Canonical Allele Identifier: CA965981509
Gene: ATXN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG NCBI36
NG_008198.2:g.40589_40590insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554672.6:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.2:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*303_*304insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*303_*304insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.6:c.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.6:c.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.6:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.2:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select ENSP00000496695.1:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000496590.1:n.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000647161.1:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000493680.1:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.728_729insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000339110.6:p.Gln243_Gln244insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000393287.9:c.740_741insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000376965.6:p.Gln247_Gln248insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.683_684insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000389376.3:p.Gln228_Gln229insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000425322.1:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.848_849insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000426697.1:p.Gln283_Gln284insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12246_117-12245insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000532032.5:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000437157.1:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.920_921insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000445618.2:p.Gln307_Gln308insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.631_632insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553309.5:n.927_928insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553488.5:c.*708_*709insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452461.1:n.*708_*709insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553491.5:c.740_741insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451996.1:p.Gln247_Gln248insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.816_817insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553570.5:c.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451405.1:n.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553686.5:n.774_775insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554040.5:n.497_498insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554214.5:n.676_677insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554350.5:c.*493_*494insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451103.1:n.*493_*494insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554491.5:n.969_970insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554592.5:c.890_891insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451385.1:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.599_600insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.1:p.Gln200_Gln201insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451771.1:n.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555381.5:c.683_684insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451001.1:p.Gln228_Gln229insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*400_*401insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451910.1:n.*400_*401insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555958.5:n.762_763insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556082.5:c.*303_*304insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*303_*304insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556220.5:c.575_576insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450641.1:p.Gln192_Gln193insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*556_*557insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451733.1:n.*556_*557insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556288.5:c.*544_*545insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450566.1:n.*544_*545insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.5:c.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556339.5:n.430_431insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556374.5:c.*621_*622insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451399.1:n.*621_*622insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556644.5:n.277_278insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556671.5:c.*471_*472insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451693.1:n.*471_*472insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556898.5:c.*390_*391insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451769.1:n.*390_*391insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556958.5:c.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452532.1:n.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.5:c.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.5:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.1:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000478320.1:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*51_*52insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000481998.1:n.*51_*52insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000620536.4:c.920_921insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000484016.1:p.Gln307_Gln308insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.848_849insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln283_Gln284insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.740_741insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln247_Gln248insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.210_211insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Thr70_Ala71insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.255_256insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Thr85_Ala86insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.90_91insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Thr30_Ala31insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.408_409insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Thr136_Ala137insThrAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.530_531insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln177_Gln178insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.683_684insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln228_Gln229insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.45_46insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Thr15_Ala16insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_004984.2:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.728_729insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln243_Gln244insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.876_877insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.1:n.711_712insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.1:n.930_931insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.1:n.765_766insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.1:n.1021_1022insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.1:n.865_866insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.1:n.1016_1017insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.1:n.391_392insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.1:n.874_875insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.1:n.853_854insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.1:n.565_566insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.1:n.863_864insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.1:n.885_886insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.1:n.511_512insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.1:n.877_878insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.1:n.709_710insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.1:n.723_724insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.1:n.181_182insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.1:n.378_379insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127696.2:c.848_849insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln283_Gln284insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.210_211insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Thr70_Ala71insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.255_256insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Thr85_Ala86insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.90_91insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Thr30_Ala31insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.408_409insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Thr136_Ala137insThrAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.530_531insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln177_Gln178insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.45_46insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Thr15_Ala16insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select NP_004984.2:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.728_729insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln243_Gln244insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.837_838insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.2:n.672_673insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.2:n.891_892insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.2:n.726_727insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.2:n.982_983insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.2:n.826_827insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.2:n.977_978insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.2:n.352_353insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.2:n.835_836insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.2:n.814_815insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.2:n.526_527insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.2:n.824_825insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.2:n.846_847insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.2:n.472_473insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.2:n.838_839insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.2:n.670_671insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.2:n.684_685insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.2:n.142_143insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.2:n.339_340insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127697.3:c.740_741insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln247_Gln248insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.683_684insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln228_Gln229insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...