Canonical Allele Identifier: CA2695229373
Gene: NDUFAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13801571dup , CM000682.2:g.13801571dup GRCh38
NC_000020.10:g.13782217dup , CM000682.1:g.13782217dup GRCh37
NC_000020.9:g.13730217dup NCBI36
NG_015811.1:g.21546dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378106.10:c.605dup MANE Select ENSP00000367346.5:p.Leu203ValfsTer22
ENST00000378081.9:c.605dup ENSP00000437325.1:p.Leu203ValfsTer22
ENST00000378106.9:c.605dup ENSP00000367346.5:p.Leu203ValfsTer22
ENST00000463598.1:c.521dup ENSP00000420497.1:p.Leu175ValfsTer22
ENST00000464269.5:n.278dup
ENST00000475968.5:n.482dup
ENST00000476124.1:n.4dup
ENST00000476536.5:n.565dup
ENST00000477732.5:n.502+3071dup
ENST00000479716.5:n.126dup
ENST00000481249.5:n.482dup
ENST00000485738.5:n.582dup
ENST00000487478.5:n.29dup
NM_001039375.2:c.521dup NP_001034464.1:p.Leu175ValfsTer22
NM_024120.4:c.605dup NP_077025.2:p.Leu203ValfsTer22
NR_029377.1:n.648dup
XM_006723620.2:c.605dup XP_006723683.1:p.Leu203ValfsTer22
XM_006723622.2:c.134dup XP_006723685.1:p.Leu46ValfsTer22
XM_006723623.1:c.134dup XP_006723686.1:p.Leu46ValfsTer22
XM_006723624.1:c.134dup XP_006723687.1:p.Leu46ValfsTer22
XM_011529341.1:c.605dup XP_011527643.1:p.Leu203ValfsTer22
XM_011529342.1:c.605dup XP_011527644.1:p.Leu203ValfsTer22
XM_011529343.1:c.605dup XP_011527645.1:p.Leu203ValfsTer22
XM_011529344.1:c.236dup XP_011527646.1:p.Leu80ValfsTer22
XR_430269.2:n.625dup
XR_937140.1:n.625dup
NM_001352403.1:c.134dup NP_001339332.1:p.Leu46ValfsTer22
NM_001352406.1:c.44dup NP_001339335.1:p.Leu16ValfsTer22
NM_001352407.1:c.44dup NP_001339336.1:p.Leu16ValfsTer22
NM_001352408.1:c.605dup NP_001339337.1:p.Leu203ValfsTer22
NR_147978.1:n.648dup
NR_147979.1:n.668dup
NR_147980.1:n.544dup
NR_147981.1:n.782dup
NR_147982.1:n.782dup
NR_147983.1:n.698dup
XM_006723624.2:c.134dup XP_006723687.1:p.Leu46ValfsTer22
XM_011529342.2:c.605dup XP_011527644.1:p.Leu203ValfsTer22
XM_024451999.1:c.134dup XP_024307767.1:p.Leu46ValfsTer22
XR_001754396.1:n.564dup
XR_430269.3:n.625dup
XR_937140.2:n.625dup
NM_024120.5:c.605dup MANE Select NP_077025.2:p.Leu203ValfsTer22
NM_001039375.3:c.521dup NP_001034464.1:p.Leu175ValfsTer22
NM_001352403.2:c.134dup NP_001339332.1:p.Leu46ValfsTer22
NM_001352406.2:c.44dup NP_001339335.1:p.Leu16ValfsTer22
NM_001352407.2:c.44dup NP_001339336.1:p.Leu16ValfsTer22
NR_029377.2:n.646dup
NR_147978.2:n.646dup
NR_147979.2:n.666dup
NR_147980.2:n.542dup
NR_147981.2:n.780dup
NR_147982.2:n.780dup
NR_147983.2:n.696dup
NM_001352408.2:c.605dup NP_001339337.1:p.Leu203ValfsTer22