Canonical Allele Identifier: CA2580097890

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 2431719
• ClinVar RCV Id: RCV003142356

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801645del , CM000682.2:g.13801645del	GRCh38
NC_000020.10:g.13782291del , CM000682.1:g.13782291del	GRCh37
NC_000020.9:g.13730291del	NCBI36
NG_015811.1:g.21620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.679del MANE Select	ENSP00000367346.5:p.His227IlefsTer11
ENST00000378081.9:c.679del	ENSP00000437325.1:p.His227IlefsTer11
ENST00000378106.9:c.679del	ENSP00000367346.5:p.His227IlefsTer11
ENST00000463598.1:c.595del	ENSP00000420497.1:p.His199IlefsTer11
ENST00000464269.5:n.352del
ENST00000475968.5:n.556del
ENST00000476124.1:n.78del
ENST00000476536.5:n.639del
ENST00000477732.5:n.502+3145del
ENST00000479716.5:n.200del
ENST00000481249.5:n.556del
ENST00000485738.5:n.656del
ENST00000487478.5:n.103del
NM_001039375.2:c.595del	NP_001034464.1:p.His199IlefsTer11
NM_024120.4:c.679del	NP_077025.2:p.His227IlefsTer11
NR_029377.1:n.722del
XM_006723620.2:c.679del	XP_006723683.1:p.His227IlefsTer11
XM_006723622.2:c.208del	XP_006723685.1:p.His70IlefsTer11
XM_006723623.1:c.208del	XP_006723686.1:p.His70IlefsTer11
XM_006723624.1:c.208del	XP_006723687.1:p.His70IlefsTer11
XM_011529341.1:c.679del	XP_011527643.1:p.His227IlefsTer11
XM_011529342.1:c.679del	XP_011527644.1:p.His227IlefsTer11
XM_011529343.1:c.679del	XP_011527645.1:p.His227IlefsTer11
XM_011529344.1:c.310del	XP_011527646.1:p.His104IlefsTer11
XR_430269.2:n.699del
XR_937140.1:n.699del
NM_001352403.1:c.208del	NP_001339332.1:p.His70IlefsTer11
NM_001352406.1:c.118del	NP_001339335.1:p.His40IlefsTer11
NM_001352407.1:c.118del	NP_001339336.1:p.His40IlefsTer11
NM_001352408.1:c.679del	NP_001339337.1:p.His227IlefsTer11
NR_147978.1:n.722del
NR_147979.1:n.742del
NR_147980.1:n.618del
NR_147981.1:n.856del
NR_147982.1:n.856del
NR_147983.1:n.772del
XM_006723624.2:c.208del	XP_006723687.1:p.His70IlefsTer11
XM_011529342.2:c.679del	XP_011527644.1:p.His227IlefsTer11
XM_024451999.1:c.208del	XP_024307767.1:p.His70IlefsTer11
XR_001754396.1:n.638del
XR_430269.3:n.699del
XR_937140.2:n.699del
NM_024120.5:c.679del MANE Select	NP_077025.2:p.His227IlefsTer11
NM_001039375.3:c.595del	NP_001034464.1:p.His199IlefsTer11
NM_001352403.2:c.208del	NP_001339332.1:p.His70IlefsTer11
NM_001352406.2:c.118del	NP_001339335.1:p.His40IlefsTer11
NM_001352407.2:c.118del	NP_001339336.1:p.His40IlefsTer11
NR_029377.2:n.720del
NR_147978.2:n.720del
NR_147979.2:n.740del
NR_147980.2:n.616del
NR_147981.2:n.854del
NR_147982.2:n.854del
NR_147983.2:n.770del
NM_001352408.2:c.679del	NP_001339337.1:p.His227IlefsTer11