Canonical Allele Identifier: CA2651946675

Gene: NDUFAF5

Linked Data

• gnomAD v4: 20-13801759-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801761_13801762del , CM000682.2:g.13801761_13801762del	GRCh38
NC_000020.10:g.13782407_13782408del , CM000682.1:g.13782407_13782408del	GRCh37
NC_000020.9:g.13730407_13730408del	NCBI36
NG_015811.1:g.21736_21737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717+78_717+79del MANE Select	ENSP00000367346.5:n.717+78_717+79del
ENST00000378081.9:c.717+78_717+79del	ENSP00000437325.1:n.717+78_717+79del
ENST00000378106.9:c.717+78_717+79del	ENSP00000367346.5:n.717+78_717+79del
ENST00000463598.1:c.633+78_633+79del	ENSP00000420497.1:n.633+78_633+79del
ENST00000464269.5:n.390+78_390+79del
ENST00000475968.5:n.594+78_594+79del
ENST00000476124.1:n.117-57_117-56del
ENST00000476536.5:n.677+78_677+79del
ENST00000477732.5:n.502+3261_502+3262del
ENST00000479716.5:n.238+78_238+79del
ENST00000481249.5:n.594+78_594+79del
ENST00000485738.5:n.694+78_694+79del
ENST00000487478.5:n.142-57_142-56del
NM_001039375.2:c.633+78_633+79del	NP_001034464.1:n.633+78_633+79del
NM_024120.4:c.717+78_717+79del	NP_077025.2:n.717+78_717+79del
NR_029377.1:n.760+78_760+79del
XM_006723620.2:c.718-57_718-56del	XP_006723683.1:n.718-57_718-56del
XM_006723622.2:c.246+78_246+79del	XP_006723685.1:n.246+78_246+79del
XM_006723623.1:c.246+78_246+79del	XP_006723686.1:n.246+78_246+79del
XM_006723624.1:c.246+78_246+79del	XP_006723687.1:n.246+78_246+79del
XM_011529341.1:c.717+78_717+79del	XP_011527643.1:n.717+78_717+79del
XM_011529342.1:c.717+78_717+79del	XP_011527644.1:n.717+78_717+79del
XM_011529343.1:c.717+78_717+79del	XP_011527645.1:n.717+78_717+79del
XM_011529344.1:c.348+78_348+79del	XP_011527646.1:n.348+78_348+79del
XR_430269.2:n.738-57_738-56del
XR_937140.1:n.737+78_737+79del
NM_001352403.1:c.246+78_246+79del	NP_001339332.1:n.246+78_246+79del
NM_001352406.1:c.156+78_156+79del	NP_001339335.1:n.156+78_156+79del
NM_001352407.1:c.156+78_156+79del	NP_001339336.1:n.156+78_156+79del
NM_001352408.1:c.718-57_718-56del	NP_001339337.1:n.718-57_718-56del
NR_147978.1:n.761-57_761-56del
NR_147979.1:n.780+78_780+79del
NR_147980.1:n.656+78_656+79del
NR_147981.1:n.894+78_894+79del
NR_147982.1:n.895-57_895-56del
NR_147983.1:n.810+78_810+79del
XM_006723624.2:c.246+78_246+79del	XP_006723687.1:n.246+78_246+79del
XM_011529342.2:c.717+78_717+79del	XP_011527644.1:n.717+78_717+79del
XM_024451999.1:c.246+78_246+79del	XP_024307767.1:n.246+78_246+79del
XR_001754396.1:n.676+78_676+79del
XR_430269.3:n.738-57_738-56del
XR_937140.2:n.737+78_737+79del
NM_024120.5:c.717+78_717+79del MANE Select	NP_077025.2:n.717+78_717+79del
NM_001039375.3:c.633+78_633+79del	NP_001034464.1:n.633+78_633+79del
NM_001352403.2:c.246+78_246+79del	NP_001339332.1:n.246+78_246+79del
NM_001352406.2:c.156+78_156+79del	NP_001339335.1:n.156+78_156+79del
NM_001352407.2:c.156+78_156+79del	NP_001339336.1:n.156+78_156+79del
NR_029377.2:n.758+78_758+79del
NR_147978.2:n.759-57_759-56del
NR_147979.2:n.778+78_778+79del
NR_147980.2:n.654+78_654+79del
NR_147981.2:n.892+78_892+79del
NR_147982.2:n.893-57_893-56del
NR_147983.2:n.808+78_808+79del
NM_001352408.2:c.718-57_718-56del	NP_001339337.1:n.718-57_718-56del