Canonical Allele Identifier: CA2626174093
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCAGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCAGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCAGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCAGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCAGCTGCTG NCBI36
NG_008198.2:g.40594_40595insTGCAGCAGCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*572_*573insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*572_*573insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554672.6:c.361_362insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.2:p.Gln120_Gln121insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*308_*309insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*308_*309insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556315.6:c.*572_*573insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*572_*573insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557030.6:c.*93_*94insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*93_*94insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557311.6:c.361_362insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.2:p.Gln120_Gln121insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.898_899insTGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select ENSP00000496695.1:p.Gln299_Gln300insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*93_*94insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000496590.1:n.*93_*94insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000647161.1:c.898_899insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000493680.1:p.Gln299_Gln300insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.733_734insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000339110.6:p.Gln244_Gln245insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*572_*573insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*572_*573insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000393287.9:c.745_746insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000376965.6:p.Gln248_Gln249insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.688_689insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000389376.3:p.Gln229_Gln230insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.361_362insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000425322.1:p.Gln120_Gln121insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.853_854insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000426697.1:p.Gln284_Gln285insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12241_117-12240insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000532032.5:c.898_899insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000437157.1:p.Gln299_Gln300insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.925_926insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000445618.2:p.Gln308_Gln309insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.636_637insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553309.5:n.932_933insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553488.5:c.*713_*714insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452461.1:n.*713_*714insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553491.5:c.745_746insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451996.1:p.Gln248_Gln249insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.821_822insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553570.5:c.*357_*358insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451405.1:n.*357_*358insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553686.5:n.779_780insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554040.5:n.502_503insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554214.5:n.681_682insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554350.5:c.*498_*499insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451103.1:n.*498_*499insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554491.5:n.974_975insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554592.5:c.895_896insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451385.1:p.Gln298_Gln299insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.604_605insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.1:p.Gln201_Gln202insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*357_*358insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451771.1:n.*357_*358insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000555381.5:c.688_689insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451001.1:p.Gln229_Gln230insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*405_*406insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451910.1:n.*405_*406insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000555958.5:n.767_768insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556082.5:c.*308_*309insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*308_*309insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556220.5:c.580_581insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450641.1:p.Gln193_Gln194insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*561_*562insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451733.1:n.*561_*562insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556288.5:c.*549_*550insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450566.1:n.*549_*550insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556315.5:c.*572_*573insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*572_*573insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556339.5:n.435_436insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556374.5:c.*626_*627insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451399.1:n.*626_*627insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556644.5:n.282_283insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556671.5:c.*476_*477insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451693.1:n.*476_*477insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556898.5:c.*395_*396insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451769.1:n.*395_*396insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556958.5:c.*357_*358insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452532.1:n.*357_*358insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557030.5:c.*93_*94insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*93_*94insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557311.5:c.361_362insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.1:p.Gln120_Gln121insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.898_899insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000478320.1:p.Gln299_Gln300insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*56_*57insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000481998.1:n.*56_*57insTGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000620536.4:c.925_926insTGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000484016.1:p.Gln308_Gln309insLeuGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCAGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.853_854insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln284_Gln285insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_001127697.2:c.745_746insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln248_Gln249insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_001164774.1:c.215_216insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala72_Ala73insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.1:c.260_261insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala87_Ala88insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.1:c.95_96insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala32_Ala33insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.1:c.413_414insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala138_Ala139insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.1:c.535_536insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln178_Gln179insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_001164780.1:c.361_362insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln120_Gln121insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_001164781.1:c.688_689insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln229_Gln230insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_001164782.1:c.50_51insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala17_Ala18insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.5:c.898_899insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_004984.2:p.Gln299_Gln300insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.4:c.733_734insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln244_Gln245insLeuGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.1:n.881_882insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.1:n.716_717insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.1:n.935_936insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.1:n.770_771insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.1:n.1026_1027insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.1:n.870_871insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.1:n.1021_1022insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.1:n.396_397insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.1:n.879_880insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.1:n.858_859insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.1:n.570_571insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.1:n.868_869insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.1:n.890_891insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.1:n.516_517insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.1:n.882_883insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.1:n.714_715insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.1:n.728_729insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.1:n.186_187insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.1:n.383_384insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127696.2:c.853_854insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln284_Gln285insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_001164774.2:c.215_216insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala72_Ala73insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.2:c.260_261insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala87_Ala88insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.2:c.95_96insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala32_Ala33insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.2:c.413_414insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala138_Ala139insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.2:c.535_536insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln178_Gln179insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_001164780.2:c.361_362insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln120_Gln121insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_001164782.2:c.50_51insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala17_Ala18insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.6:c.898_899insTGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select NP_004984.2:p.Gln299_Gln300insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.5:c.733_734insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln244_Gln245insLeuGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.2:n.842_843insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.2:n.677_678insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.2:n.896_897insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.2:n.731_732insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.2:n.987_988insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.2:n.831_832insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.2:n.982_983insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.2:n.357_358insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.2:n.840_841insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.2:n.819_820insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.2:n.531_532insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.2:n.829_830insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.2:n.851_852insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.2:n.477_478insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.2:n.843_844insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.2:n.675_676insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.2:n.689_690insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.2:n.147_148insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.2:n.344_345insTGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127697.3:c.745_746insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln248_Gln249insLeuGlnGlnGlnGlnGlnGlnGlnGln
NM_001164781.2:c.688_689insTGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln229_Gln230insLeuGlnGlnGlnGlnGlnGlnGlnGln