Canonical Allele Identifier: CA2626175151
Gene: ATXN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071029_92071030insCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.2:g.92071029_92071030insCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh38
NC_000014.8:g.92537373_92537374insCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.1:g.92537373_92537374insCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh37
NC_000014.7:g.91607126_91607127insCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCGGCAGCA...
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGC...
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnArgG...
ENST00000624063.1:c.50_51insCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC ENSP00000485197.1:p.Ala17_Ala18insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnArgGlnG...
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnArgGlnG...
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnArgGlnG...
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgGlnG...
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnArgGlnG...
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgGlnGlnG...
NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnArgGlnGlnG...
NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnArgGlnG...
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGlnGlnGlnGlnArgGlnG...
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnArgGlnG...
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnArgGlnGlnG...
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnArgGlnGlnG...
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnArgGlnG...
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCAGCGGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnArgGlnG...