Canonical Allele Identifier: CA2651946759

Gene: NDUFAF5

Linked Data

• gnomAD v4: 20-13801807-CTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801809_13801812del , CM000682.2:g.13801809_13801812del	GRCh38
NC_000020.10:g.13782455_13782458del , CM000682.1:g.13782455_13782458del	GRCh37
NC_000020.9:g.13730455_13730458del	NCBI36
NG_015811.1:g.21784_21787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717+126_717+129del MANE Select	ENSP00000367346.5:n.717+126_717+129del
ENST00000378081.9:c.717+126_717+129del	ENSP00000437325.1:n.717+126_717+129del
ENST00000378106.9:c.717+126_717+129del	ENSP00000367346.5:n.717+126_717+129del
ENST00000463598.1:c.633+126_633+129del	ENSP00000420497.1:n.633+126_633+129del
ENST00000464269.5:n.390+126_390+129del
ENST00000475968.5:n.594+126_594+129del
ENST00000476124.1:n.117-9_117-6del
ENST00000476536.5:n.677+126_677+129del
ENST00000477732.5:n.502+3309_502+3312del
ENST00000479716.5:n.238+126_238+129del
ENST00000481249.5:n.594+126_594+129del
ENST00000485738.5:n.694+126_694+129del
ENST00000487478.5:n.142-9_142-6del
NM_001039375.2:c.633+126_633+129del	NP_001034464.1:n.633+126_633+129del
NM_024120.4:c.717+126_717+129del	NP_077025.2:n.717+126_717+129del
NR_029377.1:n.760+126_760+129del
XM_006723620.2:c.718-9_718-6del	XP_006723683.1:n.718-9_718-6del
XM_006723622.2:c.246+126_246+129del	XP_006723685.1:n.246+126_246+129del
XM_006723623.1:c.246+126_246+129del	XP_006723686.1:n.246+126_246+129del
XM_006723624.1:c.246+126_246+129del	XP_006723687.1:n.246+126_246+129del
XM_011529341.1:c.717+126_717+129del	XP_011527643.1:n.717+126_717+129del
XM_011529342.1:c.717+126_717+129del	XP_011527644.1:n.717+126_717+129del
XM_011529343.1:c.717+126_717+129del	XP_011527645.1:n.717+126_717+129del
XM_011529344.1:c.348+126_348+129del	XP_011527646.1:n.348+126_348+129del
XR_430269.2:n.738-9_738-6del
XR_937140.1:n.737+126_737+129del
NM_001352403.1:c.246+126_246+129del	NP_001339332.1:n.246+126_246+129del
NM_001352406.1:c.156+126_156+129del	NP_001339335.1:n.156+126_156+129del
NM_001352407.1:c.156+126_156+129del	NP_001339336.1:n.156+126_156+129del
NM_001352408.1:c.718-9_718-6del	NP_001339337.1:n.718-9_718-6del
NR_147978.1:n.761-9_761-6del
NR_147979.1:n.780+126_780+129del
NR_147980.1:n.656+126_656+129del
NR_147981.1:n.894+126_894+129del
NR_147982.1:n.895-9_895-6del
NR_147983.1:n.810+126_810+129del
XM_006723624.2:c.246+126_246+129del	XP_006723687.1:n.246+126_246+129del
XM_011529342.2:c.717+126_717+129del	XP_011527644.1:n.717+126_717+129del
XM_024451999.1:c.246+126_246+129del	XP_024307767.1:n.246+126_246+129del
XR_001754396.1:n.676+126_676+129del
XR_430269.3:n.738-9_738-6del
XR_937140.2:n.737+126_737+129del
NM_024120.5:c.717+126_717+129del MANE Select	NP_077025.2:n.717+126_717+129del
NM_001039375.3:c.633+126_633+129del	NP_001034464.1:n.633+126_633+129del
NM_001352403.2:c.246+126_246+129del	NP_001339332.1:n.246+126_246+129del
NM_001352406.2:c.156+126_156+129del	NP_001339335.1:n.156+126_156+129del
NM_001352407.2:c.156+126_156+129del	NP_001339336.1:n.156+126_156+129del
NR_029377.2:n.758+126_758+129del
NR_147978.2:n.759-9_759-6del
NR_147979.2:n.778+126_778+129del
NR_147980.2:n.654+126_654+129del
NR_147981.2:n.892+126_892+129del
NR_147982.2:n.893-9_893-6del
NR_147983.2:n.808+126_808+129del
NM_001352408.2:c.718-9_718-6del	NP_001339337.1:n.718-9_718-6del