Canonical Allele Identifier: CA2626174121
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCGGCTG , CM000676.2:g.92071034_92071035insCTGCGGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCGGCTG , CM000676.1:g.92537378_92537379insCTGCGGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCGGCTG NCBI36
NG_008198.2:g.40591_40592insCGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*569_*570insCGCAGCAGC ENSP00000352324.5:n.*569_*570insCGCAGCAGC
ENST00000554672.6:c.358_359insCGCAGCAGC ENSP00000451417.2:p.Gln119_Gln120insProGlnGln
ENST00000556082.6:c.*305_*306insCGCAGCAGC ENSP00000450492.1:n.*305_*306insCGCAGCAGC
ENST00000556315.6:c.*569_*570insCGCAGCAGC ENSP00000451132.1:n.*569_*570insCGCAGCAGC
ENST00000557030.6:c.*90_*91insCGCAGCAGC ENSP00000452139.1:n.*90_*91insCGCAGCAGC
ENST00000557311.6:c.358_359insCGCAGCAGC ENSP00000450642.2:p.Gln119_Gln120insProGlnGln
ENST00000644486.2:c.895_896insCGCAGCAGC MANE Select ENSP00000496695.1:p.Gln298_Gln299insProGlnGln
ENST00000646485.1:c.*90_*91insCGCAGCAGC ENSP00000496590.1:n.*90_*91insCGCAGCAGC
ENST00000647161.1:c.895_896insCGCAGCAGC ENSP00000493680.1:p.Gln298_Gln299insProGlnGln
ENST00000340660.10:c.730_731insCGCAGCAGC ENSP00000339110.6:p.Gln243_Gln244insProGlnGln
ENST00000359366.9:c.*569_*570insCGCAGCAGC ENSP00000352324.5:n.*569_*570insCGCAGCAGC
ENST00000393287.9:c.742_743insCGCAGCAGC ENSP00000376965.6:p.Gln247_Gln248insProGlnGln
ENST00000429774.6:c.685_686insCGCAGCAGC ENSP00000389376.3:p.Gln228_Gln229insProGlnGln
ENST00000502250.5:c.358_359insCGCAGCAGC ENSP00000425322.1:p.Gln119_Gln120insProGlnGln
ENST00000503767.5:c.850_851insCGCAGCAGC ENSP00000426697.1:p.Gln283_Gln284insProGlnGln
ENST00000526245.1:n.117-12244_117-12243insCGCAGCAGC
ENST00000532032.5:c.895_896insCGCAGCAGC ENSP00000437157.1:p.Gln298_Gln299insProGlnGln
ENST00000545170.5:c.922_923insCGCAGCAGC ENSP00000445618.2:p.Gln307_Gln308insProGlnGln
ENST00000553287.5:n.633_634insCGCAGCAGC
ENST00000553309.5:n.929_930insCGCAGCAGC
ENST00000553488.5:c.*710_*711insCGCAGCAGC ENSP00000452461.1:n.*710_*711insCGCAGCAGC
ENST00000553491.5:c.742_743insCGCAGCAGC ENSP00000451996.1:p.Gln247_Gln248insProGlnGln
ENST00000553498.5:n.818_819insCGCAGCAGC
ENST00000553570.5:c.*354_*355insCGCAGCAGC ENSP00000451405.1:n.*354_*355insCGCAGCAGC
ENST00000553686.5:n.776_777insCGCAGCAGC
ENST00000554040.5:n.499_500insCGCAGCAGC
ENST00000554214.5:n.678_679insCGCAGCAGC
ENST00000554350.5:c.*495_*496insCGCAGCAGC ENSP00000451103.1:n.*495_*496insCGCAGCAGC
ENST00000554491.5:n.971_972insCGCAGCAGC
