Canonical Allele Identifier: CA919478768
Gene: ATXN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCGG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCGG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCGG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCGG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCGG NCBI36
NG_008198.2:g.40588_40589insCGCAGCAGCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554672.6:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.2:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*302_*303insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*302_*303insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556315.6:c.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557030.6:c.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557311.6:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.2:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select ENSP00000496695.1:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000496590.1:n.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000647161.1:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000493680.1:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.727_728insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000339110.6:p.Gln242_Gln243insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000393287.9:c.739_740insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000376965.6:p.Gln246_Gln247insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.682_683insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000389376.3:p.Gln227_Gln228insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000425322.1:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.847_848insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000426697.1:p.Gln282_Gln283insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12247_117-12246insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000532032.5:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000437157.1:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.919_920insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000445618.2:p.Gln306_Gln307insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.630_631insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553309.5:n.926_927insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553488.5:c.*707_*708insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452461.1:n.*707_*708insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553491.5:c.739_740insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451996.1:p.Gln246_Gln247insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.815_816insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553570.5:c.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451405.1:n.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553686.5:n.773_774insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554040.5:n.496_497insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554214.5:n.675_676insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554350.5:c.*492_*493insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451103.1:n.*492_*493insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554491.5:n.968_969insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554592.5:c.889_890insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451385.1:p.Gln296_Gln297insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.598_599insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.1:p.Gln199_Gln200insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451771.1:n.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000555381.5:c.682_683insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451001.1:p.Gln227_Gln228insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*399_*400insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451910.1:n.*399_*400insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000555958.5:n.761_762insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556082.5:c.*302_*303insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*302_*303insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556220.5:c.574_575insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450641.1:p.Gln191_Gln192insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*555_*556insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451733.1:n.*555_*556insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556288.5:c.*543_*544insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450566.1:n.*543_*544insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556315.5:c.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556339.5:n.429_430insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556374.5:c.*620_*621insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451399.1:n.*620_*621insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556644.5:n.276_277insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556671.5:c.*470_*471insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451693.1:n.*470_*471insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556898.5:c.*389_*390insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451769.1:n.*389_*390insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556958.5:c.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452532.1:n.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557030.5:c.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000557311.5:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.1:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000478320.1:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*50_*51insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000481998.1:n.*50_*51insCGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000620536.4:c.919_920insCGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000484016.1:p.Gln306_Gln307insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCGG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.847_848insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln282_Gln283insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001127697.2:c.739_740insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln246_Gln247insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164774.1:c.209_210insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Thr70_Ala71insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.1:c.254_255insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Thr85_Ala86insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.1:c.89_90insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Thr30_Ala31insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.1:c.407_408insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Thr136_Ala137insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.1:c.529_530insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln176_Gln177insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164780.1:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164781.1:c.682_683insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln227_Gln228insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164782.1:c.44_45insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Thr15_Ala16insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.5:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_004984.2:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.4:c.727_728insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln242_Gln243insProGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.1:n.875_876insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.1:n.710_711insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.1:n.929_930insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.1:n.764_765insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.1:n.1020_1021insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.1:n.864_865insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.1:n.1015_1016insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.1:n.390_391insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.1:n.873_874insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.1:n.852_853insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.1:n.564_565insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.1:n.862_863insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.1:n.884_885insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.1:n.510_511insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.1:n.876_877insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.1:n.708_709insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.1:n.722_723insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.1:n.180_181insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.1:n.377_378insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127696.2:c.847_848insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln282_Gln283insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164774.2:c.209_210insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Thr70_Ala71insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164776.2:c.254_255insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Thr85_Ala86insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164777.2:c.89_90insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Thr30_Ala31insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164778.2:c.407_408insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Thr136_Ala137insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164779.2:c.529_530insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln176_Gln177insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164780.2:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164782.2:c.44_45insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Thr15_Ala16insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_004993.6:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select NP_004984.2:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnGln
NM_030660.5:c.727_728insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln242_Gln243insProGlnGlnGlnGlnGlnGlnGlnGln
NR_028453.2:n.836_837insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.2:n.671_672insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.2:n.890_891insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.2:n.725_726insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.2:n.981_982insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.2:n.825_826insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.2:n.976_977insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.2:n.351_352insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.2:n.834_835insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.2:n.813_814insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.2:n.525_526insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.2:n.823_824insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.2:n.845_846insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.2:n.471_472insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.2:n.837_838insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.2:n.669_670insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.2:n.683_684insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.2:n.141_142insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.2:n.338_339insCGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127697.3:c.739_740insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln246_Gln247insProGlnGlnGlnGlnGlnGlnGlnGln
NM_001164781.2:c.682_683insCGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln227_Gln228insProGlnGlnGlnGlnGlnGlnGlnGln