Canonical Allele Identifier: CA2351374485

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801797_13801800delinsCTTT , CM000682.2:g.13801797_13801800delinsCTTT	GRCh38
NC_000020.10:g.13782443_13782446delinsCTTT , CM000682.1:g.13782443_13782446delinsCTTT	GRCh37
NC_000020.9:g.13730443_13730446delinsCTTT	NCBI36
NG_015811.1:g.21772_21775delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717+114_717+117delinsCTTT MANE Select	ENSP00000367346.5:n.717+114_717+117delinsCTTT
ENST00000378081.9:c.717+114_717+117delinsCTTT	ENSP00000437325.1:n.717+114_717+117delinsCTTT
ENST00000378106.9:c.717+114_717+117delinsCTTT	ENSP00000367346.5:n.717+114_717+117delinsCTTT
ENST00000463598.1:c.633+114_633+117delinsCTTT	ENSP00000420497.1:n.633+114_633+117delinsCTTT
ENST00000464269.5:n.390+114_390+117delinsCTTT
ENST00000475968.5:n.594+114_594+117delinsCTTT
ENST00000476124.1:n.117-21_117-18delinsCTTT
ENST00000476536.5:n.677+114_677+117delinsCTTT
ENST00000477732.5:n.502+3297_502+3300delinsCTTT
ENST00000479716.5:n.238+114_238+117delinsCTTT
ENST00000481249.5:n.594+114_594+117delinsCTTT
ENST00000485738.5:n.694+114_694+117delinsCTTT
ENST00000487478.5:n.142-21_142-18delinsCTTT
NM_001039375.2:c.633+114_633+117delinsCTTT	NP_001034464.1:n.633+114_633+117delinsCTTT
NM_024120.4:c.717+114_717+117delinsCTTT	NP_077025.2:n.717+114_717+117delinsCTTT
NR_029377.1:n.760+114_760+117delinsCTTT
XM_006723620.2:c.718-21_718-18delinsCTTT	XP_006723683.1:n.718-21_718-18delinsCTTT
XM_006723622.2:c.246+114_246+117delinsCTTT	XP_006723685.1:n.246+114_246+117delinsCTTT
XM_006723623.1:c.246+114_246+117delinsCTTT	XP_006723686.1:n.246+114_246+117delinsCTTT
XM_006723624.1:c.246+114_246+117delinsCTTT	XP_006723687.1:n.246+114_246+117delinsCTTT
XM_011529341.1:c.717+114_717+117delinsCTTT	XP_011527643.1:n.717+114_717+117delinsCTTT
XM_011529342.1:c.717+114_717+117delinsCTTT	XP_011527644.1:n.717+114_717+117delinsCTTT
XM_011529343.1:c.717+114_717+117delinsCTTT	XP_011527645.1:n.717+114_717+117delinsCTTT
XM_011529344.1:c.348+114_348+117delinsCTTT	XP_011527646.1:n.348+114_348+117delinsCTTT
XR_430269.2:n.738-21_738-18delinsCTTT
XR_937140.1:n.737+114_737+117delinsCTTT
NM_001352403.1:c.246+114_246+117delinsCTTT	NP_001339332.1:n.246+114_246+117delinsCTTT
NM_001352406.1:c.156+114_156+117delinsCTTT	NP_001339335.1:n.156+114_156+117delinsCTTT
NM_001352407.1:c.156+114_156+117delinsCTTT	NP_001339336.1:n.156+114_156+117delinsCTTT
NM_001352408.1:c.718-21_718-18delinsCTTT	NP_001339337.1:n.718-21_718-18delinsCTTT
NR_147978.1:n.761-21_761-18delinsCTTT
NR_147979.1:n.780+114_780+117delinsCTTT
NR_147980.1:n.656+114_656+117delinsCTTT
NR_147981.1:n.894+114_894+117delinsCTTT
NR_147982.1:n.895-21_895-18delinsCTTT
NR_147983.1:n.810+114_810+117delinsCTTT
XM_006723624.2:c.246+114_246+117delinsCTTT	XP_006723687.1:n.246+114_246+117delinsCTTT
XM_011529342.2:c.717+114_717+117delinsCTTT	XP_011527644.1:n.717+114_717+117delinsCTTT
XM_024451999.1:c.246+114_246+117delinsCTTT	XP_024307767.1:n.246+114_246+117delinsCTTT
XR_001754396.1:n.676+114_676+117delinsCTTT
XR_430269.3:n.738-21_738-18delinsCTTT
XR_937140.2:n.737+114_737+117delinsCTTT
NM_024120.5:c.717+114_717+117delinsCTTT MANE Select	NP_077025.2:n.717+114_717+117delinsCTTT
NM_001039375.3:c.633+114_633+117delinsCTTT	NP_001034464.1:n.633+114_633+117delinsCTTT
NM_001352403.2:c.246+114_246+117delinsCTTT	NP_001339332.1:n.246+114_246+117delinsCTTT
NM_001352406.2:c.156+114_156+117delinsCTTT	NP_001339335.1:n.156+114_156+117delinsCTTT
NM_001352407.2:c.156+114_156+117delinsCTTT	NP_001339336.1:n.156+114_156+117delinsCTTT
NR_029377.2:n.758+114_758+117delinsCTTT
NR_147978.2:n.759-21_759-18delinsCTTT
NR_147979.2:n.778+114_778+117delinsCTTT
NR_147980.2:n.654+114_654+117delinsCTTT
NR_147981.2:n.892+114_892+117delinsCTTT
NR_147982.2:n.893-21_893-18delinsCTTT
NR_147983.2:n.808+114_808+117delinsCTTT
NM_001352408.2:c.718-21_718-18delinsCTTT	NP_001339337.1:n.718-21_718-18delinsCTTT