ENST00000554592.5:c.892_893insCGCAGCAGC ENSP00000451385.1:p.Gln297_Gln298insProGlnGln
ENST00000554672.5:c.601_602insCGCAGCAGC ENSP00000451417.1:p.Gln200_Gln201insProGlnGln
ENST00000554994.5:c.*354_*355insCGCAGCAGC ENSP00000451771.1:n.*354_*355insCGCAGCAGC
ENST00000555381.5:c.685_686insCGCAGCAGC ENSP00000451001.1:p.Gln228_Gln229insProGlnGln
ENST00000555816.5:c.*402_*403insCGCAGCAGC ENSP00000451910.1:n.*402_*403insCGCAGCAGC
ENST00000555958.5:n.764_765insCGCAGCAGC
ENST00000556082.5:c.*305_*306insCGCAGCAGC ENSP00000450492.1:n.*305_*306insCGCAGCAGC
ENST00000556220.5:c.577_578insCGCAGCAGC ENSP00000450641.1:p.Gln192_Gln193insProGlnGln
ENST00000556274.5:c.*558_*559insCGCAGCAGC ENSP00000451733.1:n.*558_*559insCGCAGCAGC
ENST00000556288.5:c.*546_*547insCGCAGCAGC ENSP00000450566.1:n.*546_*547insCGCAGCAGC
ENST00000556315.5:c.*569_*570insCGCAGCAGC ENSP00000451132.1:n.*569_*570insCGCAGCAGC
ENST00000556339.5:n.432_433insCGCAGCAGC
ENST00000556374.5:c.*623_*624insCGCAGCAGC ENSP00000451399.1:n.*623_*624insCGCAGCAGC
ENST00000556644.5:n.279_280insCGCAGCAGC
ENST00000556671.5:c.*473_*474insCGCAGCAGC ENSP00000451693.1:n.*473_*474insCGCAGCAGC
ENST00000556898.5:c.*392_*393insCGCAGCAGC ENSP00000451769.1:n.*392_*393insCGCAGCAGC
ENST00000556958.5:c.*354_*355insCGCAGCAGC ENSP00000452532.1:n.*354_*355insCGCAGCAGC
ENST00000557030.5:c.*90_*91insCGCAGCAGC ENSP00000452139.1:n.*90_*91insCGCAGCAGC
ENST00000557311.5:c.358_359insCGCAGCAGC ENSP00000450642.1:p.Gln119_Gln120insProGlnGln
ENST00000558190.5:c.895_896insCGCAGCAGC ENSP00000478320.1:p.Gln298_Gln299insProGlnGln
ENST00000617719.4:c.*53_*54insCGCAGCAGC ENSP00000481998.1:n.*53_*54insCGCAGCAGC
ENST00000620536.4:c.922_923insCGCAGCAGC ENSP00000484016.1:p.Gln307_Gln308insProGlnGln
ENST00000624063.1:c.55_56insCTGCGGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAla
NM_001127696.1:c.850_851insCGCAGCAGC NP_001121168.1:p.Gln283_Gln284insProGlnGln
NM_001127697.2:c.742_743insCGCAGCAGC NP_001121169.2:p.Gln247_Gln248insProGlnGln
NM_001164774.1:c.212_213insCGCAGCAGC NP_001158246.1:p.Ala71_Ala72insAlaAlaAla
NM_001164776.1:c.257_258insCGCAGCAGC NP_001158248.1:p.Ala86_Ala87insAlaAlaAla
NM_001164777.1:c.92_93insCGCAGCAGC NP_001158249.1:p.Ala31_Ala32insAlaAlaAla
NM_001164778.1:c.410_411insCGCAGCAGC NP_001158250.1:p.Ala137_Ala138insAlaAlaAla
NM_001164779.1:c.532_533insCGCAGCAGC NP_001158251.1:p.Gln177_Gln178insProGlnGln
NM_001164780.1:c.358_359insCGCAGCAGC NP_001158252.1:p.Gln119_Gln120insProGlnGln
NM_001164781.1:c.685_686insCGCAGCAGC NP_001158253.1:p.Gln228_Gln229insProGlnGln
