Canonical Allele Identifier: CA2626174077
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGCTGCTG NCBI36
NG_008198.2:g.40595_40596insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*573_*574insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*573_*574insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554672.6:c.362_363insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.2:p.Gln120_Gln121insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*309_*310insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*309_*310insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.6:c.*573_*574insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*573_*574insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.6:c.*94_*95insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*94_*95insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.6:c.362_363insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.2:p.Gln120_Gln121insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.899_900insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select ENSP00000496695.1:p.Gln299_Gln300insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*94_*95insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000496590.1:n.*94_*95insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000647161.1:c.899_900insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000493680.1:p.Gln299_Gln300insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.734_735insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000339110.6:p.Gln244_Gln245insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*573_*574insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*573_*574insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000393287.9:c.746_747insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000376965.6:p.Gln248_Gln249insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.689_690insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000389376.3:p.Gln229_Gln230insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.362_363insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000425322.1:p.Gln120_Gln121insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.854_855insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000426697.1:p.Gln284_Gln285insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12240_117-12239insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000532032.5:c.899_900insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000437157.1:p.Gln299_Gln300insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.926_927insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000445618.2:p.Gln308_Gln309insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.637_638insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553309.5:n.933_934insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553488.5:c.*714_*715insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452461.1:n.*714_*715insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553491.5:c.746_747insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451996.1:p.Gln248_Gln249insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.822_823insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553570.5:c.*358_*359insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451405.1:n.*358_*359insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553686.5:n.780_781insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554040.5:n.503_504insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554214.5:n.682_683insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554350.5:c.*499_*500insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451103.1:n.*499_*500insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554491.5:n.975_976insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554592.5:c.896_897insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451385.1:p.Gln298_Gln299insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.605_606insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.1:p.Gln201_Gln202insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*358_*359insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451771.1:n.*358_*359insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555381.5:c.689_690insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451001.1:p.Gln229_Gln230insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*406_*407insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451910.1:n.*406_*407insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555958.5:n.768_769insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556082.5:c.*309_*310insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*309_*310insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556220.5:c.581_582insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450641.1:p.Gln193_Gln194insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*562_*563insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451733.1:n.*562_*563insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556288.5:c.*550_*551insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450566.1:n.*550_*551insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.5:c.*573_*574insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*573_*574insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556339.5:n.436_437insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556374.5:c.*627_*628insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451399.1:n.*627_*628insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556644.5:n.283_284insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556671.5:c.*477_*478insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451693.1:n.*477_*478insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556898.5:c.*396_*397insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451769.1:n.*396_*397insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556958.5:c.*358_*359insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452532.1:n.*358_*359insCCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.5:c.*94_*95insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*94_*95insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.5:c.362_363insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.1:p.Gln120_Gln121insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.899_900insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000478320.1:p.Gln299_Gln300insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*57_*58insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000481998.1:n.*57_*58insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000620536.4:c.926_927insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000484016.1:p.Gln308_Gln309insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.854_855insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln284_Gln285insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.746_747insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln248_Gln249insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.216_217insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Ala72_Ala73insProAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.261_262insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Ala87_Ala88insProAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.96_97insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Ala32_Ala33insProAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.414_415insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Ala138_Ala139insProAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.536_537insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln178_Gln179insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.362_363insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln120_Gln121insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.689_690insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln229_Gln230insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.51_52insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Ala17_Ala18insProAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.899_900insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_004984.2:p.Gln299_Gln300insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.734_735insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln244_Gln245insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.882_883insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.1:n.717_718insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.1:n.936_937insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.1:n.771_772insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.1:n.1027_1028insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.1:n.871_872insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.1:n.1022_1023insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.1:n.397_398insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.1:n.880_881insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.1:n.859_860insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.1:n.571_572insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.1:n.869_870insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.1:n.891_892insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.1:n.517_518insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.1:n.883_884insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.1:n.715_716insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.1:n.729_730insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.1:n.187_188insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.1:n.384_385insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127696.2:c.854_855insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln284_Gln285insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.216_217insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Ala72_Ala73insProAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.261_262insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Ala87_Ala88insProAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.96_97insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Ala32_Ala33insProAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.414_415insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Ala138_Ala139insProAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.536_537insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln178_Gln179insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.362_363insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln120_Gln121insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.51_52insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Ala17_Ala18insProAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.899_900insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select NP_004984.2:p.Gln299_Gln300insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.734_735insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln244_Gln245insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.843_844insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.2:n.678_679insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.2:n.897_898insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.2:n.732_733insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.2:n.988_989insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.2:n.832_833insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.2:n.983_984insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.2:n.358_359insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.2:n.841_842insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.2:n.820_821insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.2:n.532_533insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.2:n.830_831insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.2:n.852_853insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.2:n.478_479insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.2:n.844_845insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.2:n.676_677insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.2:n.690_691insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.2:n.148_149insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.2:n.345_346insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127697.3:c.746_747insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln248_Gln249insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.689_690insCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln229_Gln230insHisGlnGlnGlnGlnGlnGlnGlnGlnG...