Canonical Allele Identifier: CA2626175248
Gene: ATXN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTG NCBI36
NG_008198.2:g.40609_40610insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*587_*588insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*587_*588insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000554672.6:c.376_377insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.2:p.Gln125_Gln126insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*323_*324insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*323_*324insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556315.6:c.*587_*588insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*587_*588insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557030.6:c.*108_*109insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*108_*109insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.6:c.376_377insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.2:p.Gln125_Gln126insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.913_914insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select ENSP00000496695.1:p.Gln304_Gln305insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*108_*109insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000496590.1:n.*108_*109insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000647161.1:c.913_914insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000493680.1:p.Gln304_Gln305insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.748_749insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000339110.6:p.Gln249_Gln250insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*587_*588insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*587_*588insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000393287.9:c.760_761insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000376965.6:p.Gln253_Gln254insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.703_704insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000389376.3:p.Gln234_Gln235insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.376_377insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000425322.1:p.Gln125_Gln126insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.868_869insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000426697.1:p.Gln289_Gln290insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12226_117-12225insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000532032.5:c.913_914insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000437157.1:p.Gln304_Gln305insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.940_941insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000445618.2:p.Gln313_Gln314insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.651_652insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553309.5:n.947_948insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553488.5:c.*728_*729insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452461.1:n.*728_*729insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000553491.5:c.760_761insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451996.1:p.Gln253_Gln254insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.836_837insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553570.5:c.*372_*373insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451405.1:n.*372_*373insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000553686.5:n.794_795insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554040.5:n.517_518insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554214.5:n.696_697insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554350.5:c.*513_*514insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451103.1:n.*513_*514insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000554491.5:n.989_990insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554592.5:c.910_911insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451385.1:p.Gln303_Gln304insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.619_620insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.1:p.Gln206_Gln207insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*372_*373insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451771.1:n.*372_*373insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000555381.5:c.703_704insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451001.1:p.Gln234_Gln235insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*420_*421insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451910.1:n.*420_*421insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000555958.5:n.782_783insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556082.5:c.*323_*324insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*323_*324insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556220.5:c.595_596insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450641.1:p.Gln198_Gln199insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*576_*577insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451733.1:n.*576_*577insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556288.5:c.*564_*565insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450566.1:n.*564_*565insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556315.5:c.*587_*588insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*587_*588insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556339.5:n.450_451insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556374.5:c.*641_*642insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451399.1:n.*641_*642insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556644.5:n.297_298insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556671.5:c.*491_*492insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451693.1:n.*491_*492insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556898.5:c.*410_*411insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451769.1:n.*410_*411insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556958.5:c.*372_*373insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452532.1:n.*372_*373insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557030.5:c.*108_*109insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*108_*109insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.5:c.376_377insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.1:p.Gln125_Gln126insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.913_914insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000478320.1:p.Gln304_Gln305insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*71_*72insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000481998.1:n.*71_*72insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000620536.4:c.940_941insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000484016.1:p.Gln313_Gln314insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.868_869insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln289_Gln290insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.760_761insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln253_Gln254insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.230_231insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.275_276insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.110_111insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.428_429insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.550_551insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln183_Gln184insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.376_377insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln125_Gln126insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.703_704insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln234_Gln235insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.65_66insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.913_914insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_004984.2:p.Gln304_Gln305insArgGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.748_749insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln249_Gln250insArgGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.896_897insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.1:n.731_732insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.1:n.950_951insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.1:n.785_786insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.1:n.1041_1042insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.1:n.885_886insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.1:n.1036_1037insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.1:n.411_412insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.1:n.894_895insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.1:n.873_874insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.1:n.585_586insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.1:n.883_884insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.1:n.905_906insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.1:n.531_532insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.1:n.897_898insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.1:n.729_730insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.1:n.743_744insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.1:n.201_202insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.1:n.398_399insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127696.2:c.868_869insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln289_Gln290insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.230_231insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala77_Gly78insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.275_276insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala92_Gly93insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.110_111insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala37_Gly38insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.428_429insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala143_Gly144insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.550_551insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln183_Gln184insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.376_377insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln125_Gln126insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.65_66insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala22_Gly23insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.913_914insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select NP_004984.2:p.Gln304_Gln305insArgGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.748_749insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln249_Gln250insArgGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.857_858insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.2:n.692_693insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.2:n.911_912insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.2:n.746_747insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.2:n.1002_1003insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.2:n.846_847insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.2:n.997_998insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.2:n.372_373insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.2:n.855_856insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.2:n.834_835insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.2:n.546_547insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.2:n.844_845insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.2:n.866_867insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.2:n.492_493insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.2:n.858_859insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.2:n.690_691insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.2:n.704_705insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.2:n.162_163insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.2:n.359_360insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127697.3:c.760_761insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln253_Gln254insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.703_704insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln234_Gln235insArgGlnGlnGlnGlnGlnGlnGlnGlnG...