Canonical Allele Identifier: CA207821
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071043_92071045del , CM000676.2:g.92071043_92071045del GRCh38
NC_000014.8:g.92537387_92537389del , CM000676.1:g.92537387_92537389del GRCh37
NC_000014.7:g.91607140_91607142del NCBI36
NG_008198.2:g.40578_40580del

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*556_*558del ENSP00000352324.5:n.*556_*558del
ENST00000554672.6:c.345_347del ENSP00000451417.2:p.Lys116del
ENST00000556082.6:c.*292_*294del ENSP00000450492.1:n.*292_*294del
ENST00000556315.6:c.*556_*558del ENSP00000451132.1:n.*556_*558del
ENST00000557030.6:c.*77_*79del ENSP00000452139.1:n.*77_*79del
ENST00000557311.6:c.345_347del ENSP00000450642.2:p.Lys116del
ENST00000644486.2:c.882_884del MANE Select ENSP00000496695.1:p.Lys295del
ENST00000646485.1:c.*77_*79del ENSP00000496590.1:n.*77_*79del
ENST00000647161.1:c.882_884del ENSP00000493680.1:p.Lys295del
ENST00000340660.10:c.717_719del ENSP00000339110.6:p.Lys240del
ENST00000359366.9:c.*556_*558del ENSP00000352324.5:n.*556_*558del
ENST00000393287.9:c.729_731del ENSP00000376965.6:p.Lys244del
ENST00000429774.6:c.672_674del ENSP00000389376.3:p.Lys225del
ENST00000502250.5:c.345_347del ENSP00000425322.1:p.Lys116del
ENST00000503767.5:c.837_839del ENSP00000426697.1:p.Lys280del
ENST00000526245.1:n.117-12257_117-12255del
ENST00000532032.5:c.882_884del ENSP00000437157.1:p.Lys295del
ENST00000545170.5:c.909_911del ENSP00000445618.2:p.Lys304del
ENST00000553287.5:n.620_622del
ENST00000553309.5:n.916_918del
ENST00000553488.5:c.*697_*699del ENSP00000452461.1:n.*697_*699del
ENST00000553491.5:c.729_731del ENSP00000451996.1:p.Lys244del
ENST00000553498.5:n.805_807del
ENST00000553570.5:c.*341_*343del ENSP00000451405.1:n.*341_*343del
ENST00000553686.5:n.763_765del
ENST00000554040.5:n.486_488del
ENST00000554214.5:n.665_667del
ENST00000554350.5:c.*482_*484del ENSP00000451103.1:n.*482_*484del
ENST00000554491.5:n.958_960del
ENST00000554592.5:c.879_881del ENSP00000451385.1:p.Lys294del
ENST00000554672.5:c.588_590del ENSP00000451417.1:p.Lys197del
ENST00000554994.5:c.*341_*343del ENSP00000451771.1:n.*341_*343del
ENST00000555381.5:c.672_674del ENSP00000451001.1:p.Lys225del
ENST00000555816.5:c.*389_*391del ENSP00000451910.1:n.*389_*391del
ENST00000555958.5:n.751_753del
ENST00000556082.5:c.*292_*294del ENSP00000450492.1:n.*292_*294del
ENST00000556220.5:c.564_566del ENSP00000450641.1:p.Lys189del
ENST00000556274.5:c.*545_*547del ENSP00000451733.1:n.*545_*547del
ENST00000556288.5:c.*533_*535del ENSP00000450566.1:n.*533_*535del
ENST00000556315.5:c.*556_*558del ENSP00000451132.1:n.*556_*558del
ENST00000556339.5:n.419_421del
ENST00000556374.5:c.*610_*612del ENSP00000451399.1:n.*610_*612del
ENST00000556644.5:n.266_268del
