339336.1:n.-492del
NM_001352407.2:c.-492del NP_001339336.1:n.-492del
NM_001352408.1:c.204del NP_001339337.1:p.Phe68LeufsTer4
NM_001352408.2:c.204del NP_001339337.1:p.Phe68LeufsTer4
NM_024120.4:c.204del NP_077025.2:p.Phe68LeufsTer4
NR_029377.1:n.247del
NR_029377.2:n.245del
NR_147978.1:n.247del
NR_147978.2:n.245del
NR_147979.1:n.247del
NR_147979.2:n.245del
NR_147980.1:n.247del
NR_147980.2:n.245del
NR_147981.1:n.247del
NR_147981.2:n.245del
NR_147982.1:n.247del
NR_147982.2:n.245del
NR_147983.1:n.247del
NR_147983.2:n.245del
ENST00000378081.9:c.204del ENSP00000437325.1:p.Phe68LeufsTer4
ENST00000378106.9:c.204del ENSP00000367346.5:p.Phe68LeufsTer4
ENST00000463598.1:c.204del ENSP00000420497.1:p.Phe68LeufsTer4
ENST00000475968.5:n.185del
ENST00000477732.5:n.187del
ENST00000481249.5:n.185del
ENST00000485738.5:n.203del
XM_006723620.2:c.204del XP_006723683.1:p.Phe68LeufsTer4
XM_006723622.2:c.-164del XP_006723685.1:n.-164del
XM_006723623.1:c.-318del XP_006723686.1:n.-318del
XM_006723624.1:c.-298del XP_006723687.1:n.-298del
XM_006723624.2:c.-298del XP_006723687.1:n.-298del
XM_011529341.1:c.204del XP_011527643.1:p.Phe68LeufsTer4
XM_011529342.1:c.204del XP_011527644.1:p.Phe68LeufsTer4
XM_011529342.2:c.204del XP_011527644.1:p.Phe68LeufsTer4
XM_011529343.1:c.204del XP_011527645.1:p.Phe68LeufsTer4
XR_001754396.1:n.247del
XR_430269.2:n.224del
XR_430269.3:n.224del
XR_937140.1:n.224del
XR_937140.2:n.224del