Canonical Allele Identifier: CA919478763
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATG NCBI36
NG_008198.2:g.40589_40590insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*567_*568insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*567_*568insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554672.6:c.356_357insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.2:p.Gln118_Gln119insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*303_*304insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*303_*304insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.6:c.*567_*568insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*567_*568insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.6:c.*88_*89insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*88_*89insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.6:c.356_357insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.2:p.Gln118_Gln119insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.893_894insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select ENSP00000496695.1:p.Gln297_Gln298insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*88_*89insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000496590.1:n.*88_*89insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000647161.1:c.893_894insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000493680.1:p.Gln297_Gln298insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.728_729insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000339110.6:p.Gln242_Gln243insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*567_*568insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*567_*568insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000393287.9:c.740_741insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000376965.6:p.Gln246_Gln247insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.683_684insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000389376.3:p.Gln227_Gln228insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.356_357insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000425322.1:p.Gln118_Gln119insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.848_849insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000426697.1:p.Gln282_Gln283insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12246_117-12245insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000532032.5:c.893_894insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000437157.1:p.Gln297_Gln298insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.920_921insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000445618.2:p.Gln306_Gln307insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.631_632insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553309.5:n.927_928insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553488.5:c.*708_*709insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452461.1:n.*708_*709insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553491.5:c.740_741insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451996.1:p.Gln246_Gln247insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.816_817insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553570.5:c.*352_*353insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451405.1:n.*352_*353insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553686.5:n.774_775insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554040.5:n.497_498insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554214.5:n.676_677insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554350.5:c.*493_*494insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451103.1:n.*493_*494insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554491.5:n.969_970insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554592.5:c.890_891insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451385.1:p.Gln296_Gln297insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.599_600insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.1:p.Gln199_Gln200insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*352_*353insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451771.1:n.*352_*353insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555381.5:c.683_684insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451001.1:p.Gln227_Gln228insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*400_*401insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451910.1:n.*400_*401insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555958.5:n.762_763insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556082.5:c.*303_*304insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*303_*304insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556220.5:c.575_576insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450641.1:p.Gln191_Gln192insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*556_*557insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451733.1:n.*556_*557insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556288.5:c.*544_*545insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450566.1:n.*544_*545insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.5:c.*567_*568insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*567_*568insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556339.5:n.430_431insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556374.5:c.*621_*622insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451399.1:n.*621_*622insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556644.5:n.277_278insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556671.5:c.*471_*472insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451693.1:n.*471_*472insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556898.5:c.*390_*391insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451769.1:n.*390_*391insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556958.5:c.*352_*353insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452532.1:n.*352_*353insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.5:c.*88_*89insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*88_*89insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.5:c.356_357insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.1:p.Gln118_Gln119insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.893_894insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000478320.1:p.Gln297_Gln298insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*51_*52insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000481998.1:n.*51_*52insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000620536.4:c.920_921insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000484016.1:p.Gln306_Gln307insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.848_849insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln282_Gln283insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.740_741insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln246_Gln247insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.210_211insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Thr70_Ala71insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.255_256insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Thr85_Ala86insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.90_91insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Thr30_Ala31insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.408_409insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Thr136_Ala137insSerAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.530_531insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln176_Gln177insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.356_357insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln118_Gln119insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.683_684insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln227_Gln228insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.45_46insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Thr15_Ala16insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.893_894insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_004984.2:p.Gln297_Gln298insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.728_729insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln242_Gln243insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.876_877insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.1:n.711_712insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.1:n.930_931insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.1:n.765_766insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.1:n.1021_1022insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.1:n.865_866insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.1:n.1016_1017insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.1:n.391_392insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.1:n.874_875insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.1:n.853_854insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.1:n.565_566insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.1:n.863_864insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.1:n.885_886insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.1:n.511_512insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.1:n.877_878insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.1:n.709_710insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.1:n.723_724insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.1:n.181_182insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.1:n.378_379insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127696.2:c.848_849insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln282_Gln283insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.210_211insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Thr70_Ala71insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.255_256insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Thr85_Ala86insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.90_91insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Thr30_Ala31insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.408_409insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Thr136_Ala137insSerAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.530_531insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln176_Gln177insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.356_357insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln118_Gln119insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.45_46insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Thr15_Ala16insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.893_894insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select NP_004984.2:p.Gln297_Gln298insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.728_729insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln242_Gln243insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.837_838insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.2:n.672_673insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.2:n.891_892insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.2:n.726_727insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.2:n.982_983insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.2:n.826_827insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.2:n.977_978insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.2:n.352_353insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.2:n.835_836insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.2:n.814_815insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.2:n.526_527insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.2:n.824_825insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.2:n.846_847insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.2:n.472_473insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.2:n.838_839insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.2:n.670_671insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.2:n.684_685insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.2:n.142_143insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.2:n.339_340insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127697.3:c.740_741insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln246_Gln247insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.683_684insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln227_Gln228insHisGlnGlnGlnGlnGlnGlnGlnGlnG...