Canonical Allele Identifier: CA2802602396
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCCGCTGCTGCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCCGCTGCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCCGCTGCTGCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCCGCTGCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCCGCTGCTGCTGCTGCTG NCBI36
NG_008198.2:g.40603_40604insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*581_*582insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*581_*582insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000554672.6:c.370_371insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.2:p.Gln123_Gln124insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*317_*318insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*317_*318insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556315.6:c.*581_*582insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*581_*582insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557030.6:c.*102_*103insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*102_*103insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.6:c.370_371insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.2:p.Gln123_Gln124insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.907_908insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select ENSP00000496695.1:p.Gln302_Gln303insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*102_*103insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000496590.1:n.*102_*103insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000647161.1:c.907_908insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000493680.1:p.Gln302_Gln303insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.742_743insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000339110.6:p.Gln247_Gln248insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*581_*582insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*581_*582insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000393287.9:c.754_755insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000376965.6:p.Gln251_Gln252insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.697_698insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000389376.3:p.Gln232_Gln233insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.370_371insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000425322.1:p.Gln123_Gln124insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.862_863insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000426697.1:p.Gln287_Gln288insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12232_117-12231insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000532032.5:c.907_908insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000437157.1:p.Gln302_Gln303insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.934_935insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000445618.2:p.Gln311_Gln312insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.645_646insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553309.5:n.941_942insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553488.5:c.*722_*723insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452461.1:n.*722_*723insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000553491.5:c.754_755insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451996.1:p.Gln251_Gln252insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.830_831insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553570.5:c.*366_*367insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451405.1:n.*366_*367insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000553686.5:n.788_789insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554040.5:n.511_512insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554214.5:n.690_691insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554350.5:c.*507_*508insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451103.1:n.*507_*508insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000554491.5:n.983_984insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554592.5:c.904_905insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451385.1:p.Gln301_Gln302insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.613_614insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.1:p.Gln204_Gln205insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*366_*367insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451771.1:n.*366_*367insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000555381.5:c.697_698insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451001.1:p.Gln232_Gln233insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*414_*415insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451910.1:n.*414_*415insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000555958.5:n.776_777insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556082.5:c.*317_*318insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*317_*318insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556220.5:c.589_590insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450641.1:p.Gln196_Gln197insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*570_*571insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451733.1:n.*570_*571insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556288.5:c.*558_*559insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450566.1:n.*558_*559insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556315.5:c.*581_*582insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*581_*582insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556339.5:n.444_445insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556374.5:c.*635_*636insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451399.1:n.*635_*636insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556644.5:n.291_292insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556671.5:c.*485_*486insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451693.1:n.*485_*486insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556898.5:c.*404_*405insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451769.1:n.*404_*405insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556958.5:c.*366_*367insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452532.1:n.*366_*367insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557030.5:c.*102_*103insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*102_*103insGGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557311.5:c.370_371insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.1:p.Gln123_Gln124insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.907_908insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000478320.1:p.Gln302_Gln303insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*65_*66insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000481998.1:n.*65_*66insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000620536.4:c.934_935insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000484016.1:p.Gln311_Gln312insArgGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCCGCTGCTGCTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.862_863insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln287_Gln288insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.754_755insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln251_Gln252insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.224_225insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala75_Ala76insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.269_270insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala90_Ala91insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.104_105insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala35_Ala36insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.422_423insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala141_Ala142insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.544_545insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln181_Gln182insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.370_371insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln123_Gln124insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.697_698insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln232_Gln233insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.59_60insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala20_Ala21insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.907_908insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_004984.2:p.Gln302_Gln303insArgGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.4:c.742_743insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln247_Gln248insArgGlnGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.1:n.890_891insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.1:n.725_726insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.1:n.944_945insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.1:n.779_780insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.1:n.1035_1036insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.1:n.879_880insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.1:n.1030_1031insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.1:n.405_406insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.1:n.888_889insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.1:n.867_868insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.1:n.579_580insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.1:n.877_878insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.1:n.899_900insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.1:n.525_526insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.1:n.891_892insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.1:n.723_724insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.1:n.737_738insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.1:n.195_196insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.1:n.392_393insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127696.2:c.862_863insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln287_Gln288insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.224_225insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Ala75_Ala76insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.269_270insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Ala90_Ala91insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.104_105insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Ala35_Ala36insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.422_423insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Ala141_Ala142insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.544_545insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln181_Gln182insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.370_371insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln123_Gln124insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.59_60insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Ala20_Ala21insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.907_908insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select NP_004984.2:p.Gln302_Gln303insArgGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.5:c.742_743insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln247_Gln248insArgGlnGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.2:n.851_852insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.2:n.686_687insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.2:n.905_906insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.2:n.740_741insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.2:n.996_997insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.2:n.840_841insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.2:n.991_992insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.2:n.366_367insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.2:n.849_850insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.2:n.828_829insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.2:n.540_541insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.2:n.838_839insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.2:n.860_861insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.2:n.486_487insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.2:n.852_853insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.2:n.684_685insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.2:n.698_699insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.2:n.156_157insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.2:n.353_354insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127697.3:c.754_755insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln251_Gln252insArgGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.697_698insGGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln232_Gln233insArgGlnGlnGlnGlnGlnGlnGlnGlnG...