Canonical Allele Identifier: CA2730195137
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTCCTGCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTCCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTCCTGCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTCCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTCCTGCTGCTGCTG NCBI36
NG_008198.2:g.40599_40600insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*577_*578insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*577_*578insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554672.6:c.366_367insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.2:p.Gln122_Gln123insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*313_*314insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*313_*314insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.6:c.*577_*578insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*577_*578insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.6:c.*98_*99insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*98_*99insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.6:c.366_367insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.2:p.Gln122_Gln123insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.903_904insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select ENSP00000496695.1:p.Gln301_Gln302insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*98_*99insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000496590.1:n.*98_*99insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000647161.1:c.903_904insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000493680.1:p.Gln301_Gln302insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.738_739insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000339110.6:p.Gln246_Gln247insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*577_*578insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*577_*578insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000393287.9:c.750_751insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000376965.6:p.Gln250_Gln251insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.693_694insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000389376.3:p.Gln231_Gln232insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.366_367insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000425322.1:p.Gln122_Gln123insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.858_859insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000426697.1:p.Gln286_Gln287insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12236_117-12235insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.903_904insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000437157.1:p.Gln301_Gln302insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.930_931insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000445618.2:p.Gln310_Gln311insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.641_642insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.937_938insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*718_*719insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*718_*719insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553491.5:c.750_751insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451996.1:p.Gln250_Gln251insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.826_827insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*362_*363insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*362_*363insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553686.5:n.784_785insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.507_508insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.686_687insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*503_*504insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*503_*504insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554491.5:n.979_980insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.900_901insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451385.1:p.Gln300_Gln301insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.609_610insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.1:p.Gln203_Gln204insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*362_*363insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*362_*363insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555381.5:c.693_694insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451001.1:p.Gln231_Gln232insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*410_*411insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*410_*411insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555958.5:n.772_773insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*313_*314insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*313_*314insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556220.5:c.585_586insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450641.1:p.Gln195_Gln196insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*566_*567insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*566_*567insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556288.5:c.*554_*555insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*554_*555insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.5:c.*577_*578insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*577_*578insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556339.5:n.440_441insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*631_*632insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*631_*632insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556644.5:n.287_288insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*481_*482insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*481_*482insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556898.5:c.*400_*401insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*400_*401insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556958.5:c.*362_*363insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*362_*363insGAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.5:c.*98_*99insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*98_*99insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.5:c.366_367insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.1:p.Gln122_Gln123insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.903_904insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000478320.1:p.Gln301_Gln302insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*61_*62insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*61_*62insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000620536.4:c.930_931insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000484016.1:p.Gln310_Gln311insGluGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTCCTGCTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.858_859insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln286_Gln287insGluGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.750_751insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln250_Gln251insGluGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.220_221insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala73_Ala74insGlyAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.265_266insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala88_Ala89insGlyAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.100_101insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala33_Ala34insGlyAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.418_419insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala139_Ala140insGlyAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.540_541insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln180_Gln181insGluGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.366_367insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln122_Gln123insGluGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.693_694insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln231_Gln232insGluGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.55_56insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala18_Ala19insGlyAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.903_904insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_004984.2:p.Gln301_Gln302insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.738_739insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln246_Gln247insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.886_887insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.721_722insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.940_941insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.775_776insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1031_1032insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.875_876insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1026_1027insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.401_402insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.884_885insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.863_864insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.575_576insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.873_874insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.895_896insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.521_522insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.887_888insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.719_720insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.733_734insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.191_192insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.388_389insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.858_859insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln286_Gln287insGluGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.220_221insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala73_Ala74insGlyAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.265_266insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala88_Ala89insGlyAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.100_101insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala33_Ala34insGlyAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.418_419insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala139_Ala140insGlyAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.540_541insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln180_Gln181insGluGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.366_367insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln122_Gln123insGluGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.55_56insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala18_Ala19insGlyAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.903_904insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select NP_004984.2:p.Gln301_Gln302insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.738_739insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln246_Gln247insGluGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.847_848insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.682_683insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.901_902insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.736_737insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.992_993insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.836_837insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.987_988insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.362_363insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.845_846insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.824_825insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.536_537insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.834_835insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.856_857insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.482_483insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.848_849insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.680_681insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.694_695insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.152_153insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.349_350insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.750_751insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln250_Gln251insGluGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.693_694insGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln231_Gln232insGluGlnGlnGlnGlnGlnGlnGlnGlnG...