Canonical Allele Identifier: CA2626175247
Gene: ATXN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCGGCTGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCGGCTGCTGCTGCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCGGCTGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCGGCTGCTGCTGCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCGGCTGCTGCTGCTGCTGCTGCTG NCBI36
NG_008198.2:g.40609_40610insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*587_*588insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*587_*588insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000554672.6:c.376_377insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.2:p.Gln125_Gln126insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*323_*324insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*323_*324insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556315.6:c.*587_*588insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*587_*588insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557030.6:c.*108_*109insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*108_*109insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.6:c.376_377insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.2:p.Gln125_Gln126insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.913_914insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select ENSP00000496695.1:p.Gln304_Gln305insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*108_*109insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000496590.1:n.*108_*109insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000647161.1:c.913_914insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000493680.1:p.Gln304_Gln305insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.748_749insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000339110.6:p.Gln249_Gln250insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*587_*588insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*587_*588insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000393287.9:c.760_761insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000376965.6:p.Gln253_Gln254insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.703_704insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000389376.3:p.Gln234_Gln235insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.376_377insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000425322.1:p.Gln125_Gln126insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.868_869insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000426697.1:p.Gln289_Gln290insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12226_117-12225insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000532032.5:c.913_914insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000437157.1:p.Gln304_Gln305insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.940_941insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000445618.2:p.Gln313_Gln314insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.651_652insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553309.5:n.947_948insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553488.5:c.*728_*729insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452461.1:n.*728_*729insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000553491.5:c.760_761insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451996.1:p.Gln253_Gln254insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.836_837insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553570.5:c.*372_*373insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451405.1:n.*372_*373insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000553686.5:n.794_795insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554040.5:n.517_518insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554214.5:n.696_697insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554350.5:c.*513_*514insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451103.1:n.*513_*514insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000554491.5:n.989_990insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554592.5:c.910_911insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451385.1:p.Gln303_Gln304insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.619_620insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.1:p.Gln206_Gln207insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*372_*373insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451771.1:n.*372_*373insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000555381.5:c.703_704insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451001.1:p.Gln234_Gln235insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*420_*421insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451910.1:n.*420_*421insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000555958.5:n.782_783insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556082.5:c.*323_*324insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*323_*324insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556220.5:c.595_596insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450641.1:p.Gln198_Gln199insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*576_*577insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451733.1:n.*576_*577insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556288.5:c.*564_*565insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450566.1:n.*564_*565insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556315.5:c.*587_*588insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*587_*588insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556339.5:n.450_451insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556374.5:c.*641_*642insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451399.1:n.*641_*642insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556644.5:n.297_298insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556671.5:c.*491_*492insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451693.1:n.*491_*492insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556898.5:c.*410_*411insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451769.1:n.*410_*411insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556958.5:c.*372_*373insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452532.1:n.*372_*373insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557030.5:c.*108_*109insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*108_*109insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.5:c.376_377insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.1:p.Gln125_Gln126insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.913_914insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000478320.1:p.Gln304_Gln305insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*71_*72insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000481998.1:n.*71_*72insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000620536.4:c.940_941insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000484016.1:p.Gln313_Gln314insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCGGCTGCTGCTGCTGCTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.868_869insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln289_Gln290insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.760_761insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln253_Gln254insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.230_231insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.275_276insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.110_111insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.428_429insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.550_551insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln183_Gln184insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.376_377insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln125_Gln126insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.703_704insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln234_Gln235insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.65_66insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.913_914insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_004984.2:p.Gln304_Gln305insProGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.4:c.748_749insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln249_Gln250insProGlnGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.1:n.896_897insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.1:n.731_732insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.1:n.950_951insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.1:n.785_786insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.1:n.1041_1042insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.1:n.885_886insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.1:n.1036_1037insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.1:n.411_412insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.1:n.894_895insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.1:n.873_874insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.1:n.585_586insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.1:n.883_884insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.1:n.905_906insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.1:n.531_532insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.1:n.897_898insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.1:n.729_730insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.1:n.743_744insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.1:n.201_202insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.1:n.398_399insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127696.2:c.868_869insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln289_Gln290insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.230_231insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.275_276insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.110_111insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.428_429insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.550_551insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln183_Gln184insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.376_377insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln125_Gln126insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.65_66insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.913_914insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select NP_004984.2:p.Gln304_Gln305insProGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.5:c.748_749insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln249_Gln250insProGlnGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.2:n.857_858insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.2:n.692_693insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.2:n.911_912insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.2:n.746_747insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.2:n.1002_1003insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.2:n.846_847insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.2:n.997_998insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.2:n.372_373insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.2:n.855_856insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.2:n.834_835insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.2:n.546_547insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.2:n.844_845insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.2:n.866_867insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.2:n.492_493insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.2:n.858_859insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.2:n.690_691insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.2:n.704_705insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.2:n.162_163insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.2:n.359_360insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127697.3:c.760_761insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln253_Gln254insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.703_704insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln234_Gln235insProGlnGlnGlnGlnGlnGlnGlnGlnG...