Canonical Allele Identifier: CA2626174545
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071013_92071014insTTGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071013_92071014insTTGCTGCTGCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537357_92537358insTTGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537357_92537358insTTGCTGCTGCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607110_91607111insTTGCTGCTGCTGCTGCTGCTG NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAACAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAACAG
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAACAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAACAG
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAACAG ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGln
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAACAG MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGln
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAACAG ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGln
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAACAG ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGln
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAACAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAACAG
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAACAG ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGln
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAACAG ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGln
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAACAG ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGln
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAACAG ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGln
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAACAG
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAACAG ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGln
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAACAG ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGln
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAACAG
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAACAG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAACAG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAACAG
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAACAG ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGln
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAACAG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAACAG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAACAG
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAACAG
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAACAG
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAACAG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAACAG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAACAG
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAACAG
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAACAG ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGlnGln
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAACAG ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGlnGln
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAACAG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAACAG
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAACAG ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGln
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAACAG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAACAG
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAACAG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAACAG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAACAG
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAACAG ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGlnGln
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAACAG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAACAG
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAACAG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAACAG
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAACAG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAACAG
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAACAG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAACAG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAACAG
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAACAG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAACAG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAACAG
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAACAG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAACAG
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAACAG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAACAG
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAACAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAACAG
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAACAG ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGln
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAACAG ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGln
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAACAG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAACAG
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAACAG ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGln
ENST00000624063.1:c.34_35insTTGCTGCTGCTGCTGCTGCTG ENSP00000485197.1:p.Pro11_Ala12insValAlaAlaAlaAlaAlaAla
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAACAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGln
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAACAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGln
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAACAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaThr
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAACAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaThr
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAACAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaThr
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAACAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaThr
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAACAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGln
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAACAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGln
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAACAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGln
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAACAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaThr
NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAACAG NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGln
NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAACAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGln
NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAACAG
NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAACAG
NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAACAG
NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAACAG
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAACAG
NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAACAG
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAACAG
NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAACAG
NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAACAG
NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAACAG
NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAACAG
NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAACAG
NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAACAG
NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAACAG
NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAACAG
NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAACAG
NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAACAG
NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAACAG
NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAACAG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAACAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGln
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAACAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaThr
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAACAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaThr
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAACAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaThr
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAACAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaThr
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAACAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGln
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAACAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGln
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAACAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaThr
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAACAG MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGln
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAACAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGln
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAACAG
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAACAG
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAACAG
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAACAG
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAACAG
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAACAG
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAACAG
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAACAG
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAACAG
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAACAG
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAACAG
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAACAG
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAACAG
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAACAG
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAACAG
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAACAG
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAACAG
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAACAG
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAACAG
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAACAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGln
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAACAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGln