Canonical Allele Identifier: CA965981320
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTG NCBI36
NG_008198.2:g.40608_40609insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*586_*587insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*586_*587insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554672.6:c.375_376insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.6:c.*322_*323insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*322_*323insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.6:c.*586_*587insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*586_*587insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.6:c.*107_*108insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*107_*108insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.6:c.375_376insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000644486.2:c.912_913insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000646485.1:c.*107_*108insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000496590.1:n.*107_*108insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000647161.1:c.912_913insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000340660.10:c.747_748insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000359366.9:c.*586_*587insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*586_*587insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000393287.9:c.759_760insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000429774.6:c.702_703insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000502250.5:c.375_376insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000503767.5:c.867_868insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000526245.1:n.117-12227_117-12226insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.912_913insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000545170.5:c.939_940insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553287.5:n.650_651insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.946_947insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*727_*728insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*727_*728insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553491.5:c.759_760insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553498.5:n.835_836insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*371_*372insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*371_*372insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553686.5:n.793_794insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.516_517insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.695_696insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*512_*513insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*512_*513insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554491.5:n.988_989insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.909_910insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554672.5:c.618_619insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554994.5:c.*371_*372insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*371_*372insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555381.5:c.702_703insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000555816.5:c.*419_*420insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*419_*420insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555958.5:n.781_782insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*322_*323insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*322_*323insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556220.5:c.594_595insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556274.5:c.*575_*576insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*575_*576insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556288.5:c.*563_*564insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*563_*564insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.5:c.*586_*587insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*586_*587insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556339.5:n.449_450insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*640_*641insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*640_*641insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556644.5:n.296_297insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*490_*491insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*490_*491insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556898.5:c.*409_*410insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*409_*410insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556958.5:c.*371_*372insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*371_*372insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.5:c.*107_*108insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*107_*108insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.5:c.375_376insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000558190.5:c.912_913insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000617719.4:c.*70_*71insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*70_*71insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000620536.4:c.939_940insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.867_868insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.2:c.759_760insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164774.1:c.229_230insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala76_Ala77insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.274_275insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala91_Ala92insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.109_110insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala36_Ala37insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.427_428insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala142_Ala143insValAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.549_550insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164780.1:c.375_376insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164781.1:c.702_703insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164782.1:c.64_65insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala21_Ala22insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.912_913insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_030660.4:c.747_748insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028453.1:n.895_896insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.730_731insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.949_950insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.784_785insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1040_1041insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.884_885insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1035_1036insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.410_411insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.893_894insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.872_873insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.584_585insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.882_883insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.904_905insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.530_531insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.896_897insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.728_729insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.742_743insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.200_201insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.397_398insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.867_868insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164774.2:c.229_230insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala76_Ala77insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.274_275insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala91_Ala92insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.109_110insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala36_Ala37insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.427_428insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala142_Ala143insValAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.549_550insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164780.2:c.375_376insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164782.2:c.64_65insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala21_Ala22insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.912_913insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_030660.5:c.747_748insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028453.2:n.856_857insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.691_692insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.910_911insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.745_746insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.1001_1002insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.845_846insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.996_997insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.371_372insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.854_855insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.833_834insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.545_546insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.843_844insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.865_866insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.491_492insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.857_858insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.689_690insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.703_704insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.161_162insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.358_359insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.759_760insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164781.2:c.702_703insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG