Canonical Allele Identifier: CA616113105
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTG NCBI36
NG_008198.2:g.40605_40606insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*583_*584insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*583_*584insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554672.6:c.372_373insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.6:c.*319_*320insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*319_*320insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.6:c.*583_*584insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*583_*584insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.6:c.*104_*105insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*104_*105insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.6:c.372_373insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000644486.2:c.909_910insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000646485.1:c.*104_*105insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000496590.1:n.*104_*105insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000647161.1:c.909_910insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000340660.10:c.744_745insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000359366.9:c.*583_*584insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*583_*584insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000393287.9:c.756_757insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000429774.6:c.699_700insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000502250.5:c.372_373insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000503767.5:c.864_865insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000526245.1:n.117-12230_117-12229insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.909_910insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000545170.5:c.936_937insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553287.5:n.647_648insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.943_944insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*724_*725insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*724_*725insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553491.5:c.756_757insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553498.5:n.832_833insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*368_*369insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*368_*369insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553686.5:n.790_791insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.513_514insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.692_693insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*509_*510insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*509_*510insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554491.5:n.985_986insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.906_907insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554672.5:c.615_616insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554994.5:c.*368_*369insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*368_*369insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555381.5:c.699_700insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000555816.5:c.*416_*417insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*416_*417insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555958.5:n.778_779insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*319_*320insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*319_*320insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556220.5:c.591_592insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556274.5:c.*572_*573insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*572_*573insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556288.5:c.*560_*561insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*560_*561insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.5:c.*583_*584insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*583_*584insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556339.5:n.446_447insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*637_*638insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*637_*638insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556644.5:n.293_294insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*487_*488insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*487_*488insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556898.5:c.*406_*407insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*406_*407insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556958.5:c.*368_*369insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*368_*369insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.5:c.*104_*105insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*104_*105insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.5:c.372_373insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000558190.5:c.909_910insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000617719.4:c.*67_*68insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*67_*68insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000620536.4:c.936_937insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.864_865insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.2:c.756_757insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164774.1:c.226_227insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala75_Ala76insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.271_272insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala90_Ala91insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.106_107insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala35_Ala36insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.424_425insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala141_Ala142insValAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.546_547insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164780.1:c.372_373insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164781.1:c.699_700insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164782.1:c.61_62insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala20_Ala21insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.909_910insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_030660.4:c.744_745insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028453.1:n.892_893insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.727_728insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.946_947insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.781_782insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1037_1038insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.881_882insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1032_1033insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.407_408insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.890_891insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.869_870insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.581_582insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.879_880insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.901_902insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.527_528insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.893_894insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.725_726insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.739_740insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.197_198insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.394_395insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.864_865insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164774.2:c.226_227insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala75_Ala76insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.271_272insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala90_Ala91insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.106_107insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala35_Ala36insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.424_425insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala141_Ala142insValAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.546_547insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164780.2:c.372_373insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164782.2:c.61_62insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala20_Ala21insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.909_910insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_030660.5:c.744_745insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028453.2:n.853_854insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.688_689insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.907_908insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.742_743insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.998_999insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.842_843insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.993_994insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.368_369insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.851_852insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.830_831insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.542_543insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.840_841insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.862_863insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.488_489insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.854_855insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.686_687insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.700_701insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.158_159insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.355_356insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.756_757insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164781.2:c.699_700insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG