Canonical Allele Identifier: CA265623224
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071023_92071034dup , CM000676.2:g.92071023_92071034dup GRCh38
NC_000014.8:g.92537367_92537378dup , CM000676.1:g.92537367_92537378dup GRCh37
NC_000014.7:g.91607120_91607131dup NCBI36
NG_008198.2:g.40600_40611dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*578_*589dup ENSP00000352324.5:n.*578_*589dup
ENST00000557030.6:c.*99_*110dup ENSP00000452139.1:n.*99_*110dup
ENST00000557311.6:c.367_378dup ENSP00000450642.2:p.Gln126_Gly127insGlnGlnGlnGln
ENST00000644486.2:c.904_915dup MANE Select ENSP00000496695.1:p.Gln305_Gly306insGlnGlnGlnGln
ENST00000647161.1:c.904_915dup ENSP00000493680.1:p.Gln305_Gly306insGlnGlnGlnGln
ENST00000340660.10:c.739_750dup ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGln
ENST00000359366.9:c.*578_*589dup ENSP00000352324.5:n.*578_*589dup
ENST00000393287.9:c.751_762dup ENSP00000376965.6:p.Gln254_Gly255insGlnGlnGlnGln
ENST00000429774.6:c.694_705dup ENSP00000389376.3:p.Gln235_Gly236insGlnGlnGlnGln
ENST00000502250.5:c.367_378dup ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGln
ENST00000503767.5:c.859_870dup ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGln
ENST00000526245.1:n.117-12235_117-12224dup
ENST00000532032.5:c.904_915dup ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGln
ENST00000545170.5:c.931_942dup ENSP00000445618.2:p.Gln314_Gly315insGlnGlnGlnGln
ENST00000553287.5:n.642_653dup
ENST00000553309.5:n.938_949dup
ENST00000553488.5:c.*719_*730dup ENSP00000452461.1:n.*719_*730dup
ENST00000553491.5:c.751_762dup ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGln
ENST00000553498.5:n.827_838dup
ENST00000553570.5:c.*363_*374dup ENSP00000451405.1:n.*363_*374dup
ENST00000553686.5:n.785_796dup
ENST00000554040.5:n.508_519dup
ENST00000554214.5:n.687_698dup
ENST00000554350.5:c.*504_*515dup ENSP00000451103.1:n.*504_*515dup
ENST00000554491.5:n.980_991dup
ENST00000554592.5:c.901_912dup ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGln
ENST00000554672.5:c.610_621dup ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGln
ENST00000554994.5:c.*363_*374dup ENSP00000451771.1:n.*363_*374dup
ENST00000555381.5:c.694_705dup ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGln
ENST00000555816.5:c.*411_*422dup ENSP00000451910.1:n.*411_*422dup
ENST00000555958.5:n.773_784dup
ENST00000556082.5:c.*314_*325dup ENSP00000450492.1:n.*314_*325dup
ENST00000556220.5:c.586_597dup ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGln
ENST00000556274.5:c.*567_*578dup ENSP00000451733.1:n.*567_*578dup
ENST00000556288.5:c.*555_*566dup ENSP00000450566.1:n.*555_*566dup
ENST00000556315.5:c.*578_*589dup ENSP00000451132.1:n.*578_*589dup
ENST00000556339.5:n.441_452dup
ENST00000556374.5:c.*632_*643dup ENSP00000451399.1:n.*632_*643dup
ENST00000556644.5:n.288_299dup
ENST00000556671.5:c.*482_*493dup ENSP00000451693.1:n.*482_*493dup
ENST00000556898.5:c.*401_*412dup ENSP00000451769.1:n.*401_*412dup
ENST00000556958.5:c.*363_*374dup ENSP00000452532.1:n.*363_*374dup
ENST00000557030.5:c.*99_*110dup ENSP00000452139.1:n.*99_*110dup
ENST00000557311.5:c.367_378dup ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGln
ENST00000558190.5:c.904_915dup ENSP00000478320.1:p.Gln305_Gly306insGlnGlnGlnGln
ENST00000617719.4:c.*62_*73dup ENSP00000481998.1:n.*62_*73dup
ENST00000620536.4:c.931_942dup ENSP00000484016.1:p.Gln314_Gly315insGlnGlnGlnGln
ENST00000624063.1:c.44_55dup ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAla
NM_001127696.1:c.859_870dup NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGln
NM_001127697.2:c.751_762dup NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGln
NM_001164774.1:c.221_232dup NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAla
NM_001164776.1:c.266_277dup NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAla
NM_001164777.1:c.101_112dup NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAla
NM_001164778.1:c.419_430dup NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAla
NM_001164779.1:c.541_552dup NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGln
NM_001164780.1:c.367_378dup NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGln
NM_001164781.1:c.694_705dup NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGln
NM_001164782.1:c.56_67dup NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAla
NM_004993.5:c.904_915dup NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGln
NM_030660.4:c.739_750dup NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGln
NR_028453.1:n.887_898dup
NR_028454.1:n.722_733dup
NR_028455.1:n.941_952dup
NR_028456.1:n.776_787dup
NR_028457.1:n.1032_1043dup
NR_028458.1:n.876_887dup
NR_028459.1:n.1027_1038dup
NR_028460.1:n.402_413dup
NR_028461.1:n.885_896dup
NR_028462.1:n.864_875dup
NR_028463.1:n.576_587dup
NR_028464.1:n.874_885dup
NR_028465.1:n.896_907dup
NR_028466.1:n.522_533dup
NR_028467.1:n.888_899dup
NR_028468.1:n.720_731dup
NR_028469.1:n.734_745dup
NR_028470.1:n.192_203dup
NR_031765.1:n.389_400dup
NM_001127696.2:c.859_870dup NP_001121168.1:p.Gln290_Gly291insGlnGlnGlnGln
NM_001164774.2:c.221_232dup NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAla
NM_001164776.2:c.266_277dup NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAla
NM_001164777.2:c.101_112dup NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAla
NM_001164778.2:c.419_430dup NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAla
NM_001164779.2:c.541_552dup NP_001158251.1:p.Gln184_Gly185insGlnGlnGlnGln
NM_001164780.2:c.367_378dup NP_001158252.1:p.Gln126_Gly127insGlnGlnGlnGln
NM_001164782.2:c.56_67dup NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAla
NM_004993.6:c.904_915dup MANE Select NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGln
NM_030660.5:c.739_750dup NP_109376.1:p.Gln250_Gly251insGlnGlnGlnGln
NR_028453.2:n.848_859dup
NR_028454.2:n.683_694dup
NR_028455.2:n.902_913dup
NR_028456.2:n.737_748dup
NR_028457.2:n.993_1004dup
NR_028458.2:n.837_848dup
NR_028459.2:n.988_999dup
NR_028460.2:n.363_374dup
NR_028461.2:n.846_857dup
NR_028462.2:n.825_836dup
NR_028463.2:n.537_548dup
NR_028464.2:n.835_846dup
NR_028465.2:n.857_868dup
NR_028466.2:n.483_494dup
NR_028467.2:n.849_860dup
NR_028468.2:n.681_692dup
NR_028469.2:n.695_706dup
NR_028470.2:n.153_164dup
NR_031765.2:n.350_361dup
NM_001127697.3:c.751_762dup NP_001121169.2:p.Gln254_Gly255insGlnGlnGlnGln
NM_001164781.2:c.694_705dup NP_001158253.1:p.Gln235_Gly236insGlnGlnGlnGln