Canonical Allele Identifier: CA2998285531
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071026_92071027insCGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.2:g.92071026_92071027insCGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh38
NC_000014.8:g.92537370_92537371insCGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.1:g.92537370_92537371insCGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh37
NC_000014.7:g.91607123_91607124insCGCTGCTGCTGCTGCTGCTGCTGCTGC NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCGGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000557030.6:c.*110_*111insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000557311.6:c.378_379insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000644486.2:c.915_916insCAGCAGCAGCGGCAGCAGCAGCAGCAG MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000647161.1:c.915_916insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000340660.10:c.750_751insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000359366.9:c.*589_*590insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000393287.9:c.762_763insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000429774.6:c.705_706insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000502250.5:c.378_379insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000503767.5:c.870_871insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000532032.5:c.915_916insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000545170.5:c.942_943insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000553287.5:n.653_654insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000553309.5:n.949_950insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000553491.5:c.762_763insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000553498.5:n.838_839insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000553686.5:n.796_797insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000554040.5:n.519_520insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000554214.5:n.698_699insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000554491.5:n.991_992insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000554592.5:c.912_913insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000554672.5:c.621_622insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000554994.5:c.*374_*375insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000555381.5:c.705_706insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000555816.5:c.*422_*423insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000555958.5:n.784_785insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556220.5:c.597_598insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000556274.5:c.*578_*579insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556288.5:c.*566_*567insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556315.5:c.*589_*590insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556339.5:n.452_453insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556644.5:n.299_300insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556898.5:c.*412_*413insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000556958.5:c.*374_*375insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000557030.5:c.*110_*111insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000557311.5:c.378_379insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000558190.5:c.915_916insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000617719.4:c.*73_*74insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCGGCAGCAGCAGCAGCAG
ENST00000620536.4:c.942_943insCAGCAGCAGCGGCAGCAGCAGCAGCAG ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnArgGlnGlnGlnGlnG...
ENST00000624063.1:c.47_48insCGCTGCTGCTGCTGCTGCTGCTGCTGC ENSP00000485197.1:p.Ala16_Ala17insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.870_871insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_001127697.2:c.762_763insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_001164774.1:c.232_233insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.1:c.277_278insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.1:c.112_113insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.1:c.430_431insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.1:c.552_553insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_001164780.1:c.378_379insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_001164781.1:c.705_706insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_001164782.1:c.67_68insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.5:c.915_916insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_004984.2:p.Gln305_Gly306insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_030660.4:c.750_751insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnArgGlnGlnGlnGlnGln
NR_028453.1:n.898_899insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028454.1:n.733_734insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028455.1:n.952_953insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028456.1:n.787_788insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028457.1:n.1043_1044insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028458.1:n.887_888insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028459.1:n.1038_1039insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028460.1:n.413_414insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028461.1:n.896_897insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028462.1:n.875_876insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028463.1:n.587_588insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028464.1:n.885_886insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028465.1:n.907_908insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028466.1:n.533_534insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028467.1:n.899_900insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028468.1:n.731_732insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028469.1:n.745_746insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028470.1:n.203_204insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_031765.1:n.400_401insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NM_001127696.2:c.870_871insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_001164774.2:c.232_233insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.2:c.277_278insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.2:c.112_113insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.2:c.430_431insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.2:c.552_553insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_001164780.2:c.378_379insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_001164782.2:c.67_68insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.6:c.915_916insCAGCAGCAGCGGCAGCAGCAGCAGCAG MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_030660.5:c.750_751insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnArgGlnGlnGlnGlnGln
NR_028453.2:n.859_860insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028454.2:n.694_695insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028455.2:n.913_914insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028456.2:n.748_749insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028457.2:n.1004_1005insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028458.2:n.848_849insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028459.2:n.999_1000insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028460.2:n.374_375insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028461.2:n.857_858insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028462.2:n.836_837insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028463.2:n.548_549insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028464.2:n.846_847insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028465.2:n.868_869insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028466.2:n.494_495insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028467.2:n.860_861insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028468.2:n.692_693insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028469.2:n.706_707insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_028470.2:n.164_165insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NR_031765.2:n.361_362insCAGCAGCAGCGGCAGCAGCAGCAGCAG
NM_001127697.3:c.762_763insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnArgGlnGlnGlnGlnGln
NM_001164781.2:c.705_706insCAGCAGCAGCGGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnArgGlnGlnGlnGlnGln