Canonical Allele Identifier: CA2626174102
Gene: ATXN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTG NCBI36
NG_008198.2:g.40593_40594insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*571_*572insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*571_*572insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554672.6:c.360_361insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.2:p.Gln120_Gln121insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*307_*308insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*307_*308insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.6:c.*571_*572insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*571_*572insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.6:c.*92_*93insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*92_*93insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.6:c.360_361insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.2:p.Gln120_Gln121insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.897_898insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select ENSP00000496695.1:p.Gln299_Gln300insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*92_*93insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000496590.1:n.*92_*93insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000647161.1:c.897_898insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000493680.1:p.Gln299_Gln300insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.732_733insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000339110.6:p.Gln244_Gln245insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*571_*572insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*571_*572insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000393287.9:c.744_745insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000376965.6:p.Gln248_Gln249insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.687_688insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000389376.3:p.Gln229_Gln230insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.360_361insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000425322.1:p.Gln120_Gln121insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.852_853insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000426697.1:p.Gln284_Gln285insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12242_117-12241insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.897_898insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000437157.1:p.Gln299_Gln300insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.924_925insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000445618.2:p.Gln308_Gln309insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.635_636insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.931_932insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*712_*713insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*712_*713insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553491.5:c.744_745insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451996.1:p.Gln248_Gln249insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.820_821insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*356_*357insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*356_*357insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553686.5:n.778_779insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.501_502insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.680_681insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*497_*498insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*497_*498insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554491.5:n.973_974insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.894_895insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451385.1:p.Gln298_Gln299insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.603_604insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.1:p.Gln201_Gln202insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*356_*357insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*356_*357insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555381.5:c.687_688insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451001.1:p.Gln229_Gln230insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*404_*405insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*404_*405insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555958.5:n.766_767insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*307_*308insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*307_*308insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556220.5:c.579_580insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450641.1:p.Gln193_Gln194insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*560_*561insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*560_*561insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556288.5:c.*548_*549insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*548_*549insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.5:c.*571_*572insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*571_*572insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556339.5:n.434_435insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*625_*626insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*625_*626insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556644.5:n.281_282insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*475_*476insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*475_*476insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556898.5:c.*394_*395insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*394_*395insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556958.5:c.*356_*357insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*356_*357insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.5:c.*92_*93insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*92_*93insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.5:c.360_361insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.1:p.Gln120_Gln121insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.897_898insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000478320.1:p.Gln299_Gln300insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*55_*56insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*55_*56insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000620536.4:c.924_925insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000484016.1:p.Gln308_Gln309insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.852_853insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln284_Gln285insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.744_745insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln248_Gln249insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.214_215insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala71_Ala72insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.259_260insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala86_Ala87insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.94_95insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala31_Ala32insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.412_413insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala137_Ala138insGluAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.534_535insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln178_Gln179insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.360_361insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln120_Gln121insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.687_688insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln229_Gln230insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.49_50insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala16_Ala17insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.897_898insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_004984.2:p.Gln299_Gln300insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.732_733insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln244_Gln245insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.880_881insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.715_716insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.934_935insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.769_770insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1025_1026insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.869_870insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1020_1021insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.395_396insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.878_879insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.857_858insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.569_570insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.867_868insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.889_890insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.515_516insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.881_882insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.713_714insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.727_728insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.185_186insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.382_383insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.852_853insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln284_Gln285insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.214_215insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala71_Ala72insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.259_260insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala86_Ala87insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.94_95insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala31_Ala32insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.412_413insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala137_Ala138insGluAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.534_535insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln178_Gln179insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.360_361insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln120_Gln121insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.49_50insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala16_Ala17insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.897_898insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select NP_004984.2:p.Gln299_Gln300insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.732_733insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln244_Gln245insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.841_842insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.676_677insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.895_896insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.730_731insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.986_987insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.830_831insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.981_982insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.356_357insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.839_840insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.818_819insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.530_531insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.828_829insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.850_851insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.476_477insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.842_843insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.674_675insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.688_689insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.146_147insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.343_344insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.744_745insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln248_Gln249insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.687_688insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln229_Gln230insLysGlnGlnGlnGlnGlnGlnGlnGlnG...