Canonical Allele Identifier: CA2626174979
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071014_92071015insAGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.2:g.92071014_92071015insAGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh38
NC_000014.8:g.92537358_92537359insAGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.1:g.92537358_92537359insAGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh37
NC_000014.7:g.91607111_91607112insAGCTGCTGCTGCTGCTGCTGCTGCTGC NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCAGCTGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAGCAGCTGCAG MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAGCAGCTGCAG
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAGCAGCTGCAG ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnLeuG...
ENST00000624063.1:c.35_36insAGCTGCTGCTGCTGCTGCTGCTGCTGC ENSP00000485197.1:p.Ala12_Ala13insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnLeuGln
NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCAGCTGCAG MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnLeuGln
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCAGCTGCAG
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnLeuGln
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCAGCTGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnLeuGln