Canonical Allele Identifier: CA2695201386

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 2676986
• ClinVar RCV Id: RCV003471392

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801677dup , CM000682.2:g.13801677dup	GRCh38
NC_000020.10:g.13782323dup , CM000682.1:g.13782323dup	GRCh37
NC_000020.9:g.13730323dup	NCBI36
NG_015811.1:g.21652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.711dup MANE Select	ENSP00000367346.5:p.Thr238AspfsTer5
ENST00000378081.9:c.711dup	ENSP00000437325.1:p.Thr238AspfsTer5
ENST00000378106.9:c.711dup	ENSP00000367346.5:p.Thr238AspfsTer5
ENST00000463598.1:c.627dup	ENSP00000420497.1:p.Thr210AspfsTer5
ENST00000464269.5:n.384dup
ENST00000475968.5:n.588dup
ENST00000476124.1:n.110dup
ENST00000476536.5:n.671dup
ENST00000477732.5:n.502+3177dup
ENST00000479716.5:n.232dup
ENST00000481249.5:n.588dup
ENST00000485738.5:n.688dup
ENST00000487478.5:n.135dup
NM_001039375.2:c.627dup	NP_001034464.1:p.Thr210AspfsTer5
NM_024120.4:c.711dup	NP_077025.2:p.Thr238AspfsTer5
NR_029377.1:n.754dup
XM_006723620.2:c.711dup	XP_006723683.1:p.Thr238AspfsTer8
XM_006723622.2:c.240dup	XP_006723685.1:p.Thr81AspfsTer5
XM_006723623.1:c.240dup	XP_006723686.1:p.Thr81AspfsTer5
XM_006723624.1:c.240dup	XP_006723687.1:p.Thr81AspfsTer5
XM_011529341.1:c.711dup	XP_011527643.1:p.Thr238AspfsTer5
XM_011529342.1:c.711dup	XP_011527644.1:p.Thr238AspfsTer13
XM_011529343.1:c.711dup	XP_011527645.1:p.Thr238AspfsTer5
XM_011529344.1:c.342dup	XP_011527646.1:p.Thr115AspfsTer5
XR_430269.2:n.731dup
XR_937140.1:n.731dup
NM_001352403.1:c.240dup	NP_001339332.1:p.Thr81AspfsTer5
NM_001352406.1:c.150dup	NP_001339335.1:p.Thr51AspfsTer5
NM_001352407.1:c.150dup	NP_001339336.1:p.Thr51AspfsTer5
NM_001352408.1:c.711dup	NP_001339337.1:p.Thr238AspfsTer8
NR_147978.1:n.754dup
NR_147979.1:n.774dup
NR_147980.1:n.650dup
NR_147981.1:n.888dup
NR_147982.1:n.888dup
NR_147983.1:n.804dup
XM_006723624.2:c.240dup	XP_006723687.1:p.Thr81AspfsTer5
XM_011529342.2:c.711dup	XP_011527644.1:p.Thr238AspfsTer13
XM_024451999.1:c.240dup	XP_024307767.1:p.Thr81AspfsTer5
XR_001754396.1:n.670dup
XR_430269.3:n.731dup
XR_937140.2:n.731dup
NM_024120.5:c.711dup MANE Select	NP_077025.2:p.Thr238AspfsTer5
NM_001039375.3:c.627dup	NP_001034464.1:p.Thr210AspfsTer5
NM_001352403.2:c.240dup	NP_001339332.1:p.Thr81AspfsTer5
NM_001352406.2:c.150dup	NP_001339335.1:p.Thr51AspfsTer5
NM_001352407.2:c.150dup	NP_001339336.1:p.Thr51AspfsTer5
NR_029377.2:n.752dup
NR_147978.2:n.752dup
NR_147979.2:n.772dup
NR_147980.2:n.648dup
NR_147981.2:n.886dup
NR_147982.2:n.886dup
NR_147983.2:n.802dup
NM_001352408.2:c.711dup	NP_001339337.1:p.Thr238AspfsTer8