Canonical Allele Identifier: CA2626174544
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071013_92071014insTTGCTGCTGCTGCTGCTG , CM000676.2:g.92071013_92071014insTTGCTGCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537357_92537358insTTGCTGCTGCTGCTGCTG , CM000676.1:g.92537357_92537358insTTGCTGCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607110_91607111insTTGCTGCTGCTGCTGCTG NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAACAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAACAG
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAACAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAACAG
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAACAG ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnGlnGlnGln
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAACAG MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGln
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAACAG ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGln
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAACAG ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGln
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAACAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAACAG
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAACAG ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnGlnGlnGln
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAACAG ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnGlnGlnGln
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAACAG ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGln
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAACAG ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGln
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAACAG
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAACAG ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGln
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAACAG ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnGlnGlnGln
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAACAG
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAACAG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAACAG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAACAG
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAACAG ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGln
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAACAG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAACAG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAACAG
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAACAG
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAACAG
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAACAG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAACAG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAACAG
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAACAG
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAACAG ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGln
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAACAG ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGln
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAACAG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAACAG
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAACAG ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGln
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAACAG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAACAG
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAACAG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAACAG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAACAG
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAACAG ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGln
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAACAG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAACAG
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAACAG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAACAG
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAACAG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAACAG
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAACAG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAACAG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAACAG
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAACAG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAACAG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAACAG
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAACAG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAACAG
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAACAG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAACAG
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAACAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAACAG
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAACAG ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGln
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAACAG ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGln
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAACAG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAACAG
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAACAG ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGln
ENST00000624063.1:c.34_35insTTGCTGCTGCTGCTGCTG ENSP00000485197.1:p.Pro11_Ala12insValAlaAlaAlaAlaAla
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAACAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGln
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAACAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGln
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAACAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaThr
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAACAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaThr
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAACAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaThr
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAACAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaThr
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAACAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGln
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAACAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGln
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAACAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGln
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAACAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaThr
NM_004993.5:c.915_916insCAGCAGCAGCAGCAACAG NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGln
NM_030660.4:c.750_751insCAGCAGCAGCAGCAACAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGln
NR_028453.1:n.898_899insCAGCAGCAGCAGCAACAG
NR_028454.1:n.733_734insCAGCAGCAGCAGCAACAG
NR_028455.1:n.952_953insCAGCAGCAGCAGCAACAG
NR_028456.1:n.787_788insCAGCAGCAGCAGCAACAG
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAACAG
NR_028458.1:n.887_888insCAGCAGCAGCAGCAACAG
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAACAG
NR_028460.1:n.413_414insCAGCAGCAGCAGCAACAG
NR_028461.1:n.896_897insCAGCAGCAGCAGCAACAG
NR_028462.1:n.875_876insCAGCAGCAGCAGCAACAG
NR_028463.1:n.587_588insCAGCAGCAGCAGCAACAG
NR_028464.1:n.885_886insCAGCAGCAGCAGCAACAG
NR_028465.1:n.907_908insCAGCAGCAGCAGCAACAG
NR_028466.1:n.533_534insCAGCAGCAGCAGCAACAG
NR_028467.1:n.899_900insCAGCAGCAGCAGCAACAG
NR_028468.1:n.731_732insCAGCAGCAGCAGCAACAG
NR_028469.1:n.745_746insCAGCAGCAGCAGCAACAG
NR_028470.1:n.203_204insCAGCAGCAGCAGCAACAG
NR_031765.1:n.400_401insCAGCAGCAGCAGCAACAG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAACAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGln
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAACAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaThr
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAACAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaThr
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAACAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaThr
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAACAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaThr
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAACAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGln
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAACAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGln
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAACAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaThr
NM_004993.6:c.915_916insCAGCAGCAGCAGCAACAG MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGln
NM_030660.5:c.750_751insCAGCAGCAGCAGCAACAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGln
NR_028453.2:n.859_860insCAGCAGCAGCAGCAACAG
NR_028454.2:n.694_695insCAGCAGCAGCAGCAACAG
NR_028455.2:n.913_914insCAGCAGCAGCAGCAACAG
NR_028456.2:n.748_749insCAGCAGCAGCAGCAACAG
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAACAG
NR_028458.2:n.848_849insCAGCAGCAGCAGCAACAG
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAACAG
NR_028460.2:n.374_375insCAGCAGCAGCAGCAACAG
NR_028461.2:n.857_858insCAGCAGCAGCAGCAACAG
NR_028462.2:n.836_837insCAGCAGCAGCAGCAACAG
NR_028463.2:n.548_549insCAGCAGCAGCAGCAACAG
NR_028464.2:n.846_847insCAGCAGCAGCAGCAACAG
NR_028465.2:n.868_869insCAGCAGCAGCAGCAACAG
NR_028466.2:n.494_495insCAGCAGCAGCAGCAACAG
NR_028467.2:n.860_861insCAGCAGCAGCAGCAACAG
NR_028468.2:n.692_693insCAGCAGCAGCAGCAACAG
NR_028469.2:n.706_707insCAGCAGCAGCAGCAACAG
NR_028470.2:n.164_165insCAGCAGCAGCAGCAACAG
NR_031765.2:n.361_362insCAGCAGCAGCAGCAACAG
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAACAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGln
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAACAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGln