Canonical Allele Identifier: CA645582575
Gene: ATXN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071043_92071044delinsGC , CM000676.2:g.92071043_92071044delinsGC GRCh38
NC_000014.8:g.92537387_92537388delinsGC , CM000676.1:g.92537387_92537388delinsGC GRCh37
NC_000014.7:g.91607140_91607141delinsGC NCBI36
NG_008198.2:g.40578_40579delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*556_*557delinsGC ENSP00000352324.5:n.*556_*557delinsGC
ENST00000554672.6:c.345_346delinsGC ENSP00000451417.2:p.Lys116Gln
ENST00000556082.6:c.*292_*293delinsGC ENSP00000450492.1:n.*292_*293delinsGC
ENST00000556315.6:c.*556_*557delinsGC ENSP00000451132.1:n.*556_*557delinsGC
ENST00000557030.6:c.*77_*78delinsGC ENSP00000452139.1:n.*77_*78delinsGC
ENST00000557311.6:c.345_346delinsGC ENSP00000450642.2:p.Lys116Gln
ENST00000644486.2:c.882_883delinsGC MANE Select ENSP00000496695.1:p.Lys295Gln
ENST00000646485.1:c.*77_*78delinsGC ENSP00000496590.1:n.*77_*78delinsGC
ENST00000647161.1:c.882_883delinsGC ENSP00000493680.1:p.Lys295Gln
ENST00000340660.10:c.717_718delinsGC ENSP00000339110.6:p.Lys240Gln
ENST00000359366.9:c.*556_*557delinsGC ENSP00000352324.5:n.*556_*557delinsGC
ENST00000393287.9:c.729_730delinsGC ENSP00000376965.6:p.Lys244Gln
ENST00000429774.6:c.672_673delinsGC ENSP00000389376.3:p.Lys225Gln
ENST00000502250.5:c.345_346delinsGC ENSP00000425322.1:p.Lys116Gln
ENST00000503767.5:c.837_838delinsGC ENSP00000426697.1:p.Lys280Gln
ENST00000526245.1:n.117-12257_117-12256delinsGC
ENST00000532032.5:c.882_883delinsGC ENSP00000437157.1:p.Lys295Gln
ENST00000545170.5:c.909_910delinsGC ENSP00000445618.2:p.Lys304Gln
ENST00000553287.5:n.620_621delinsGC
ENST00000553309.5:n.916_917delinsGC
ENST00000553488.5:c.*697_*698delinsGC ENSP00000452461.1:n.*697_*698delinsGC
ENST00000553491.5:c.729_730delinsGC ENSP00000451996.1:p.Lys244Gln
ENST00000553498.5:n.805_806delinsGC
ENST00000553570.5:c.*341_*342delinsGC ENSP00000451405.1:n.*341_*342delinsGC
ENST00000553686.5:n.763_764delinsGC
ENST00000554040.5:n.486_487delinsGC
ENST00000554214.5:n.665_666delinsGC
ENST00000554350.5:c.*482_*483delinsGC ENSP00000451103.1:n.*482_*483delinsGC
ENST00000554491.5:n.958_959delinsGC
ENST00000554592.5:c.879_880delinsGC ENSP00000451385.1:p.Lys294Gln
ENST00000554672.5:c.588_589delinsGC ENSP00000451417.1:p.Lys197Gln
ENST00000554994.5:c.*341_*342delinsGC ENSP00000451771.1:n.*341_*342delinsGC
ENST00000555381.5:c.672_673delinsGC ENSP00000451001.1:p.Lys225Gln
ENST00000555816.5:c.*389_*390delinsGC ENSP00000451910.1:n.*389_*390delinsGC
ENST00000555958.5:n.751_752delinsGC
ENST00000556082.5:c.*292_*293delinsGC ENSP00000450492.1:n.*292_*293delinsGC
ENST00000556220.5:c.564_565delinsGC ENSP00000450641.1:p.Lys189Gln
ENST00000556274.5:c.*545_*546delinsGC ENSP00000451733.1:n.*545_*546delinsGC
ENST00000556288.5:c.*533_*534delinsGC ENSP00000450566.1:n.*533_*534delinsGC
ENST00000556315.5:c.*556_*557delinsGC ENSP00000451132.1:n.*556_*557delinsGC
ENST00000556339.5:n.419_420delinsGC
ENST00000556374.5:c.*610_*611delinsGC ENSP00000451399.1:n.*610_*611delinsGC
ENST00000556644.5:n.266_267delinsGC
