Canonical Allele Identifier: CA1015593319

Gene: NDUFAF5

Linked Data

• gnomAD v3: 20-13801763-A-AC
• gnomAD v4: 20-13801763-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801763_13801764insC , CM000682.2:g.13801763_13801764insC	GRCh38
NC_000020.10:g.13782409_13782410insC , CM000682.1:g.13782409_13782410insC	GRCh37
NC_000020.9:g.13730409_13730410insC	NCBI36
NG_015811.1:g.21738_21739insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717+80_717+81insC MANE Select	ENSP00000367346.5:n.717+80_717+81insC
ENST00000378081.9:c.717+80_717+81insC	ENSP00000437325.1:n.717+80_717+81insC
ENST00000378106.9:c.717+80_717+81insC	ENSP00000367346.5:n.717+80_717+81insC
ENST00000463598.1:c.633+80_633+81insC	ENSP00000420497.1:n.633+80_633+81insC
ENST00000464269.5:n.390+80_390+81insC
ENST00000475968.5:n.594+80_594+81insC
ENST00000476124.1:n.117-55_117-54insC
ENST00000476536.5:n.677+80_677+81insC
ENST00000477732.5:n.502+3263_502+3264insC
ENST00000479716.5:n.238+80_238+81insC
ENST00000481249.5:n.594+80_594+81insC
ENST00000485738.5:n.694+80_694+81insC
ENST00000487478.5:n.142-55_142-54insC
NM_001039375.2:c.633+80_633+81insC	NP_001034464.1:n.633+80_633+81insC
NM_024120.4:c.717+80_717+81insC	NP_077025.2:n.717+80_717+81insC
NR_029377.1:n.760+80_760+81insC
XM_006723620.2:c.718-55_718-54insC	XP_006723683.1:n.718-55_718-54insC
XM_006723622.2:c.246+80_246+81insC	XP_006723685.1:n.246+80_246+81insC
XM_006723623.1:c.246+80_246+81insC	XP_006723686.1:n.246+80_246+81insC
XM_006723624.1:c.246+80_246+81insC	XP_006723687.1:n.246+80_246+81insC
XM_011529341.1:c.717+80_717+81insC	XP_011527643.1:n.717+80_717+81insC
XM_011529342.1:c.717+80_717+81insC	XP_011527644.1:n.717+80_717+81insC
XM_011529343.1:c.717+80_717+81insC	XP_011527645.1:n.717+80_717+81insC
XM_011529344.1:c.348+80_348+81insC	XP_011527646.1:n.348+80_348+81insC
XR_430269.2:n.738-55_738-54insC
XR_937140.1:n.737+80_737+81insC
NM_001352403.1:c.246+80_246+81insC	NP_001339332.1:n.246+80_246+81insC
NM_001352406.1:c.156+80_156+81insC	NP_001339335.1:n.156+80_156+81insC
NM_001352407.1:c.156+80_156+81insC	NP_001339336.1:n.156+80_156+81insC
NM_001352408.1:c.718-55_718-54insC	NP_001339337.1:n.718-55_718-54insC
NR_147978.1:n.761-55_761-54insC
NR_147979.1:n.780+80_780+81insC
NR_147980.1:n.656+80_656+81insC
NR_147981.1:n.894+80_894+81insC
NR_147982.1:n.895-55_895-54insC
NR_147983.1:n.810+80_810+81insC
XM_006723624.2:c.246+80_246+81insC	XP_006723687.1:n.246+80_246+81insC
XM_011529342.2:c.717+80_717+81insC	XP_011527644.1:n.717+80_717+81insC
XM_024451999.1:c.246+80_246+81insC	XP_024307767.1:n.246+80_246+81insC
XR_001754396.1:n.676+80_676+81insC
XR_430269.3:n.738-55_738-54insC
XR_937140.2:n.737+80_737+81insC
NM_024120.5:c.717+80_717+81insC MANE Select	NP_077025.2:n.717+80_717+81insC
NM_001039375.3:c.633+80_633+81insC	NP_001034464.1:n.633+80_633+81insC
NM_001352403.2:c.246+80_246+81insC	NP_001339332.1:n.246+80_246+81insC
NM_001352406.2:c.156+80_156+81insC	NP_001339335.1:n.156+80_156+81insC
NM_001352407.2:c.156+80_156+81insC	NP_001339336.1:n.156+80_156+81insC
NR_029377.2:n.758+80_758+81insC
NR_147978.2:n.759-55_759-54insC
NR_147979.2:n.778+80_778+81insC
NR_147980.2:n.654+80_654+81insC
NR_147981.2:n.892+80_892+81insC
NR_147982.2:n.893-55_893-54insC
NR_147983.2:n.808+80_808+81insC
NM_001352408.2:c.718-55_718-54insC	NP_001339337.1:n.718-55_718-54insC