Canonical Allele Identifier: CA2695201385

Gene: NDUFAF5

Linked Data

• ClinVar Variation Id: 2676978
• ClinVar RCV Id: RCV003463099 ; RCV003720919

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801656del , CM000682.2:g.13801656del	GRCh38
NC_000020.10:g.13782302del , CM000682.1:g.13782302del	GRCh37
NC_000020.9:g.13730302del	NCBI36
NG_015811.1:g.21631del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378106.10:c.690del MANE Select	ENSP00000367346.5:p.Arg231GlufsTer7
ENST00000378081.9:c.690del	ENSP00000437325.1:p.Arg231GlufsTer7
ENST00000378106.9:c.690del	ENSP00000367346.5:p.Arg231GlufsTer7
ENST00000463598.1:c.606del	ENSP00000420497.1:p.Arg203GlufsTer7
ENST00000464269.5:n.363del
ENST00000475968.5:n.567del
ENST00000476124.1:n.89del
ENST00000476536.5:n.650del
ENST00000477732.5:n.502+3156del
ENST00000479716.5:n.211del
ENST00000481249.5:n.567del
ENST00000485738.5:n.667del
ENST00000487478.5:n.114del
NM_001039375.2:c.606del	NP_001034464.1:p.Arg203GlufsTer7
NM_024120.4:c.690del	NP_077025.2:p.Arg231GlufsTer7
NR_029377.1:n.733del
XM_006723620.2:c.690del	XP_006723683.1:p.Arg231GlufsTer7
XM_006723622.2:c.219del	XP_006723685.1:p.Arg74GlufsTer7
XM_006723623.1:c.219del	XP_006723686.1:p.Arg74GlufsTer7
XM_006723624.1:c.219del	XP_006723687.1:p.Arg74GlufsTer7
XM_011529341.1:c.690del	XP_011527643.1:p.Arg231GlufsTer7
XM_011529342.1:c.690del	XP_011527644.1:p.Arg231GlufsTer7
XM_011529343.1:c.690del	XP_011527645.1:p.Arg231GlufsTer7
XM_011529344.1:c.321del	XP_011527646.1:p.Arg108GlufsTer7
XR_430269.2:n.710del
XR_937140.1:n.710del
NM_001352403.1:c.219del	NP_001339332.1:p.Arg74GlufsTer7
NM_001352406.1:c.129del	NP_001339335.1:p.Arg44GlufsTer7
NM_001352407.1:c.129del	NP_001339336.1:p.Arg44GlufsTer7
NM_001352408.1:c.690del	NP_001339337.1:p.Arg231GlufsTer7
NR_147978.1:n.733del
NR_147979.1:n.753del
NR_147980.1:n.629del
NR_147981.1:n.867del
NR_147982.1:n.867del
NR_147983.1:n.783del
XM_006723624.2:c.219del	XP_006723687.1:p.Arg74GlufsTer7
XM_011529342.2:c.690del	XP_011527644.1:p.Arg231GlufsTer7
XM_024451999.1:c.219del	XP_024307767.1:p.Arg74GlufsTer7
XR_001754396.1:n.649del
XR_430269.3:n.710del
XR_937140.2:n.710del
NM_024120.5:c.690del MANE Select	NP_077025.2:p.Arg231GlufsTer7
NM_001039375.3:c.606del	NP_001034464.1:p.Arg203GlufsTer7
NM_001352403.2:c.219del	NP_001339332.1:p.Arg74GlufsTer7
NM_001352406.2:c.129del	NP_001339335.1:p.Arg44GlufsTer7
NM_001352407.2:c.129del	NP_001339336.1:p.Arg44GlufsTer7
NR_029377.2:n.731del
NR_147978.2:n.731del
NR_147979.2:n.751del
NR_147980.2:n.627del
NR_147981.2:n.865del
NR_147982.2:n.865del
NR_147983.2:n.781del
NM_001352408.2:c.690del	NP_001339337.1:p.Arg231GlufsTer7