Canonical Allele Identifier: CA2998285623
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071029_92071030insGGCTGCTGC , CM000676.2:g.92071029_92071030insGGCTGCTGC GRCh38
NC_000014.8:g.92537373_92537374insGGCTGCTGC , CM000676.1:g.92537373_92537374insGGCTGCTGC GRCh37
NC_000014.7:g.91607126_91607127insGGCTGCTGC NCBI36
NG_008198.2:g.40600_40601insCGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*578_*579insCGCAGCAGC ENSP00000352324.5:n.*578_*579insCGCAGCAGC
ENST00000554672.6:c.367_368insCGCAGCAGC ENSP00000451417.2:p.Gln122_Gln123insProGlnGln
ENST00000556082.6:c.*314_*315insCGCAGCAGC ENSP00000450492.1:n.*314_*315insCGCAGCAGC
ENST00000556315.6:c.*578_*579insCGCAGCAGC ENSP00000451132.1:n.*578_*579insCGCAGCAGC
ENST00000557030.6:c.*99_*100insCGCAGCAGC ENSP00000452139.1:n.*99_*100insCGCAGCAGC
ENST00000557311.6:c.367_368insCGCAGCAGC ENSP00000450642.2:p.Gln122_Gln123insProGlnGln
ENST00000644486.2:c.904_905insCGCAGCAGC MANE Select ENSP00000496695.1:p.Gln301_Gln302insProGlnGln
ENST00000646485.1:c.*99_*100insCGCAGCAGC ENSP00000496590.1:n.*99_*100insCGCAGCAGC
ENST00000647161.1:c.904_905insCGCAGCAGC ENSP00000493680.1:p.Gln301_Gln302insProGlnGln
ENST00000340660.10:c.739_740insCGCAGCAGC ENSP00000339110.6:p.Gln246_Gln247insProGlnGln
ENST00000359366.9:c.*578_*579insCGCAGCAGC ENSP00000352324.5:n.*578_*579insCGCAGCAGC
ENST00000393287.9:c.751_752insCGCAGCAGC ENSP00000376965.6:p.Gln250_Gln251insProGlnGln
ENST00000429774.6:c.694_695insCGCAGCAGC ENSP00000389376.3:p.Gln231_Gln232insProGlnGln
ENST00000502250.5:c.367_368insCGCAGCAGC ENSP00000425322.1:p.Gln122_Gln123insProGlnGln
ENST00000503767.5:c.859_860insCGCAGCAGC ENSP00000426697.1:p.Gln286_Gln287insProGlnGln
ENST00000526245.1:n.117-12235_117-12234insCGCAGCAGC
ENST00000532032.5:c.904_905insCGCAGCAGC ENSP00000437157.1:p.Gln301_Gln302insProGlnGln
ENST00000545170.5:c.931_932insCGCAGCAGC ENSP00000445618.2:p.Gln310_Gln311insProGlnGln
ENST00000553287.5:n.642_643insCGCAGCAGC
ENST00000553309.5:n.938_939insCGCAGCAGC
ENST00000553488.5:c.*719_*720insCGCAGCAGC ENSP00000452461.1:n.*719_*720insCGCAGCAGC
ENST00000553491.5:c.751_752insCGCAGCAGC ENSP00000451996.1:p.Gln250_Gln251insProGlnGln
ENST00000553498.5:n.827_828insCGCAGCAGC
ENST00000553570.5:c.*363_*364insCGCAGCAGC ENSP00000451405.1:n.*363_*364insCGCAGCAGC
ENST00000553686.5:n.785_786insCGCAGCAGC
ENST00000554040.5:n.508_509insCGCAGCAGC
ENST00000554214.5:n.687_688insCGCAGCAGC
ENST00000554350.5:c.*504_*505insCGCAGCAGC ENSP00000451103.1:n.*504_*505insCGCAGCAGC
ENST00000554491.5:n.980_981insCGCAGCAGC
