Canonical Allele Identifier: CA919478761
Gene: ATXN3 HGNC NCBI

Linked Data

dbSNP Id: rs760022885

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTACTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTACTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTACTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTACTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTACTG NCBI36
NG_008198.2:g.40590_40591insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*568_*569insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*568_*569insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554672.6:c.357_358insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.6:c.*304_*305insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*304_*305insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.6:c.*568_*569insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*568_*569insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.6:c.*89_*90insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*89_*90insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.6:c.357_358insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000644486.2:c.894_895insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000646485.1:c.*89_*90insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000496590.1:n.*89_*90insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000647161.1:c.894_895insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000340660.10:c.729_730insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000359366.9:c.*568_*569insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*568_*569insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000393287.9:c.741_742insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000429774.6:c.684_685insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000502250.5:c.357_358insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000503767.5:c.849_850insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000526245.1:n.117-12245_117-12244insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.894_895insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000545170.5:c.921_922insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553287.5:n.632_633insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.928_929insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*709_*710insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*709_*710insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553491.5:c.741_742insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553498.5:n.817_818insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*353_*354insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*353_*354insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553686.5:n.775_776insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.498_499insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.677_678insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*494_*495insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*494_*495insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554491.5:n.970_971insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.891_892insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554672.5:c.600_601insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554994.5:c.*353_*354insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*353_*354insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555381.5:c.684_685insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000555816.5:c.*401_*402insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*401_*402insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555958.5:n.763_764insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*304_*305insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*304_*305insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556220.5:c.576_577insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556274.5:c.*557_*558insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*557_*558insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556288.5:c.*545_*546insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*545_*546insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.5:c.*568_*569insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*568_*569insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556339.5:n.431_432insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*622_*623insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*622_*623insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556644.5:n.278_279insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*472_*473insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*472_*473insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556898.5:c.*391_*392insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*391_*392insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556958.5:c.*353_*354insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*353_*354insTAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.5:c.*89_*90insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*89_*90insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.5:c.357_358insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000558190.5:c.894_895insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000617719.4:c.*52_*53insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*52_*53insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000620536.4:c.921_922insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTACTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.849_850insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.2:c.741_742insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164774.1:c.211_212insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Thr70_Ala71insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.256_257insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Thr85_Ala86insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.91_92insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Thr30_Ala31insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.409_410insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Thr136_Ala137insValAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.531_532insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164780.1:c.357_358insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164781.1:c.684_685insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164782.1:c.46_47insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Thr15_Ala16insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.894_895insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_030660.4:c.729_730insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028453.1:n.877_878insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.712_713insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.931_932insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.766_767insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1022_1023insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.866_867insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1017_1018insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.392_393insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.875_876insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.854_855insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.566_567insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.864_865insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.886_887insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.512_513insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.878_879insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.710_711insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.724_725insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.182_183insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.379_380insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.849_850insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164774.2:c.211_212insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Thr70_Ala71insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.256_257insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Thr85_Ala86insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.91_92insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Thr30_Ala31insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.409_410insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Thr136_Ala137insValAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.531_532insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164780.2:c.357_358insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164782.2:c.46_47insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Thr15_Ala16insValAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.894_895insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_030660.5:c.729_730insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028453.2:n.838_839insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.673_674insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.892_893insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.727_728insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.983_984insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.827_828insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.978_979insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.353_354insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.836_837insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.815_816insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.527_528insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.825_826insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.847_848insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.473_474insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.839_840insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.671_672insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.685_686insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.143_144insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.340_341insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.741_742insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001164781.2:c.684_685insTAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG