Canonical Allele Identifier: CA2998285646
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCGGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCGGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCGGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCGGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCGGCTG NCBI36
NG_008198.2:g.40591_40592insCGCAGCAGCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*569_*570insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*569_*570insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554672.6:c.358_359insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.2:p.Gln119_Gln120insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*305_*306insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*305_*306insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556315.6:c.*569_*570insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*569_*570insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557030.6:c.*90_*91insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*90_*91insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557311.6:c.358_359insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.2:p.Gln119_Gln120insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.895_896insCGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select ENSP00000496695.1:p.Gln298_Gln299insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*90_*91insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000496590.1:n.*90_*91insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000647161.1:c.895_896insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000493680.1:p.Gln298_Gln299insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.730_731insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000339110.6:p.Gln243_Gln244insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*569_*570insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*569_*570insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000393287.9:c.742_743insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000376965.6:p.Gln247_Gln248insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.685_686insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000389376.3:p.Gln228_Gln229insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.358_359insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000425322.1:p.Gln119_Gln120insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.850_851insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000426697.1:p.Gln283_Gln284insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12244_117-12243insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000532032.5:c.895_896insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000437157.1:p.Gln298_Gln299insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.922_923insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000445618.2:p.Gln307_Gln308insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.633_634insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553309.5:n.929_930insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553488.5:c.*710_*711insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452461.1:n.*710_*711insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553491.5:c.742_743insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451996.1:p.Gln247_Gln248insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.818_819insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553570.5:c.*354_*355insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451405.1:n.*354_*355insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553686.5:n.776_777insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554040.5:n.499_500insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554214.5:n.678_679insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554350.5:c.*495_*496insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451103.1:n.*495_*496insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554491.5:n.971_972insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554592.5:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451385.1:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.601_602insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.1:p.Gln200_Gln201insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*354_*355insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451771.1:n.*354_*355insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000555381.5:c.685_686insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451001.1:p.Gln228_Gln229insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*402_*403insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451910.1:n.*402_*403insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000555958.5:n.764_765insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556082.5:c.*305_*306insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*305_*306insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556220.5:c.577_578insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450641.1:p.Gln192_Gln193insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*558_*559insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451733.1:n.*558_*559insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556288.5:c.*546_*547insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450566.1:n.*546_*547insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556315.5:c.*569_*570insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*569_*570insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556339.5:n.432_433insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556374.5:c.*623_*624insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451399.1:n.*623_*624insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556644.5:n.279_280insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556671.5:c.*473_*474insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451693.1:n.*473_*474insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556898.5:c.*392_*393insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451769.1:n.*392_*393insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556958.5:c.*354_*355insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452532.1:n.*354_*355insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557030.5:c.*90_*91insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*90_*91insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557311.5:c.358_359insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.1:p.Gln119_Gln120insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.895_896insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000478320.1:p.Gln298_Gln299insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*53_*54insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000481998.1:n.*53_*54insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000620536.4:c.922_923insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000484016.1:p.Gln307_Gln308insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCGGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.850_851insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln283_Gln284insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001127697.2:c.742_743insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln247_Gln248insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164774.1:c.212_213insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala71_Ala72insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.1:c.257_258insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala86_Ala87insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.1:c.92_93insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala31_Ala32insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.1:c.410_411insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala137_Ala138insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.1:c.532_533insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln177_Gln178insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164780.1:c.358_359insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln119_Gln120insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164781.1:c.685_686insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln228_Gln229insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164782.1:c.47_48insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala16_Ala17insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.5:c.895_896insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_004984.2:p.Gln298_Gln299insProGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.4:c.730_731insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln243_Gln244insProGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.1:n.878_879insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.1:n.713_714insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.1:n.932_933insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.1:n.767_768insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.1:n.1023_1024insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.1:n.867_868insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.1:n.1018_1019insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.1:n.393_394insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.1:n.876_877insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.1:n.855_856insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.1:n.567_568insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.1:n.865_866insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.1:n.887_888insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.1:n.513_514insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.1:n.879_880insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.1:n.711_712insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.1:n.725_726insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.1:n.183_184insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.1:n.380_381insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127696.2:c.850_851insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln283_Gln284insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164774.2:c.212_213insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala71_Ala72insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.2:c.257_258insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala86_Ala87insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.2:c.92_93insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala31_Ala32insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.2:c.410_411insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala137_Ala138insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.2:c.532_533insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln177_Gln178insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164780.2:c.358_359insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln119_Gln120insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164782.2:c.47_48insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala16_Ala17insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.6:c.895_896insCGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select NP_004984.2:p.Gln298_Gln299insProGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.5:c.730_731insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln243_Gln244insProGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.2:n.839_840insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.2:n.674_675insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.2:n.893_894insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.2:n.728_729insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.2:n.984_985insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.2:n.828_829insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.2:n.979_980insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.2:n.354_355insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.2:n.837_838insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.2:n.816_817insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.2:n.528_529insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.2:n.826_827insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.2:n.848_849insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.2:n.474_475insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.2:n.840_841insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.2:n.672_673insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.2:n.686_687insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.2:n.144_145insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.2:n.341_342insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127697.3:c.742_743insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln247_Gln248insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164781.2:c.685_686insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln228_Gln229insProGlnGlnGlnGlnGlnGlnGlnGln