Canonical Allele Identifier: CA249298
Gene: ATXN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 218660
dbSNP Id: rs193922928

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...