ENST00000556671.5:c.*460_*461delinsGC ENSP00000451693.1:n.*460_*461delinsGC
ENST00000556898.5:c.*379_*380delinsGC ENSP00000451769.1:n.*379_*380delinsGC
ENST00000556958.5:c.*341_*342delinsGC ENSP00000452532.1:n.*341_*342delinsGC
ENST00000557030.5:c.*77_*78delinsGC ENSP00000452139.1:n.*77_*78delinsGC
ENST00000557311.5:c.345_346delinsGC ENSP00000450642.1:p.Lys116Gln
ENST00000558190.5:c.882_883delinsGC ENSP00000478320.1:p.Lys295Gln
ENST00000617719.4:c.*40_*41delinsGC ENSP00000481998.1:n.*40_*41delinsGC
ENST00000620536.4:c.909_910delinsGC ENSP00000484016.1:p.Lys304Gln
NM_001127696.1:c.837_838delinsGC NP_001121168.1:p.Lys280Gln
NM_001127697.2:c.729_730delinsGC NP_001121169.2:p.Lys244Gln
NM_001164774.1:c.199_200delinsGC NP_001158246.1:p.Lys67Ala
NM_001164776.1:c.244_245delinsGC NP_001158248.1:p.Lys82Ala
NM_001164777.1:c.79_80delinsGC NP_001158249.1:p.Lys27Ala
NM_001164778.1:c.397_398delinsGC NP_001158250.1:p.Lys133Ala
NM_001164779.1:c.519_520delinsGC NP_001158251.1:p.Lys174Gln
NM_001164780.1:c.345_346delinsGC NP_001158252.1:p.Lys116Gln
NM_001164781.1:c.672_673delinsGC NP_001158253.1:p.Lys225Gln
NM_001164782.1:c.34_35delinsGC NP_001158254.1:p.Lys12Ala
NM_004993.5:c.882_883delinsGC NP_004984.2:p.Lys295Gln
NM_030660.4:c.717_718delinsGC NP_109376.1:p.Lys240Gln
NR_028453.1:n.865_866delinsGC
NR_028454.1:n.700_701delinsGC
NR_028455.1:n.919_920delinsGC
NR_028456.1:n.754_755delinsGC
NR_028457.1:n.1010_1011delinsGC
NR_028458.1:n.854_855delinsGC
NR_028459.1:n.1005_1006delinsGC
NR_028460.1:n.380_381delinsGC
NR_028461.1:n.863_864delinsGC
NR_028462.1:n.842_843delinsGC
NR_028463.1:n.554_555delinsGC
NR_028464.1:n.852_853delinsGC
NR_028465.1:n.874_875delinsGC
NR_028466.1:n.500_501delinsGC
NR_028467.1:n.866_867delinsGC
NR_028468.1:n.698_699delinsGC
NR_028469.1:n.712_713delinsGC
NR_028470.1:n.170_171delinsGC
NR_031765.1:n.367_368delinsGC
NM_001127696.2:c.837_838delinsGC NP_001121168.1:p.Lys280Gln
NM_001164774.2:c.199_200delinsGC NP_001158246.1:p.Lys67Ala
NM_001164776.2:c.244_245delinsGC NP_001158248.1:p.Lys82Ala
NM_001164777.2:c.79_80delinsGC NP_001158249.1:p.Lys27Ala
NM_001164778.2:c.397_398delinsGC NP_001158250.1:p.Lys133Ala
NM_001164779.2:c.519_520delinsGC NP_001158251.1:p.Lys174Gln
NM_001164780.2:c.345_346delinsGC NP_001158252.1:p.Lys116Gln
NM_001164782.2:c.34_35delinsGC NP_001158254.1:p.Lys12Ala
NM_004993.6:c.882_883delinsGC MANE Select NP_004984.2:p.Lys295Gln
NM_030660.5:c.717_718delinsGC NP_109376.1:p.Lys240Gln
NR_028453.2:n.826_827delinsGC
NR_028454.2:n.661_662delinsGC
NR_028455.2:n.880_881delinsGC
NR_028456.2:n.715_716delinsGC
NR_028457.2:n.971_972delinsGC
NR_028458.2:n.815_816delinsGC
NR_028459.2:n.966_967delinsGC
NR_028460.2:n.341_342delinsGC
NR_028461.2:n.824_825delinsGC
NR_028462.2:n.803_804delinsGC
NR_028463.2:n.515_516delinsGC
NR_028464.2:n.813_814delinsGC
NR_028465.2:n.835_836delinsGC
NR_028466.2:n.461_462delinsGC
NR_028467.2:n.827_828delinsGC
NR_028468.2:n.659_660delinsGC
NR_028469.2:n.673_674delinsGC
NR_028470.2:n.131_132delinsGC
NR_031765.2:n.328_329delinsGC
NM_001127697.3:c.729_730delinsGC NP_001121169.2:p.Lys244Gln
NM_001164781.2:c.672_673delinsGC NP_001158253.1:p.Lys225Gln