Canonical Allele Identifier: CA2351374362

Gene: NDUFAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801564_13801565delinsTC , CM000682.2:g.13801564_13801565delinsTC	GRCh38
NC_000020.10:g.13782210_13782211delinsTC , CM000682.1:g.13782210_13782211delinsTC	GRCh37
NC_000020.9:g.13730210_13730211delinsTC	NCBI36
NG_015811.1:g.21539_21540delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000378106.10:c.598_599delinsTC MANE Select	ENSP00000367346.5:p.Ser200=
ENST00000378081.9:c.598_599delinsTC	ENSP00000437325.1:p.Ser200=
ENST00000378106.9:c.598_599delinsTC	ENSP00000367346.5:p.Ser200=
ENST00000463598.1:c.514_515delinsTC	ENSP00000420497.1:p.Ser172=
ENST00000464269.5:n.271_272delinsTC
ENST00000475968.5:n.475_476delinsTC
ENST00000476536.5:n.558_559delinsTC
ENST00000477732.5:n.502+3064_502+3065delinsTC
ENST00000479716.5:n.119_120delinsTC
ENST00000481249.5:n.475_476delinsTC
ENST00000485738.5:n.575_576delinsTC
ENST00000487478.5:n.22_23delinsTC
NM_001039375.2:c.514_515delinsTC	NP_001034464.1:p.Ser172=
NM_024120.4:c.598_599delinsTC	NP_077025.2:p.Ser200=
NR_029377.1:n.641_642delinsTC
XM_006723620.2:c.598_599delinsTC	XP_006723683.1:p.Ser200=
XM_006723622.2:c.127_128delinsTC	XP_006723685.1:p.Ser43=
XM_006723623.1:c.127_128delinsTC	XP_006723686.1:p.Ser43=
XM_006723624.1:c.127_128delinsTC	XP_006723687.1:p.Ser43=
XM_011529341.1:c.598_599delinsTC	XP_011527643.1:p.Ser200=
XM_011529342.1:c.598_599delinsTC	XP_011527644.1:p.Ser200=
XM_011529343.1:c.598_599delinsTC	XP_011527645.1:p.Ser200=
XM_011529344.1:c.229_230delinsTC	XP_011527646.1:p.Ser77=
XR_430269.2:n.618_619delinsTC
XR_937140.1:n.618_619delinsTC
NM_001352403.1:c.127_128delinsTC	NP_001339332.1:p.Ser43=
NM_001352406.1:c.37_38delinsTC	NP_001339335.1:p.Ser13=
NM_001352407.1:c.37_38delinsTC	NP_001339336.1:p.Ser13=
NM_001352408.1:c.598_599delinsTC	NP_001339337.1:p.Ser200=
NR_147978.1:n.641_642delinsTC
NR_147979.1:n.661_662delinsTC
NR_147980.1:n.537_538delinsTC
NR_147981.1:n.775_776delinsTC
NR_147982.1:n.775_776delinsTC
NR_147983.1:n.691_692delinsTC
XM_006723624.2:c.127_128delinsTC	XP_006723687.1:p.Ser43=
XM_011529342.2:c.598_599delinsTC	XP_011527644.1:p.Ser200=
XM_024451999.1:c.127_128delinsTC	XP_024307767.1:p.Ser43=
XR_001754396.1:n.557_558delinsTC
XR_430269.3:n.618_619delinsTC
XR_937140.2:n.618_619delinsTC
NM_024120.5:c.598_599delinsTC MANE Select	NP_077025.2:p.Ser200=
NM_001039375.3:c.514_515delinsTC	NP_001034464.1:p.Ser172=
NM_001352403.2:c.127_128delinsTC	NP_001339332.1:p.Ser43=
NM_001352406.2:c.37_38delinsTC	NP_001339335.1:p.Ser13=
NM_001352407.2:c.37_38delinsTC	NP_001339336.1:p.Ser13=
NR_029377.2:n.639_640delinsTC
NR_147978.2:n.639_640delinsTC
NR_147979.2:n.659_660delinsTC
NR_147980.2:n.535_536delinsTC
NR_147981.2:n.773_774delinsTC
NR_147982.2:n.773_774delinsTC
NR_147983.2:n.689_690delinsTC
NM_001352408.2:c.598_599delinsTC	NP_001339337.1:p.Ser200=