Canonical Allele Identifier: CA2155256303
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071014_92071015insCGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.2:g.92071014_92071015insCGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh38
NC_000014.8:g.92537358_92537359insCGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.1:g.92537358_92537359insCGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh37
NC_000014.7:g.91607111_91607112insCGCTGCTGCTGCTGCTGCTGCTGCTGC NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCAGCGGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAG MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAGCAGCGGCAG
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAGCAGCGGCAG ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000624063.1:c.35_36insCGCTGCTGCTGCTGCTGCTGCTGCTGC ENSP00000485197.1:p.Ala12_Ala13insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnArgGln
NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAG MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnArgGln
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCAGCGGCAG
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnArgGln
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCAGCGGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnArgGln