Canonical Allele Identifier: CA616113129
Gene: ATXN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG NCBI36
NG_008198.2:g.40589_40590insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554672.6:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.2:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*303_*304insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*303_*304insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.6:c.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.6:c.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.6:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.2:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select ENSP00000496695.1:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000496590.1:n.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000647161.1:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000493680.1:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.728_729insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000339110.6:p.Gln243_Gln244insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000393287.9:c.740_741insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000376965.6:p.Gln247_Gln248insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.683_684insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000389376.3:p.Gln228_Gln229insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000425322.1:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.848_849insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000426697.1:p.Gln283_Gln284insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12246_117-12245insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000532032.5:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000437157.1:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.920_921insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000445618.2:p.Gln307_Gln308insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.631_632insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553309.5:n.927_928insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553488.5:c.*708_*709insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452461.1:n.*708_*709insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553491.5:c.740_741insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451996.1:p.Gln247_Gln248insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.816_817insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553570.5:c.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451405.1:n.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553686.5:n.774_775insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554040.5:n.497_498insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554214.5:n.676_677insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554350.5:c.*493_*494insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451103.1:n.*493_*494insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554491.5:n.969_970insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554592.5:c.890_891insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451385.1:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.599_600insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.1:p.Gln200_Gln201insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451771.1:n.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555381.5:c.683_684insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451001.1:p.Gln228_Gln229insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*400_*401insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451910.1:n.*400_*401insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555958.5:n.762_763insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556082.5:c.*303_*304insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*303_*304insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556220.5:c.575_576insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450641.1:p.Gln192_Gln193insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*556_*557insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451733.1:n.*556_*557insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556288.5:c.*544_*545insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450566.1:n.*544_*545insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.5:c.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*567_*568insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556339.5:n.430_431insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556374.5:c.*621_*622insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451399.1:n.*621_*622insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556644.5:n.277_278insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556671.5:c.*471_*472insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451693.1:n.*471_*472insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556898.5:c.*390_*391insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451769.1:n.*390_*391insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556958.5:c.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452532.1:n.*352_*353insACAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.5:c.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*88_*89insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.5:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.1:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000478320.1:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*51_*52insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000481998.1:n.*51_*52insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000620536.4:c.920_921insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000484016.1:p.Gln307_Gln308insGlnGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.848_849insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln283_Gln284insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.740_741insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln247_Gln248insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.210_211insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Thr70_Ala71insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.255_256insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Thr85_Ala86insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.90_91insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Thr30_Ala31insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.408_409insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Thr136_Ala137insThrAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.530_531insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln177_Gln178insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.683_684insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln228_Gln229insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.45_46insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Thr15_Ala16insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_004984.2:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.728_729insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln243_Gln244insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.876_877insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.1:n.711_712insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.1:n.930_931insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.1:n.765_766insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.1:n.1021_1022insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.1:n.865_866insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.1:n.1016_1017insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.1:n.391_392insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.1:n.874_875insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.1:n.853_854insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.1:n.565_566insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.1:n.863_864insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.1:n.885_886insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.1:n.511_512insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.1:n.877_878insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.1:n.709_710insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.1:n.723_724insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.1:n.181_182insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.1:n.378_379insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127696.2:c.848_849insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln283_Gln284insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.210_211insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Thr70_Ala71insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.255_256insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Thr85_Ala86insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.90_91insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Thr30_Ala31insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.408_409insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Thr136_Ala137insThrAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.530_531insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln177_Gln178insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.356_357insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln119_Gln120insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.45_46insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Thr15_Ala16insThrAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.893_894insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select NP_004984.2:p.Gln298_Gln299insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.728_729insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln243_Gln244insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.837_838insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.2:n.672_673insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.2:n.891_892insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.2:n.726_727insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.2:n.982_983insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.2:n.826_827insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.2:n.977_978insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.2:n.352_353insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.2:n.835_836insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.2:n.814_815insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.2:n.526_527insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.2:n.824_825insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.2:n.846_847insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.2:n.472_473insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.2:n.838_839insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.2:n.670_671insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.2:n.684_685insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.2:n.142_143insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.2:n.339_340insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127697.3:c.740_741insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln247_Gln248insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.683_684insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln228_Gln229insGlnGlnGlnGlnGlnGlnGlnGlnGlnG...