Canonical Allele Identifier: CA1015593343

Gene: NDUFAF5

Linked Data

• dbSNP Id: rs1984194823
• gnomAD v3: 20-13801787-CTT-C
• gnomAD v4: 20-13801787-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801789_13801790del , CM000682.2:g.13801789_13801790del	GRCh38
NC_000020.10:g.13782435_13782436del , CM000682.1:g.13782435_13782436del	GRCh37
NC_000020.9:g.13730435_13730436del	NCBI36
NG_015811.1:g.21764_21765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717+106_717+107del MANE Select	ENSP00000367346.5:n.717+106_717+107del
ENST00000378081.9:c.717+106_717+107del	ENSP00000437325.1:n.717+106_717+107del
ENST00000378106.9:c.717+106_717+107del	ENSP00000367346.5:n.717+106_717+107del
ENST00000463598.1:c.633+106_633+107del	ENSP00000420497.1:n.633+106_633+107del
ENST00000464269.5:n.390+106_390+107del
ENST00000475968.5:n.594+106_594+107del
ENST00000476124.1:n.117-29_117-28del
ENST00000476536.5:n.677+106_677+107del
ENST00000477732.5:n.502+3289_502+3290del
ENST00000479716.5:n.238+106_238+107del
ENST00000481249.5:n.594+106_594+107del
ENST00000485738.5:n.694+106_694+107del
ENST00000487478.5:n.142-29_142-28del
NM_001039375.2:c.633+106_633+107del	NP_001034464.1:n.633+106_633+107del
NM_024120.4:c.717+106_717+107del	NP_077025.2:n.717+106_717+107del
NR_029377.1:n.760+106_760+107del
XM_006723620.2:c.718-29_718-28del	XP_006723683.1:n.718-29_718-28del
XM_006723622.2:c.246+106_246+107del	XP_006723685.1:n.246+106_246+107del
XM_006723623.1:c.246+106_246+107del	XP_006723686.1:n.246+106_246+107del
XM_006723624.1:c.246+106_246+107del	XP_006723687.1:n.246+106_246+107del
XM_011529341.1:c.717+106_717+107del	XP_011527643.1:n.717+106_717+107del
XM_011529342.1:c.717+106_717+107del	XP_011527644.1:n.717+106_717+107del
XM_011529343.1:c.717+106_717+107del	XP_011527645.1:n.717+106_717+107del
XM_011529344.1:c.348+106_348+107del	XP_011527646.1:n.348+106_348+107del
XR_430269.2:n.738-29_738-28del
XR_937140.1:n.737+106_737+107del
NM_001352403.1:c.246+106_246+107del	NP_001339332.1:n.246+106_246+107del
NM_001352406.1:c.156+106_156+107del	NP_001339335.1:n.156+106_156+107del
NM_001352407.1:c.156+106_156+107del	NP_001339336.1:n.156+106_156+107del
NM_001352408.1:c.718-29_718-28del	NP_001339337.1:n.718-29_718-28del
NR_147978.1:n.761-29_761-28del
NR_147979.1:n.780+106_780+107del
NR_147980.1:n.656+106_656+107del
NR_147981.1:n.894+106_894+107del
NR_147982.1:n.895-29_895-28del
NR_147983.1:n.810+106_810+107del
XM_006723624.2:c.246+106_246+107del	XP_006723687.1:n.246+106_246+107del
XM_011529342.2:c.717+106_717+107del	XP_011527644.1:n.717+106_717+107del
XM_024451999.1:c.246+106_246+107del	XP_024307767.1:n.246+106_246+107del
XR_001754396.1:n.676+106_676+107del
XR_430269.3:n.738-29_738-28del
XR_937140.2:n.737+106_737+107del
NM_024120.5:c.717+106_717+107del MANE Select	NP_077025.2:n.717+106_717+107del
NM_001039375.3:c.633+106_633+107del	NP_001034464.1:n.633+106_633+107del
NM_001352403.2:c.246+106_246+107del	NP_001339332.1:n.246+106_246+107del
NM_001352406.2:c.156+106_156+107del	NP_001339335.1:n.156+106_156+107del
NM_001352407.2:c.156+106_156+107del	NP_001339336.1:n.156+106_156+107del
NR_029377.2:n.758+106_758+107del
NR_147978.2:n.759-29_759-28del
NR_147979.2:n.778+106_778+107del
NR_147980.2:n.654+106_654+107del
NR_147981.2:n.892+106_892+107del
NR_147982.2:n.893-29_893-28del
NR_147983.2:n.808+106_808+107del
NM_001352408.2:c.718-29_718-28del	NP_001339337.1:n.718-29_718-28del