ENST00000554592.5:c.901_902insCGCAGCAGC ENSP00000451385.1:p.Gln300_Gln301insProGlnGln
ENST00000554672.5:c.610_611insCGCAGCAGC ENSP00000451417.1:p.Gln203_Gln204insProGlnGln
ENST00000554994.5:c.*363_*364insCGCAGCAGC ENSP00000451771.1:n.*363_*364insCGCAGCAGC
ENST00000555381.5:c.694_695insCGCAGCAGC ENSP00000451001.1:p.Gln231_Gln232insProGlnGln
ENST00000555816.5:c.*411_*412insCGCAGCAGC ENSP00000451910.1:n.*411_*412insCGCAGCAGC
ENST00000555958.5:n.773_774insCGCAGCAGC
ENST00000556082.5:c.*314_*315insCGCAGCAGC ENSP00000450492.1:n.*314_*315insCGCAGCAGC
ENST00000556220.5:c.586_587insCGCAGCAGC ENSP00000450641.1:p.Gln195_Gln196insProGlnGln
ENST00000556274.5:c.*567_*568insCGCAGCAGC ENSP00000451733.1:n.*567_*568insCGCAGCAGC
ENST00000556288.5:c.*555_*556insCGCAGCAGC ENSP00000450566.1:n.*555_*556insCGCAGCAGC
ENST00000556315.5:c.*578_*579insCGCAGCAGC ENSP00000451132.1:n.*578_*579insCGCAGCAGC
ENST00000556339.5:n.441_442insCGCAGCAGC
ENST00000556374.5:c.*632_*633insCGCAGCAGC ENSP00000451399.1:n.*632_*633insCGCAGCAGC
ENST00000556644.5:n.288_289insCGCAGCAGC
ENST00000556671.5:c.*482_*483insCGCAGCAGC ENSP00000451693.1:n.*482_*483insCGCAGCAGC
ENST00000556898.5:c.*401_*402insCGCAGCAGC ENSP00000451769.1:n.*401_*402insCGCAGCAGC
ENST00000556958.5:c.*363_*364insCGCAGCAGC ENSP00000452532.1:n.*363_*364insCGCAGCAGC
ENST00000557030.5:c.*99_*100insCGCAGCAGC ENSP00000452139.1:n.*99_*100insCGCAGCAGC
ENST00000557311.5:c.367_368insCGCAGCAGC ENSP00000450642.1:p.Gln122_Gln123insProGlnGln
ENST00000558190.5:c.904_905insCGCAGCAGC ENSP00000478320.1:p.Gln301_Gln302insProGlnGln
ENST00000617719.4:c.*62_*63insCGCAGCAGC ENSP00000481998.1:n.*62_*63insCGCAGCAGC
ENST00000620536.4:c.931_932insCGCAGCAGC ENSP00000484016.1:p.Gln310_Gln311insProGlnGln
ENST00000624063.1:c.50_51insGGCTGCTGC ENSP00000485197.1:p.Ala17_Ala18insAlaAlaAla
NM_001127696.1:c.859_860insCGCAGCAGC NP_001121168.1:p.Gln286_Gln287insProGlnGln
NM_001127697.2:c.751_752insCGCAGCAGC NP_001121169.2:p.Gln250_Gln251insProGlnGln
NM_001164774.1:c.221_222insCGCAGCAGC NP_001158246.1:p.Ala74_Ala75insAlaAlaAla
NM_001164776.1:c.266_267insCGCAGCAGC NP_001158248.1:p.Ala89_Ala90insAlaAlaAla
NM_001164777.1:c.101_102insCGCAGCAGC NP_001158249.1:p.Ala34_Ala35insAlaAlaAla
NM_001164778.1:c.419_420insCGCAGCAGC NP_001158250.1:p.Ala140_Ala141insAlaAlaAla
NM_001164779.1:c.541_542insCGCAGCAGC NP_001158251.1:p.Gln180_Gln181insProGlnGln
NM_001164780.1:c.367_368insCGCAGCAGC NP_001158252.1:p.Gln122_Gln123insProGlnGln
NM_001164781.1:c.694_695insCGCAGCAGC NP_001158253.1:p.Gln231_Gln232insProGlnGln
