Canonical Allele Identifier: CA616113124
Gene: ATXN3 HGNC NCBI

Linked Data

dbSNP Id: rs1222741351

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTG NCBI36
NG_008198.2:g.40592_40593insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*570_*571insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*570_*571insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554672.6:c.359_360insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.2:p.Gln120_Gln121insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*306_*307insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*306_*307insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.6:c.*570_*571insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*570_*571insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.6:c.*91_*92insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*91_*92insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.6:c.359_360insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.2:p.Gln120_Gln121insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.896_897insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select ENSP00000496695.1:p.Gln299_Gln300insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*91_*92insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000496590.1:n.*91_*92insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000647161.1:c.896_897insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000493680.1:p.Gln299_Gln300insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.731_732insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000339110.6:p.Gln244_Gln245insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*570_*571insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*570_*571insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000393287.9:c.743_744insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000376965.6:p.Gln248_Gln249insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.686_687insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000389376.3:p.Gln229_Gln230insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.359_360insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000425322.1:p.Gln120_Gln121insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.851_852insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000426697.1:p.Gln284_Gln285insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12243_117-12242insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000532032.5:c.896_897insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000437157.1:p.Gln299_Gln300insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.923_924insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000445618.2:p.Gln308_Gln309insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.634_635insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553309.5:n.930_931insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553488.5:c.*711_*712insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452461.1:n.*711_*712insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553491.5:c.743_744insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451996.1:p.Gln248_Gln249insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.819_820insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553570.5:c.*355_*356insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451405.1:n.*355_*356insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553686.5:n.777_778insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554040.5:n.500_501insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554214.5:n.679_680insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554350.5:c.*496_*497insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451103.1:n.*496_*497insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554491.5:n.972_973insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554592.5:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451385.1:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.602_603insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.1:p.Gln201_Gln202insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*355_*356insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451771.1:n.*355_*356insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555381.5:c.686_687insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451001.1:p.Gln229_Gln230insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*403_*404insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451910.1:n.*403_*404insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555958.5:n.765_766insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556082.5:c.*306_*307insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*306_*307insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556220.5:c.578_579insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450641.1:p.Gln193_Gln194insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*559_*560insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451733.1:n.*559_*560insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556288.5:c.*547_*548insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450566.1:n.*547_*548insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.5:c.*570_*571insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*570_*571insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556339.5:n.433_434insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556374.5:c.*624_*625insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451399.1:n.*624_*625insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556644.5:n.280_281insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556671.5:c.*474_*475insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451693.1:n.*474_*475insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556898.5:c.*393_*394insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451769.1:n.*393_*394insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556958.5:c.*355_*356insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452532.1:n.*355_*356insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.5:c.*91_*92insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*91_*92insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.5:c.359_360insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.1:p.Gln120_Gln121insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.896_897insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000478320.1:p.Gln299_Gln300insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*54_*55insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000481998.1:n.*54_*55insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000620536.4:c.923_924insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000484016.1:p.Gln308_Gln309insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.851_852insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln284_Gln285insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.743_744insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln248_Gln249insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.213_214insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Ala71_Ala72insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.258_259insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Ala86_Ala87insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.93_94insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Ala31_Ala32insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.411_412insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Ala137_Ala138insThrAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.533_534insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln178_Gln179insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.359_360insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln120_Gln121insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.686_687insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln229_Gln230insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.48_49insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Ala16_Ala17insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.896_897insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_004984.2:p.Gln299_Gln300insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.731_732insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln244_Gln245insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.879_880insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.1:n.714_715insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.1:n.933_934insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.1:n.768_769insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.1:n.1024_1025insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.1:n.868_869insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.1:n.1019_1020insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.1:n.394_395insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.1:n.877_878insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.1:n.856_857insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.1:n.568_569insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.1:n.866_867insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.1:n.888_889insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.1:n.514_515insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.1:n.880_881insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.1:n.712_713insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.1:n.726_727insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.1:n.184_185insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.1:n.381_382insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127696.2:c.851_852insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln284_Gln285insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.213_214insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Ala71_Ala72insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.258_259insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Ala86_Ala87insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.93_94insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Ala31_Ala32insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.411_412insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Ala137_Ala138insThrAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.533_534insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln178_Gln179insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.359_360insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln120_Gln121insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.48_49insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Ala16_Ala17insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.896_897insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select NP_004984.2:p.Gln299_Gln300insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.731_732insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln244_Gln245insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.840_841insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.2:n.675_676insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.2:n.894_895insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.2:n.729_730insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.2:n.985_986insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.2:n.829_830insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.2:n.980_981insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.2:n.355_356insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.2:n.838_839insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.2:n.817_818insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.2:n.529_530insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.2:n.827_828insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.2:n.849_850insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.2:n.475_476insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.2:n.841_842insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.2:n.673_674insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.2:n.687_688insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.2:n.145_146insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.2:n.342_343insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127697.3:c.743_744insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln248_Gln249insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.686_687insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln229_Gln230insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...