Canonical Allele Identifier: CA2626174962
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071011_92071012insAGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.2:g.92071011_92071012insAGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh38
NC_000014.8:g.92537355_92537356insAGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.1:g.92537355_92537356insAGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh37
NC_000014.7:g.91607108_91607109insAGCTGCTGCTGCTGCTGCTGCTGCTGC NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCAGCAGCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCTG MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAGCAGCAGCTG
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAGCAGCAGCTG ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnGlnL...
ENST00000624063.1:c.32_33insAGCTGCTGCTGCTGCTGCTGCTGCTGC ENSP00000485197.1:p.Pro11_Ala12insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCTG MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCAGCAGCTG
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnLeu
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCTG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnLeu