Canonical Allele Identifier: CA920168693

Gene: NDUFAF5

Linked Data

• dbSNP Id: rs1600358818

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801824_13801825dup , CM000682.2:g.13801824_13801825dup	GRCh38
NC_000020.10:g.13782470_13782471dup , CM000682.1:g.13782470_13782471dup	GRCh37
NC_000020.9:g.13730470_13730471dup	NCBI36
NG_015811.1:g.21799_21800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.717+141_717+142dup MANE Select	ENSP00000367346.5:n.717+141_717+142dup
ENST00000378081.9:c.717+141_717+142dup	ENSP00000437325.1:n.717+141_717+142dup
ENST00000378106.9:c.717+141_717+142dup	ENSP00000367346.5:n.717+141_717+142dup
ENST00000463598.1:c.633+141_633+142dup	ENSP00000420497.1:n.633+141_633+142dup
ENST00000464269.5:n.390+141_390+142dup
ENST00000475968.5:n.594+141_594+142dup
ENST00000476124.1:n.123_124dup
ENST00000476536.5:n.677+141_677+142dup
ENST00000477732.5:n.502+3324_502+3325dup
ENST00000479716.5:n.238+141_238+142dup
ENST00000481249.5:n.594+141_594+142dup
ENST00000485738.5:n.694+141_694+142dup
ENST00000487478.5:n.148_149dup
NM_001039375.2:c.633+141_633+142dup	NP_001034464.1:n.633+141_633+142dup
NM_024120.4:c.717+141_717+142dup	NP_077025.2:n.717+141_717+142dup
NR_029377.1:n.760+141_760+142dup
XM_006723620.2:c.724_725dup	XP_006723683.1:p.Ile244Ter
XM_006723622.2:c.246+141_246+142dup	XP_006723685.1:n.246+141_246+142dup
XM_006723623.1:c.246+141_246+142dup	XP_006723686.1:n.246+141_246+142dup
XM_006723624.1:c.246+141_246+142dup	XP_006723687.1:n.246+141_246+142dup
XM_011529341.1:c.717+141_717+142dup	XP_011527643.1:n.717+141_717+142dup
XM_011529342.1:c.717+141_717+142dup	XP_011527644.1:n.717+141_717+142dup
XM_011529343.1:c.717+141_717+142dup	XP_011527645.1:n.717+141_717+142dup
XM_011529344.1:c.348+141_348+142dup	XP_011527646.1:n.348+141_348+142dup
XR_430269.2:n.744_745dup
XR_937140.1:n.737+141_737+142dup
NM_001352403.1:c.246+141_246+142dup	NP_001339332.1:n.246+141_246+142dup
NM_001352406.1:c.156+141_156+142dup	NP_001339335.1:n.156+141_156+142dup
NM_001352407.1:c.156+141_156+142dup	NP_001339336.1:n.156+141_156+142dup
NM_001352408.1:c.724_725dup	NP_001339337.1:p.Ile244Ter
NR_147978.1:n.767_768dup
NR_147979.1:n.780+141_780+142dup
NR_147980.1:n.656+141_656+142dup
NR_147981.1:n.894+141_894+142dup
NR_147982.1:n.901_902dup
NR_147983.1:n.810+141_810+142dup
XM_006723624.2:c.246+141_246+142dup	XP_006723687.1:n.246+141_246+142dup
XM_011529342.2:c.717+141_717+142dup	XP_011527644.1:n.717+141_717+142dup
XM_024451999.1:c.246+141_246+142dup	XP_024307767.1:n.246+141_246+142dup
XR_001754396.1:n.676+141_676+142dup
XR_430269.3:n.744_745dup
XR_937140.2:n.737+141_737+142dup
NM_024120.5:c.717+141_717+142dup MANE Select	NP_077025.2:n.717+141_717+142dup
NM_001039375.3:c.633+141_633+142dup	NP_001034464.1:n.633+141_633+142dup
NM_001352403.2:c.246+141_246+142dup	NP_001339332.1:n.246+141_246+142dup
NM_001352406.2:c.156+141_156+142dup	NP_001339335.1:n.156+141_156+142dup
NM_001352407.2:c.156+141_156+142dup	NP_001339336.1:n.156+141_156+142dup
NR_029377.2:n.758+141_758+142dup
NR_147978.2:n.765_766dup
NR_147979.2:n.778+141_778+142dup
NR_147980.2:n.654+141_654+142dup
NR_147981.2:n.892+141_892+142dup
NR_147982.2:n.899_900dup
NR_147983.2:n.808+141_808+142dup
NM_001352408.2:c.724_725dup	NP_001339337.1:p.Ile244Ter