NM_001164782.1:c.47_48insCGCAGCAGC NP_001158254.1:p.Ala16_Ala17insAlaAlaAla
NM_004993.5:c.895_896insCGCAGCAGC NP_004984.2:p.Gln298_Gln299insProGlnGln
NM_030660.4:c.730_731insCGCAGCAGC NP_109376.1:p.Gln243_Gln244insProGlnGln
NR_028453.1:n.878_879insCGCAGCAGC
NR_028454.1:n.713_714insCGCAGCAGC
NR_028455.1:n.932_933insCGCAGCAGC
NR_028456.1:n.767_768insCGCAGCAGC
NR_028457.1:n.1023_1024insCGCAGCAGC
NR_028458.1:n.867_868insCGCAGCAGC
NR_028459.1:n.1018_1019insCGCAGCAGC
NR_028460.1:n.393_394insCGCAGCAGC
NR_028461.1:n.876_877insCGCAGCAGC
NR_028462.1:n.855_856insCGCAGCAGC
NR_028463.1:n.567_568insCGCAGCAGC
NR_028464.1:n.865_866insCGCAGCAGC
NR_028465.1:n.887_888insCGCAGCAGC
NR_028466.1:n.513_514insCGCAGCAGC
NR_028467.1:n.879_880insCGCAGCAGC
NR_028468.1:n.711_712insCGCAGCAGC
NR_028469.1:n.725_726insCGCAGCAGC
NR_028470.1:n.183_184insCGCAGCAGC
NR_031765.1:n.380_381insCGCAGCAGC
NM_001127696.2:c.850_851insCGCAGCAGC NP_001121168.1:p.Gln283_Gln284insProGlnGln
NM_001164774.2:c.212_213insCGCAGCAGC NP_001158246.1:p.Ala71_Ala72insAlaAlaAla
NM_001164776.2:c.257_258insCGCAGCAGC NP_001158248.1:p.Ala86_Ala87insAlaAlaAla
NM_001164777.2:c.92_93insCGCAGCAGC NP_001158249.1:p.Ala31_Ala32insAlaAlaAla
NM_001164778.2:c.410_411insCGCAGCAGC NP_001158250.1:p.Ala137_Ala138insAlaAlaAla
NM_001164779.2:c.532_533insCGCAGCAGC NP_001158251.1:p.Gln177_Gln178insProGlnGln
NM_001164780.2:c.358_359insCGCAGCAGC NP_001158252.1:p.Gln119_Gln120insProGlnGln
NM_001164782.2:c.47_48insCGCAGCAGC NP_001158254.1:p.Ala16_Ala17insAlaAlaAla
NM_004993.6:c.895_896insCGCAGCAGC MANE Select NP_004984.2:p.Gln298_Gln299insProGlnGln
NM_030660.5:c.730_731insCGCAGCAGC NP_109376.1:p.Gln243_Gln244insProGlnGln
NR_028453.2:n.839_840insCGCAGCAGC
NR_028454.2:n.674_675insCGCAGCAGC
NR_028455.2:n.893_894insCGCAGCAGC
NR_028456.2:n.728_729insCGCAGCAGC
NR_028457.2:n.984_985insCGCAGCAGC
NR_028458.2:n.828_829insCGCAGCAGC
NR_028459.2:n.979_980insCGCAGCAGC
NR_028460.2:n.354_355insCGCAGCAGC
NR_028461.2:n.837_838insCGCAGCAGC
NR_028462.2:n.816_817insCGCAGCAGC
NR_028463.2:n.528_529insCGCAGCAGC
NR_028464.2:n.826_827insCGCAGCAGC
NR_028465.2:n.848_849insCGCAGCAGC
NR_028466.2:n.474_475insCGCAGCAGC
NR_028467.2:n.840_841insCGCAGCAGC
NR_028468.2:n.672_673insCGCAGCAGC
NR_028469.2:n.686_687insCGCAGCAGC
NR_028470.2:n.144_145insCGCAGCAGC
NR_031765.2:n.341_342insCGCAGCAGC
NM_001127697.3:c.742_743insCGCAGCAGC NP_001121169.2:p.Gln247_Gln248insProGlnGln
NM_001164781.2:c.685_686insCGCAGCAGC NP_001158253.1:p.Gln228_Gln229insProGlnGln