Canonical Allele Identifier: CA9767961
Community Standard Title: NM_024120.5(NDUFAF5):c.1029dup (p.Ser344IlefsTer20)
Gene: NDUFAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13817201dup , CM000682.2:g.13817201dup GRCh38
NC_000020.10:g.13797847dup , CM000682.1:g.13797847dup GRCh37
NC_000020.9:g.13745847dup NCBI36
NG_015811.1:g.37176dup

Transcript Alleles

HGVS Amino-acid Change
NM_024120.5:c.1029dup MANE Select NP_077025.2:p.Ser344IlefsTer20
ENST00000378106.10:c.1029dup MANE Select ENSP00000367346.5:p.Ser344IlefsTer20
NM_001039375.2:c.945dup NP_001034464.1:p.Ser316IlefsTer20
NM_001039375.3:c.945dup NP_001034464.1:p.Ser316IlefsTer20
NM_001352403.1:c.558dup NP_001339332.1:p.Ser187IlefsTer20
NM_001352403.2:c.558dup NP_001339332.1:p.Ser187IlefsTer20
NM_001352406.1:c.468dup NP_001339335.1:p.Ser157IlefsTer20
NM_001352406.2:c.468dup NP_001339335.1:p.Ser157IlefsTer20
NM_001352407.1:c.468dup NP_001339336.1:p.Ser157IlefsTer20
NM_001352407.2:c.468dup NP_001339336.1:p.Ser157IlefsTer20
NM_024120.4:c.1029dup NP_077025.2:p.Ser344IlefsTer20
NR_029377.1:n.1170dup
NR_029377.2:n.1168dup
NR_147978.1:n.1128dup
NR_147978.2:n.1126dup
NR_147979.1:n.1190dup
NR_147979.2:n.1188dup
NR_147980.1:n.1066dup
NR_147980.2:n.1064dup
NR_147981.1:n.1304dup
NR_147981.2:n.1302dup
NR_147982.1:n.1360dup
NR_147982.2:n.1358dup
NR_147983.1:n.1220dup
NR_147983.2:n.1218dup
ENST00000378081.9:c.*323dup ENSP00000437325.1:n.*323dup
ENST00000378106.9:c.1029dup ENSP00000367346.5:p.Ser344IlefsTer20
ENST00000463598.1:c.945dup ENSP00000420497.1:p.Ser316IlefsTer?
ENST00000475968.5:n.906dup
ENST00000476200.5:n.690dup
ENST00000479682.5:n.649dup
ENST00000479716.5:n.466dup
ENST00000486772.1:n.384dup
ENST00000487478.5:n.607dup
XM_006723622.2:c.558dup XP_006723685.1:p.Ser187IlefsTer20
XM_006723623.1:c.558dup XP_006723686.1:p.Ser187IlefsTer20
XM_006723624.1:c.558dup XP_006723687.1:p.Ser187IlefsTer20
XM_006723624.2:c.558dup XP_006723687.1:p.Ser187IlefsTer20
XM_011529341.1:c.945dup XP_011527643.1:p.Ser316IlefsTer20
XM_011529344.1:c.660dup XP_011527646.1:p.Ser221IlefsTer20
XM_024451999.1:c.558dup XP_024307767.1:p.Ser187IlefsTer20
XR_001754396.1:n.1086dup
XR_430269.2:n.1203dup
XR_430269.3:n.1203dup