Canonical Allele Identifier: CA2351374405

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801674_13801678delinsTCTGA , CM000682.2:g.13801674_13801678delinsTCTGA	GRCh38
NC_000020.10:g.13782320_13782324delinsTCTGA , CM000682.1:g.13782320_13782324delinsTCTGA	GRCh37
NC_000020.9:g.13730320_13730324delinsTCTGA	NCBI36
NG_015811.1:g.21649_21653delinsTCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.708_712delinsTCTGA MANE Select	ENSP00000367346.5:p.Thr236=
ENST00000378081.9:c.708_712delinsTCTGA	ENSP00000437325.1:p.Thr236=
ENST00000378106.9:c.708_712delinsTCTGA	ENSP00000367346.5:p.Thr236=
ENST00000463598.1:c.624_628delinsTCTGA	ENSP00000420497.1:p.Thr208=
ENST00000464269.5:n.381_385delinsTCTGA
ENST00000475968.5:n.585_589delinsTCTGA
ENST00000476124.1:n.107_111delinsTCTGA
ENST00000476536.5:n.668_672delinsTCTGA
ENST00000477732.5:n.502+3174_502+3178delinsTCTGA
ENST00000479716.5:n.229_233delinsTCTGA
ENST00000481249.5:n.585_589delinsTCTGA
ENST00000485738.5:n.685_689delinsTCTGA
ENST00000487478.5:n.132_136delinsTCTGA
NM_001039375.2:c.624_628delinsTCTGA	NP_001034464.1:p.Thr208=
NM_024120.4:c.708_712delinsTCTGA	NP_077025.2:p.Thr236=
NR_029377.1:n.751_755delinsTCTGA
XM_006723620.2:c.708_712delinsTCTGA	XP_006723683.1:p.Thr236=
XM_006723622.2:c.237_241delinsTCTGA	XP_006723685.1:p.Thr79=
XM_006723623.1:c.237_241delinsTCTGA	XP_006723686.1:p.Thr79=
XM_006723624.1:c.237_241delinsTCTGA	XP_006723687.1:p.Thr79=
XM_011529341.1:c.708_712delinsTCTGA	XP_011527643.1:p.Thr236=
XM_011529342.1:c.708_712delinsTCTGA	XP_011527644.1:p.Thr236=
XM_011529343.1:c.708_712delinsTCTGA	XP_011527645.1:p.Thr236=
XM_011529344.1:c.339_343delinsTCTGA	XP_011527646.1:p.Thr113=
XR_430269.2:n.728_732delinsTCTGA
XR_937140.1:n.728_732delinsTCTGA
NM_001352403.1:c.237_241delinsTCTGA	NP_001339332.1:p.Thr79=
NM_001352406.1:c.147_151delinsTCTGA	NP_001339335.1:p.Thr49=
NM_001352407.1:c.147_151delinsTCTGA	NP_001339336.1:p.Thr49=
NM_001352408.1:c.708_712delinsTCTGA	NP_001339337.1:p.Thr236=
NR_147978.1:n.751_755delinsTCTGA
NR_147979.1:n.771_775delinsTCTGA
NR_147980.1:n.647_651delinsTCTGA
NR_147981.1:n.885_889delinsTCTGA
NR_147982.1:n.885_889delinsTCTGA
NR_147983.1:n.801_805delinsTCTGA
XM_006723624.2:c.237_241delinsTCTGA	XP_006723687.1:p.Thr79=
XM_011529342.2:c.708_712delinsTCTGA	XP_011527644.1:p.Thr236=
XM_024451999.1:c.237_241delinsTCTGA	XP_024307767.1:p.Thr79=
XR_001754396.1:n.667_671delinsTCTGA
XR_430269.3:n.728_732delinsTCTGA
XR_937140.2:n.728_732delinsTCTGA
NM_024120.5:c.708_712delinsTCTGA MANE Select	NP_077025.2:p.Thr236=
NM_001039375.3:c.624_628delinsTCTGA	NP_001034464.1:p.Thr208=
NM_001352403.2:c.237_241delinsTCTGA	NP_001339332.1:p.Thr79=
NM_001352406.2:c.147_151delinsTCTGA	NP_001339335.1:p.Thr49=
NM_001352407.2:c.147_151delinsTCTGA	NP_001339336.1:p.Thr49=
NR_029377.2:n.749_753delinsTCTGA
NR_147978.2:n.749_753delinsTCTGA
NR_147979.2:n.769_773delinsTCTGA
NR_147980.2:n.645_649delinsTCTGA
NR_147981.2:n.883_887delinsTCTGA
NR_147982.2:n.883_887delinsTCTGA
NR_147983.2:n.799_803delinsTCTGA
NM_001352408.2:c.708_712delinsTCTGA	NP_001339337.1:p.Thr236=