Canonical Allele Identifier: CA913961182
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGCTGCTG NCBI36
NG_008198.2:g.40598_40599insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*576_*577insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*576_*577insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554672.6:c.365_366insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.2:p.Gln121_Gln122insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*312_*313insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*312_*313insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.6:c.*576_*577insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*576_*577insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.6:c.*97_*98insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*97_*98insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.6:c.365_366insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.2:p.Gln121_Gln122insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.902_903insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select ENSP00000496695.1:p.Gln300_Gln301insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*97_*98insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000496590.1:n.*97_*98insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000647161.1:c.902_903insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000493680.1:p.Gln300_Gln301insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.737_738insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000339110.6:p.Gln245_Gln246insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*576_*577insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000352324.5:n.*576_*577insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000393287.9:c.749_750insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000376965.6:p.Gln249_Gln250insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.692_693insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000389376.3:p.Gln230_Gln231insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.365_366insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000425322.1:p.Gln121_Gln122insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.857_858insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000426697.1:p.Gln285_Gln286insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12237_117-12236insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000532032.5:c.902_903insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000437157.1:p.Gln300_Gln301insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.929_930insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000445618.2:p.Gln309_Gln310insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.640_641insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553309.5:n.936_937insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553488.5:c.*717_*718insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452461.1:n.*717_*718insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553491.5:c.749_750insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451996.1:p.Gln249_Gln250insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.825_826insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000553570.5:c.*361_*362insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451405.1:n.*361_*362insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000553686.5:n.783_784insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554040.5:n.506_507insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554214.5:n.685_686insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554350.5:c.*502_*503insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451103.1:n.*502_*503insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000554491.5:n.978_979insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000554592.5:c.899_900insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451385.1:p.Gln299_Gln300insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.608_609insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451417.1:p.Gln202_Gln203insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*361_*362insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451771.1:n.*361_*362insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555381.5:c.692_693insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451001.1:p.Gln230_Gln231insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*409_*410insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451910.1:n.*409_*410insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000555958.5:n.771_772insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556082.5:c.*312_*313insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450492.1:n.*312_*313insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556220.5:c.584_585insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450641.1:p.Gln194_Gln195insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*565_*566insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451733.1:n.*565_*566insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556288.5:c.*553_*554insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450566.1:n.*553_*554insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556315.5:c.*576_*577insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451132.1:n.*576_*577insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556339.5:n.439_440insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556374.5:c.*630_*631insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451399.1:n.*630_*631insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556644.5:n.286_287insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
ENST00000556671.5:c.*480_*481insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451693.1:n.*480_*481insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556898.5:c.*399_*400insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000451769.1:n.*399_*400insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000556958.5:c.*361_*362insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452532.1:n.*361_*362insTCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557030.5:c.*97_*98insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000452139.1:n.*97_*98insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.5:c.365_366insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000450642.1:p.Gln121_Gln122insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.902_903insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000478320.1:p.Gln300_Gln301insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*60_*61insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000481998.1:n.*60_*61insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000620536.4:c.929_930insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA ENSP00000484016.1:p.Gln309_Gln310insHisGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.857_858insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln285_Gln286insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.749_750insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln249_Gln250insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.219_220insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Ala73_Ala74insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.264_265insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Ala88_Ala89insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.99_100insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Ala33_Ala34insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.417_418insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Ala139_Ala140insSerAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.539_540insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln179_Gln180insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.365_366insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln121_Gln122insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.692_693insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln230_Gln231insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.54_55insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Ala18_Ala19insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.902_903insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_004984.2:p.Gln300_Gln301insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.737_738insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln245_Gln246insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.885_886insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.1:n.720_721insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.1:n.939_940insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.1:n.774_775insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.1:n.1030_1031insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.1:n.874_875insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.1:n.1025_1026insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.1:n.400_401insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.1:n.883_884insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.1:n.862_863insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.1:n.574_575insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.1:n.872_873insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.1:n.894_895insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.1:n.520_521insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.1:n.886_887insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.1:n.718_719insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.1:n.732_733insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.1:n.190_191insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.1:n.387_388insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127696.2:c.857_858insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121168.1:p.Gln285_Gln286insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.219_220insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158246.1:p.Ala73_Ala74insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.264_265insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158248.1:p.Ala88_Ala89insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.99_100insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158249.1:p.Ala33_Ala34insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.417_418insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158250.1:p.Ala139_Ala140insSerAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.539_540insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158251.1:p.Gln179_Gln180insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.365_366insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158252.1:p.Gln121_Gln122insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.54_55insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158254.1:p.Ala18_Ala19insSerAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.902_903insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select NP_004984.2:p.Gln300_Gln301insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.737_738insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_109376.1:p.Gln245_Gln246insHisGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.846_847insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028454.2:n.681_682insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028455.2:n.900_901insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028456.2:n.735_736insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028457.2:n.991_992insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028458.2:n.835_836insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028459.2:n.986_987insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028460.2:n.361_362insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028461.2:n.844_845insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028462.2:n.823_824insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028463.2:n.535_536insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028464.2:n.833_834insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028465.2:n.855_856insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028466.2:n.481_482insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028467.2:n.847_848insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028468.2:n.679_680insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028469.2:n.693_694insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_028470.2:n.151_152insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NR_031765.2:n.348_349insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001127697.3:c.749_750insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001121169.2:p.Gln249_Gln250insHisGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.692_693insTCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA NP_001158253.1:p.Gln230_Gln231insHisGlnGlnGlnGlnGlnGlnGlnGlnG...