ENST00000556671.5:c.*460_*462del ENSP00000451693.1:n.*460_*462del
ENST00000556898.5:c.*379_*381del ENSP00000451769.1:n.*379_*381del
ENST00000556958.5:c.*341_*343del ENSP00000452532.1:n.*341_*343del
ENST00000557030.5:c.*77_*79del ENSP00000452139.1:n.*77_*79del
ENST00000557311.5:c.345_347del ENSP00000450642.1:p.Lys116del
ENST00000558190.5:c.882_884del ENSP00000478320.1:p.Lys295del
ENST00000617719.4:c.*40_*42del ENSP00000481998.1:n.*40_*42del
ENST00000620536.4:c.909_911del ENSP00000484016.1:p.Lys304del
NM_001127696.1:c.837_839del NP_001121168.1:p.Lys280del
NM_001127697.2:c.729_731del NP_001121169.2:p.Lys244del
NM_001164774.1:c.199_201del NP_001158246.1:p.Lys67del
NM_001164776.1:c.244_246del NP_001158248.1:p.Lys82del
NM_001164777.1:c.79_81del NP_001158249.1:p.Lys27del
NM_001164778.1:c.397_399del NP_001158250.1:p.Lys133del
NM_001164779.1:c.519_521del NP_001158251.1:p.Lys174del
NM_001164780.1:c.345_347del NP_001158252.1:p.Lys116del
NM_001164781.1:c.672_674del NP_001158253.1:p.Lys225del
NM_001164782.1:c.34_36del NP_001158254.1:p.Lys12del
NM_004993.5:c.882_884del NP_004984.2:p.Lys295del
NM_030660.4:c.717_719del NP_109376.1:p.Lys240del
NR_028453.1:n.865_867del
NR_028454.1:n.700_702del
NR_028455.1:n.919_921del
NR_028456.1:n.754_756del
NR_028457.1:n.1010_1012del
NR_028458.1:n.854_856del
NR_028459.1:n.1005_1007del
NR_028460.1:n.380_382del
NR_028461.1:n.863_865del
NR_028462.1:n.842_844del
NR_028463.1:n.554_556del
NR_028464.1:n.852_854del
NR_028465.1:n.874_876del
NR_028466.1:n.500_502del
NR_028467.1:n.866_868del
NR_028468.1:n.698_700del
NR_028469.1:n.712_714del
NR_028470.1:n.170_172del
NR_031765.1:n.367_369del
NM_001127696.2:c.837_839del NP_001121168.1:p.Lys280del
NM_001164774.2:c.199_201del NP_001158246.1:p.Lys67del
NM_001164776.2:c.244_246del NP_001158248.1:p.Lys82del
NM_001164777.2:c.79_81del NP_001158249.1:p.Lys27del
NM_001164778.2:c.397_399del NP_001158250.1:p.Lys133del
NM_001164779.2:c.519_521del NP_001158251.1:p.Lys174del
NM_001164780.2:c.345_347del NP_001158252.1:p.Lys116del
NM_001164782.2:c.34_36del NP_001158254.1:p.Lys12del
NM_004993.6:c.882_884del MANE Select NP_004984.2:p.Lys295del
NM_030660.5:c.717_719del NP_109376.1:p.Lys240del
NR_028453.2:n.826_828del
NR_028454.2:n.661_663del
NR_028455.2:n.880_882del
NR_028456.2:n.715_717del
NR_028457.2:n.971_973del
NR_028458.2:n.815_817del
NR_028459.2:n.966_968del
NR_028460.2:n.341_343del
NR_028461.2:n.824_826del
NR_028462.2:n.803_805del
NR_028463.2:n.515_517del
NR_028464.2:n.813_815del
NR_028465.2:n.835_837del
NR_028466.2:n.461_463del
NR_028467.2:n.827_829del
NR_028468.2:n.659_661del
NR_028469.2:n.673_675del
NR_028470.2:n.131_133del
NR_031765.2:n.328_330del
NM_001127697.3:c.729_731del NP_001121169.2:p.Lys244del
NM_001164781.2:c.672_674del NP_001158253.1:p.Lys225del