Canonical Allele Identifier: CA1015593309

Gene: NDUFAF5

Linked Data

• dbSNP Id: rs1984177942
• gnomAD v3: 20-13801738-TATC-T
• gnomAD v4: 20-13801738-TATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801741_13801743del , CM000682.2:g.13801741_13801743del	GRCh38
NC_000020.10:g.13782387_13782389del , CM000682.1:g.13782387_13782389del	GRCh37
NC_000020.9:g.13730387_13730389del	NCBI36
NG_015811.1:g.21716_21718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717+58_717+60del MANE Select	ENSP00000367346.5:n.717+58_717+60del
ENST00000378081.9:c.717+58_717+60del	ENSP00000437325.1:n.717+58_717+60del
ENST00000378106.9:c.717+58_717+60del	ENSP00000367346.5:n.717+58_717+60del
ENST00000463598.1:c.633+58_633+60del	ENSP00000420497.1:n.633+58_633+60del
ENST00000464269.5:n.390+58_390+60del
ENST00000475968.5:n.594+58_594+60del
ENST00000476124.1:n.116+58_116+60del
ENST00000476536.5:n.677+58_677+60del
ENST00000477732.5:n.502+3241_502+3243del
ENST00000479716.5:n.238+58_238+60del
ENST00000481249.5:n.594+58_594+60del
ENST00000485738.5:n.694+58_694+60del
ENST00000487478.5:n.141+58_141+60del
NM_001039375.2:c.633+58_633+60del	NP_001034464.1:n.633+58_633+60del
NM_024120.4:c.717+58_717+60del	NP_077025.2:n.717+58_717+60del
NR_029377.1:n.760+58_760+60del
XM_006723620.2:c.717+58_717+60del	XP_006723683.1:n.717+58_717+60del
XM_006723622.2:c.246+58_246+60del	XP_006723685.1:n.246+58_246+60del
XM_006723623.1:c.246+58_246+60del	XP_006723686.1:n.246+58_246+60del
XM_006723624.1:c.246+58_246+60del	XP_006723687.1:n.246+58_246+60del
XM_011529341.1:c.717+58_717+60del	XP_011527643.1:n.717+58_717+60del
XM_011529342.1:c.717+58_717+60del	XP_011527644.1:n.717+58_717+60del
XM_011529343.1:c.717+58_717+60del	XP_011527645.1:n.717+58_717+60del
XM_011529344.1:c.348+58_348+60del	XP_011527646.1:n.348+58_348+60del
XR_430269.2:n.737+58_737+60del
XR_937140.1:n.737+58_737+60del
NM_001352403.1:c.246+58_246+60del	NP_001339332.1:n.246+58_246+60del
NM_001352406.1:c.156+58_156+60del	NP_001339335.1:n.156+58_156+60del
NM_001352407.1:c.156+58_156+60del	NP_001339336.1:n.156+58_156+60del
NM_001352408.1:c.717+58_717+60del	NP_001339337.1:n.717+58_717+60del
NR_147978.1:n.760+58_760+60del
NR_147979.1:n.780+58_780+60del
NR_147980.1:n.656+58_656+60del
NR_147981.1:n.894+58_894+60del
NR_147982.1:n.894+58_894+60del
NR_147983.1:n.810+58_810+60del
XM_006723624.2:c.246+58_246+60del	XP_006723687.1:n.246+58_246+60del
XM_011529342.2:c.717+58_717+60del	XP_011527644.1:n.717+58_717+60del
XM_024451999.1:c.246+58_246+60del	XP_024307767.1:n.246+58_246+60del
XR_001754396.1:n.676+58_676+60del
XR_430269.3:n.737+58_737+60del
XR_937140.2:n.737+58_737+60del
NM_024120.5:c.717+58_717+60del MANE Select	NP_077025.2:n.717+58_717+60del
NM_001039375.3:c.633+58_633+60del	NP_001034464.1:n.633+58_633+60del
NM_001352403.2:c.246+58_246+60del	NP_001339332.1:n.246+58_246+60del
NM_001352406.2:c.156+58_156+60del	NP_001339335.1:n.156+58_156+60del
NM_001352407.2:c.156+58_156+60del	NP_001339336.1:n.156+58_156+60del
NR_029377.2:n.758+58_758+60del
NR_147978.2:n.758+58_758+60del
NR_147979.2:n.778+58_778+60del
NR_147980.2:n.654+58_654+60del
NR_147981.2:n.892+58_892+60del
NR_147982.2:n.892+58_892+60del
NR_147983.2:n.808+58_808+60del
NM_001352408.2:c.717+58_717+60del	NP_001339337.1:n.717+58_717+60del