Canonical Allele Identifier: CA2626174913
Gene: ATXN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071015_92071016insACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT , CM000676.2:g.92071015_92071016insACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GRCh38
NC_000014.8:g.92537359_92537360insACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT , CM000676.1:g.92537359_92537360insACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GRCh37
NC_000014.7:g.91607112_91607113insACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
ENST00000624063.1:c.36_37insACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT ENSP00000485197.1:p.Ala12_Ala13insThrAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTAGCAG