Canonical Allele Identifier: CA2351374402

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801672_13801674delinsACT , CM000682.2:g.13801672_13801674delinsACT	GRCh38
NC_000020.10:g.13782318_13782320delinsACT , CM000682.1:g.13782318_13782320delinsACT	GRCh37
NC_000020.9:g.13730318_13730320delinsACT	NCBI36
NG_015811.1:g.21647_21649delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.706_708delinsACT MANE Select	ENSP00000367346.5:p.Thr236=
ENST00000378081.9:c.706_708delinsACT	ENSP00000437325.1:p.Thr236=
ENST00000378106.9:c.706_708delinsACT	ENSP00000367346.5:p.Thr236=
ENST00000463598.1:c.622_624delinsACT	ENSP00000420497.1:p.Thr208=
ENST00000464269.5:n.379_381delinsACT
ENST00000475968.5:n.583_585delinsACT
ENST00000476124.1:n.105_107delinsACT
ENST00000476536.5:n.666_668delinsACT
ENST00000477732.5:n.502+3172_502+3174delinsACT
ENST00000479716.5:n.227_229delinsACT
ENST00000481249.5:n.583_585delinsACT
ENST00000485738.5:n.683_685delinsACT
ENST00000487478.5:n.130_132delinsACT
NM_001039375.2:c.622_624delinsACT	NP_001034464.1:p.Thr208=
NM_024120.4:c.706_708delinsACT	NP_077025.2:p.Thr236=
NR_029377.1:n.749_751delinsACT
XM_006723620.2:c.706_708delinsACT	XP_006723683.1:p.Thr236=
XM_006723622.2:c.235_237delinsACT	XP_006723685.1:p.Thr79=
XM_006723623.1:c.235_237delinsACT	XP_006723686.1:p.Thr79=
XM_006723624.1:c.235_237delinsACT	XP_006723687.1:p.Thr79=
XM_011529341.1:c.706_708delinsACT	XP_011527643.1:p.Thr236=
XM_011529342.1:c.706_708delinsACT	XP_011527644.1:p.Thr236=
XM_011529343.1:c.706_708delinsACT	XP_011527645.1:p.Thr236=
XM_011529344.1:c.337_339delinsACT	XP_011527646.1:p.Thr113=
XR_430269.2:n.726_728delinsACT
XR_937140.1:n.726_728delinsACT
NM_001352403.1:c.235_237delinsACT	NP_001339332.1:p.Thr79=
NM_001352406.1:c.145_147delinsACT	NP_001339335.1:p.Thr49=
NM_001352407.1:c.145_147delinsACT	NP_001339336.1:p.Thr49=
NM_001352408.1:c.706_708delinsACT	NP_001339337.1:p.Thr236=
NR_147978.1:n.749_751delinsACT
NR_147979.1:n.769_771delinsACT
NR_147980.1:n.645_647delinsACT
NR_147981.1:n.883_885delinsACT
NR_147982.1:n.883_885delinsACT
NR_147983.1:n.799_801delinsACT
XM_006723624.2:c.235_237delinsACT	XP_006723687.1:p.Thr79=
XM_011529342.2:c.706_708delinsACT	XP_011527644.1:p.Thr236=
XM_024451999.1:c.235_237delinsACT	XP_024307767.1:p.Thr79=
XR_001754396.1:n.665_667delinsACT
XR_430269.3:n.726_728delinsACT
XR_937140.2:n.726_728delinsACT
NM_024120.5:c.706_708delinsACT MANE Select	NP_077025.2:p.Thr236=
NM_001039375.3:c.622_624delinsACT	NP_001034464.1:p.Thr208=
NM_001352403.2:c.235_237delinsACT	NP_001339332.1:p.Thr79=
NM_001352406.2:c.145_147delinsACT	NP_001339335.1:p.Thr49=
NM_001352407.2:c.145_147delinsACT	NP_001339336.1:p.Thr49=
NR_029377.2:n.747_749delinsACT
NR_147978.2:n.747_749delinsACT
NR_147979.2:n.767_769delinsACT
NR_147980.2:n.643_645delinsACT
NR_147981.2:n.881_883delinsACT
NR_147982.2:n.881_883delinsACT
NR_147983.2:n.797_799delinsACT
NM_001352408.2:c.706_708delinsACT	NP_001339337.1:p.Thr236=