Canonical Allele Identifier: CA2695201384

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 2676970
• ClinVar RCV Id: RCV003471380 ; RCV003565678

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801518dup , CM000682.2:g.13801518dup	GRCh38
NC_000020.10:g.13782164dup , CM000682.1:g.13782164dup	GRCh37
NC_000020.9:g.13730164dup	NCBI36
NG_015811.1:g.21493dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.552dup MANE Select	ENSP00000367346.5:p.Ile185TyrfsTer12
ENST00000378081.9:c.552dup	ENSP00000437325.1:p.Ile185TyrfsTer12
ENST00000378106.9:c.552dup	ENSP00000367346.5:p.Ile185TyrfsTer12
ENST00000463598.1:c.468dup	ENSP00000420497.1:p.Ile157TyrfsTer12
ENST00000464269.5:n.225dup
ENST00000475968.5:n.429dup
ENST00000476536.5:n.512dup
ENST00000477732.5:n.502+3018dup
ENST00000479716.5:n.73dup
ENST00000481249.5:n.429dup
ENST00000485738.5:n.529dup
NM_001039375.2:c.468dup	NP_001034464.1:p.Ile157TyrfsTer12
NM_024120.4:c.552dup	NP_077025.2:p.Ile185TyrfsTer12
NR_029377.1:n.595dup
XM_006723620.2:c.552dup	XP_006723683.1:p.Ile185TyrfsTer12
XM_006723622.2:c.81dup	XP_006723685.1:p.Ile28TyrfsTer12
XM_006723623.1:c.81dup	XP_006723686.1:p.Ile28TyrfsTer12
XM_006723624.1:c.81dup	XP_006723687.1:p.Ile28TyrfsTer12
XM_011529341.1:c.552dup	XP_011527643.1:p.Ile185TyrfsTer12
XM_011529342.1:c.552dup	XP_011527644.1:p.Ile185TyrfsTer12
XM_011529343.1:c.552dup	XP_011527645.1:p.Ile185TyrfsTer12
XM_011529344.1:c.183dup	XP_011527646.1:p.Ile62TyrfsTer12
XR_430269.2:n.572dup
XR_937140.1:n.572dup
NM_001352403.1:c.81dup	NP_001339332.1:p.Ile28TyrfsTer12
NM_001352406.1:c.-10dup	NP_001339335.1:n.-10dup
NM_001352407.1:c.-10dup	NP_001339336.1:n.-10dup
NM_001352408.1:c.552dup	NP_001339337.1:p.Ile185TyrfsTer12
NR_147978.1:n.595dup
NR_147979.1:n.615dup
NR_147980.1:n.491dup
NR_147981.1:n.729dup
NR_147982.1:n.729dup
NR_147983.1:n.645dup
XM_006723624.2:c.81dup	XP_006723687.1:p.Ile28TyrfsTer12
XM_011529342.2:c.552dup	XP_011527644.1:p.Ile185TyrfsTer12
XM_024451999.1:c.81dup	XP_024307767.1:p.Ile28TyrfsTer12
XR_001754396.1:n.511dup
XR_430269.3:n.572dup
XR_937140.2:n.572dup
NM_024120.5:c.552dup MANE Select	NP_077025.2:p.Ile185TyrfsTer12
NM_001039375.3:c.468dup	NP_001034464.1:p.Ile157TyrfsTer12
NM_001352403.2:c.81dup	NP_001339332.1:p.Ile28TyrfsTer12
NM_001352406.2:c.-10dup	NP_001339335.1:n.-10dup
NM_001352407.2:c.-10dup	NP_001339336.1:n.-10dup
NR_029377.2:n.593dup
NR_147978.2:n.593dup
NR_147979.2:n.613dup
NR_147980.2:n.489dup
NR_147981.2:n.727dup
NR_147982.2:n.727dup
NR_147983.2:n.643dup
NM_001352408.2:c.552dup	NP_001339337.1:p.Ile185TyrfsTer12