Canonical Allele Identifier: CA311387347

Gene: NDUFAF5

Linked Data

• dbSNP Id: rs780482104
• gnomAD v4: 20-13801797-CTTT-C
• MyVariant Identifiers: chr20:g.13782444_13782446del (hg19) ; chr20:g.13801798_13801800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801804_13801806del , CM000682.2:g.13801804_13801806del	GRCh38
NC_000020.10:g.13782450_13782452del , CM000682.1:g.13782450_13782452del	GRCh37
NC_000020.9:g.13730450_13730452del	NCBI36
NG_015811.1:g.21779_21781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717+121_717+123del MANE Select	ENSP00000367346.5:n.717+121_717+123del
ENST00000378081.9:c.717+121_717+123del	ENSP00000437325.1:n.717+121_717+123del
ENST00000378106.9:c.717+121_717+123del	ENSP00000367346.5:n.717+121_717+123del
ENST00000463598.1:c.633+121_633+123del	ENSP00000420497.1:n.633+121_633+123del
ENST00000464269.5:n.390+121_390+123del
ENST00000475968.5:n.594+121_594+123del
ENST00000476124.1:n.117-14_117-12del
ENST00000476536.5:n.677+121_677+123del
ENST00000477732.5:n.502+3304_502+3306del
ENST00000479716.5:n.238+121_238+123del
ENST00000481249.5:n.594+121_594+123del
ENST00000485738.5:n.694+121_694+123del
ENST00000487478.5:n.142-14_142-12del
NM_001039375.2:c.633+121_633+123del	NP_001034464.1:n.633+121_633+123del
NM_024120.4:c.717+121_717+123del	NP_077025.2:n.717+121_717+123del
NR_029377.1:n.760+121_760+123del
XM_006723620.2:c.718-14_718-12del	XP_006723683.1:n.718-14_718-12del
XM_006723622.2:c.246+121_246+123del	XP_006723685.1:n.246+121_246+123del
XM_006723623.1:c.246+121_246+123del	XP_006723686.1:n.246+121_246+123del
XM_006723624.1:c.246+121_246+123del	XP_006723687.1:n.246+121_246+123del
XM_011529341.1:c.717+121_717+123del	XP_011527643.1:n.717+121_717+123del
XM_011529342.1:c.717+121_717+123del	XP_011527644.1:n.717+121_717+123del
XM_011529343.1:c.717+121_717+123del	XP_011527645.1:n.717+121_717+123del
XM_011529344.1:c.348+121_348+123del	XP_011527646.1:n.348+121_348+123del
XR_430269.2:n.738-14_738-12del
XR_937140.1:n.737+121_737+123del
NM_001352403.1:c.246+121_246+123del	NP_001339332.1:n.246+121_246+123del
NM_001352406.1:c.156+121_156+123del	NP_001339335.1:n.156+121_156+123del
NM_001352407.1:c.156+121_156+123del	NP_001339336.1:n.156+121_156+123del
NM_001352408.1:c.718-14_718-12del	NP_001339337.1:n.718-14_718-12del
NR_147978.1:n.761-14_761-12del
NR_147979.1:n.780+121_780+123del
NR_147980.1:n.656+121_656+123del
NR_147981.1:n.894+121_894+123del
NR_147982.1:n.895-14_895-12del
NR_147983.1:n.810+121_810+123del
XM_006723624.2:c.246+121_246+123del	XP_006723687.1:n.246+121_246+123del
XM_011529342.2:c.717+121_717+123del	XP_011527644.1:n.717+121_717+123del
XM_024451999.1:c.246+121_246+123del	XP_024307767.1:n.246+121_246+123del
XR_001754396.1:n.676+121_676+123del
XR_430269.3:n.738-14_738-12del
XR_937140.2:n.737+121_737+123del
NM_024120.5:c.717+121_717+123del MANE Select	NP_077025.2:n.717+121_717+123del
NM_001039375.3:c.633+121_633+123del	NP_001034464.1:n.633+121_633+123del
NM_001352403.2:c.246+121_246+123del	NP_001339332.1:n.246+121_246+123del
NM_001352406.2:c.156+121_156+123del	NP_001339335.1:n.156+121_156+123del
NM_001352407.2:c.156+121_156+123del	NP_001339336.1:n.156+121_156+123del
NR_029377.2:n.758+121_758+123del
NR_147978.2:n.759-14_759-12del
NR_147979.2:n.778+121_778+123del
NR_147980.2:n.654+121_654+123del
NR_147981.2:n.892+121_892+123del
NR_147982.2:n.893-14_893-12del
NR_147983.2:n.808+121_808+123del
NM_001352408.2:c.718-14_718-12del	NP_001339337.1:n.718-14_718-12del