Canonical Allele Identifier: CA634802179

Gene: NDUFAF5

Linked Data

• dbSNP Id: rs1477419275
• gnomAD v2: 20-13782318-ACT-A
• gnomAD v4: 20-13801672-ACT-A
• MyVariant Identifiers: chr20:g.13782319_13782320del (hg19) ; chr20:g.13801673_13801674del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801675_13801676del , CM000682.2:g.13801675_13801676del	GRCh38
NC_000020.10:g.13782321_13782322del , CM000682.1:g.13782321_13782322del	GRCh37
NC_000020.9:g.13730321_13730322del	NCBI36
NG_015811.1:g.21650_21651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.709_710del MANE Select	ENSP00000367346.5:p.Leu237AspfsTer5
ENST00000378081.9:c.709_710del	ENSP00000437325.1:p.Leu237AspfsTer5
ENST00000378106.9:c.709_710del	ENSP00000367346.5:p.Leu237AspfsTer5
ENST00000463598.1:c.625_626del	ENSP00000420497.1:p.Leu209AspfsTer5
ENST00000464269.5:n.382_383del
ENST00000475968.5:n.586_587del
ENST00000476124.1:n.108_109del
ENST00000476536.5:n.669_670del
ENST00000477732.5:n.502+3175_502+3176del
ENST00000479716.5:n.230_231del
ENST00000481249.5:n.586_587del
ENST00000485738.5:n.686_687del
ENST00000487478.5:n.133_134del
NM_001039375.2:c.625_626del	NP_001034464.1:p.Leu209AspfsTer5
NM_024120.4:c.709_710del	NP_077025.2:p.Leu237AspfsTer5
NR_029377.1:n.752_753del
XM_006723620.2:c.709_710del	XP_006723683.1:p.Leu237AspfsTer8
XM_006723622.2:c.238_239del	XP_006723685.1:p.Leu80AspfsTer5
XM_006723623.1:c.238_239del	XP_006723686.1:p.Leu80AspfsTer5
XM_006723624.1:c.238_239del	XP_006723687.1:p.Leu80AspfsTer5
XM_011529341.1:c.709_710del	XP_011527643.1:p.Leu237AspfsTer5
XM_011529342.1:c.709_710del	XP_011527644.1:p.Leu237AspfsTer13
XM_011529343.1:c.709_710del	XP_011527645.1:p.Leu237AspfsTer5
XM_011529344.1:c.340_341del	XP_011527646.1:p.Leu114AspfsTer5
XR_430269.2:n.729_730del
XR_937140.1:n.729_730del
NM_001352403.1:c.238_239del	NP_001339332.1:p.Leu80AspfsTer5
NM_001352406.1:c.148_149del	NP_001339335.1:p.Leu50AspfsTer5
NM_001352407.1:c.148_149del	NP_001339336.1:p.Leu50AspfsTer5
NM_001352408.1:c.709_710del	NP_001339337.1:p.Leu237AspfsTer8
NR_147978.1:n.752_753del
NR_147979.1:n.772_773del
NR_147980.1:n.648_649del
NR_147981.1:n.886_887del
NR_147982.1:n.886_887del
NR_147983.1:n.802_803del
XM_006723624.2:c.238_239del	XP_006723687.1:p.Leu80AspfsTer5
XM_011529342.2:c.709_710del	XP_011527644.1:p.Leu237AspfsTer13
XM_024451999.1:c.238_239del	XP_024307767.1:p.Leu80AspfsTer5
XR_001754396.1:n.668_669del
XR_430269.3:n.729_730del
XR_937140.2:n.729_730del
NM_024120.5:c.709_710del MANE Select	NP_077025.2:p.Leu237AspfsTer5
NM_001039375.3:c.625_626del	NP_001034464.1:p.Leu209AspfsTer5
NM_001352403.2:c.238_239del	NP_001339332.1:p.Leu80AspfsTer5
NM_001352406.2:c.148_149del	NP_001339335.1:p.Leu50AspfsTer5
NM_001352407.2:c.148_149del	NP_001339336.1:p.Leu50AspfsTer5
NR_029377.2:n.750_751del
NR_147978.2:n.750_751del
NR_147979.2:n.770_771del
NR_147980.2:n.646_647del
NR_147981.2:n.884_885del
NR_147982.2:n.884_885del
NR_147983.2:n.800_801del
NM_001352408.2:c.709_710del	NP_001339337.1:p.Leu237AspfsTer8