NM_001164782.1:c.56_57insCGCAGCAGC NP_001158254.1:p.Ala19_Ala20insAlaAlaAla
NM_004993.5:c.904_905insCGCAGCAGC NP_004984.2:p.Gln301_Gln302insProGlnGln
NM_030660.4:c.739_740insCGCAGCAGC NP_109376.1:p.Gln246_Gln247insProGlnGln
NR_028453.1:n.887_888insCGCAGCAGC
NR_028454.1:n.722_723insCGCAGCAGC
NR_028455.1:n.941_942insCGCAGCAGC
NR_028456.1:n.776_777insCGCAGCAGC
NR_028457.1:n.1032_1033insCGCAGCAGC
NR_028458.1:n.876_877insCGCAGCAGC
NR_028459.1:n.1027_1028insCGCAGCAGC
NR_028460.1:n.402_403insCGCAGCAGC
NR_028461.1:n.885_886insCGCAGCAGC
NR_028462.1:n.864_865insCGCAGCAGC
NR_028463.1:n.576_577insCGCAGCAGC
NR_028464.1:n.874_875insCGCAGCAGC
NR_028465.1:n.896_897insCGCAGCAGC
NR_028466.1:n.522_523insCGCAGCAGC
NR_028467.1:n.888_889insCGCAGCAGC
NR_028468.1:n.720_721insCGCAGCAGC
NR_028469.1:n.734_735insCGCAGCAGC
NR_028470.1:n.192_193insCGCAGCAGC
NR_031765.1:n.389_390insCGCAGCAGC
NM_001127696.2:c.859_860insCGCAGCAGC NP_001121168.1:p.Gln286_Gln287insProGlnGln
NM_001164774.2:c.221_222insCGCAGCAGC NP_001158246.1:p.Ala74_Ala75insAlaAlaAla
NM_001164776.2:c.266_267insCGCAGCAGC NP_001158248.1:p.Ala89_Ala90insAlaAlaAla
NM_001164777.2:c.101_102insCGCAGCAGC NP_001158249.1:p.Ala34_Ala35insAlaAlaAla
NM_001164778.2:c.419_420insCGCAGCAGC NP_001158250.1:p.Ala140_Ala141insAlaAlaAla
NM_001164779.2:c.541_542insCGCAGCAGC NP_001158251.1:p.Gln180_Gln181insProGlnGln
NM_001164780.2:c.367_368insCGCAGCAGC NP_001158252.1:p.Gln122_Gln123insProGlnGln
NM_001164782.2:c.56_57insCGCAGCAGC NP_001158254.1:p.Ala19_Ala20insAlaAlaAla
NM_004993.6:c.904_905insCGCAGCAGC MANE Select NP_004984.2:p.Gln301_Gln302insProGlnGln
NM_030660.5:c.739_740insCGCAGCAGC NP_109376.1:p.Gln246_Gln247insProGlnGln
NR_028453.2:n.848_849insCGCAGCAGC
NR_028454.2:n.683_684insCGCAGCAGC
NR_028455.2:n.902_903insCGCAGCAGC
NR_028456.2:n.737_738insCGCAGCAGC
NR_028457.2:n.993_994insCGCAGCAGC
NR_028458.2:n.837_838insCGCAGCAGC
NR_028459.2:n.988_989insCGCAGCAGC
NR_028460.2:n.363_364insCGCAGCAGC
NR_028461.2:n.846_847insCGCAGCAGC
NR_028462.2:n.825_826insCGCAGCAGC
NR_028463.2:n.537_538insCGCAGCAGC
NR_028464.2:n.835_836insCGCAGCAGC
NR_028465.2:n.857_858insCGCAGCAGC
NR_028466.2:n.483_484insCGCAGCAGC
NR_028467.2:n.849_850insCGCAGCAGC
NR_028468.2:n.681_682insCGCAGCAGC
NR_028469.2:n.695_696insCGCAGCAGC
NR_028470.2:n.153_154insCGCAGCAGC
NR_031765.2:n.350_351insCGCAGCAGC
NM_001127697.3:c.751_752insCGCAGCAGC NP_001121169.2:p.Gln250_Gln251insProGlnGln
NM_001164781.2:c.694_695insCGCAGCAGC NP_001158253.1:p.Gln231_Gln232insProGlnGln