Canonical Allele Identifier: CA2802602390
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071029_92071030insAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.2:g.92071029_92071030insAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh38
NC_000014.8:g.92537373_92537374insAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.1:g.92537373_92537374insAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh37
NC_000014.7:g.91607126_91607127insAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCTGCAGCAGCA...
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGC...
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnLeuGlnG...
ENST00000624063.1:c.50_51insAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC ENSP00000485197.1:p.Ala17_Ala18insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnLeuGlnGlnGlnG...
NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnLeuGlnGlnGlnG...
NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnLeuGlnGlnGlnG...
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnLeuGlnGlnGlnG...
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnLeuGlnGlnG...