Canonical Allele Identifier: CA2998285639
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCGGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCGGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCGGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCGGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCGGCTGCTG NCBI36
NG_008198.2:g.40594_40595insCGCAGCAGCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*572_*573insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*572_*573insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554672.6:c.361_362insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.2:p.Gln120_Gln121insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*308_*309insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*308_*309insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556315.6:c.*572_*573insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*572_*573insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557030.6:c.*93_*94insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*93_*94insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557311.6:c.361_362insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.2:p.Gln120_Gln121insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.898_899insCGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select ENSP00000496695.1:p.Gln299_Gln300insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*93_*94insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000496590.1:n.*93_*94insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000647161.1:c.898_899insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000493680.1:p.Gln299_Gln300insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.733_734insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000339110.6:p.Gln244_Gln245insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*572_*573insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*572_*573insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000393287.9:c.745_746insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000376965.6:p.Gln248_Gln249insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.688_689insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000389376.3:p.Gln229_Gln230insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.361_362insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000425322.1:p.Gln120_Gln121insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.853_854insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000426697.1:p.Gln284_Gln285insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12241_117-12240insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000532032.5:c.898_899insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000437157.1:p.Gln299_Gln300insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.925_926insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000445618.2:p.Gln308_Gln309insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.636_637insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553309.5:n.932_933insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553488.5:c.*713_*714insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452461.1:n.*713_*714insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553491.5:c.745_746insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451996.1:p.Gln248_Gln249insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.821_822insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553570.5:c.*357_*358insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451405.1:n.*357_*358insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553686.5:n.779_780insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554040.5:n.502_503insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554214.5:n.681_682insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554350.5:c.*498_*499insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451103.1:n.*498_*499insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554491.5:n.974_975insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554592.5:c.895_896insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451385.1:p.Gln298_Gln299insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.604_605insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.1:p.Gln201_Gln202insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*357_*358insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451771.1:n.*357_*358insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000555381.5:c.688_689insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451001.1:p.Gln229_Gln230insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*405_*406insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451910.1:n.*405_*406insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000555958.5:n.767_768insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556082.5:c.*308_*309insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*308_*309insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556220.5:c.580_581insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450641.1:p.Gln193_Gln194insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*561_*562insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451733.1:n.*561_*562insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556288.5:c.*549_*550insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450566.1:n.*549_*550insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556315.5:c.*572_*573insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*572_*573insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556339.5:n.435_436insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556374.5:c.*626_*627insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451399.1:n.*626_*627insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556644.5:n.282_283insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556671.5:c.*476_*477insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451693.1:n.*476_*477insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556898.5:c.*395_*396insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451769.1:n.*395_*396insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556958.5:c.*357_*358insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452532.1:n.*357_*358insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557030.5:c.*93_*94insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*93_*94insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557311.5:c.361_362insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.1:p.Gln120_Gln121insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.898_899insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000478320.1:p.Gln299_Gln300insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*56_*57insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000481998.1:n.*56_*57insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000620536.4:c.925_926insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000484016.1:p.Gln308_Gln309insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCGGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.853_854insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln284_Gln285insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001127697.2:c.745_746insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln248_Gln249insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164774.1:c.215_216insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala72_Ala73insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.1:c.260_261insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala87_Ala88insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.1:c.95_96insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala32_Ala33insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.1:c.413_414insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala138_Ala139insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.1:c.535_536insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln178_Gln179insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164780.1:c.361_362insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln120_Gln121insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164781.1:c.688_689insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln229_Gln230insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164782.1:c.50_51insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala17_Ala18insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.5:c.898_899insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_004984.2:p.Gln299_Gln300insProGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.4:c.733_734insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln244_Gln245insProGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.1:n.881_882insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.1:n.716_717insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.1:n.935_936insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.1:n.770_771insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.1:n.1026_1027insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.1:n.870_871insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.1:n.1021_1022insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.1:n.396_397insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.1:n.879_880insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.1:n.858_859insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.1:n.570_571insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.1:n.868_869insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.1:n.890_891insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.1:n.516_517insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.1:n.882_883insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.1:n.714_715insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.1:n.728_729insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.1:n.186_187insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.1:n.383_384insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127696.2:c.853_854insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln284_Gln285insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164774.2:c.215_216insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala72_Ala73insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.2:c.260_261insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala87_Ala88insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.2:c.95_96insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala32_Ala33insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.2:c.413_414insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala138_Ala139insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.2:c.535_536insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln178_Gln179insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164780.2:c.361_362insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln120_Gln121insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164782.2:c.50_51insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala17_Ala18insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.6:c.898_899insCGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select NP_004984.2:p.Gln299_Gln300insProGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.5:c.733_734insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln244_Gln245insProGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.2:n.842_843insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.2:n.677_678insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.2:n.896_897insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.2:n.731_732insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.2:n.987_988insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.2:n.831_832insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.2:n.982_983insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.2:n.357_358insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.2:n.840_841insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.2:n.819_820insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.2:n.531_532insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.2:n.829_830insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.2:n.851_852insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.2:n.477_478insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.2:n.843_844insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.2:n.675_676insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.2:n.689_690insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.2:n.147_148insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.2:n.344_345insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127697.3:c.745_746insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln248_Gln249insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164781.2:c.688_689insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln229_Gln230insProGlnGlnGlnGlnGlnGlnGlnGln