Canonical Allele Identifier: CA919478769
Gene: ATXN3 HGNC NCBI

Linked Data

dbSNP Id: rs1566922432

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCGG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCGG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCGG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCGG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCGG NCBI36
NG_008198.2:g.40588_40589insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000554672.6:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.2:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*302_*303insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*302_*303insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556315.6:c.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557030.6:c.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.6:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.2:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select ENSP00000496695.1:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000496590.1:n.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000647161.1:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000493680.1:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.727_728insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000339110.6:p.Gln242_Gln243insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000393287.9:c.739_740insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000376965.6:p.Gln246_Gln247insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.682_683insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000389376.3:p.Gln227_Gln228insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000425322.1:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.847_848insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000426697.1:p.Gln282_Gln283insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12247_117-12246insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000532032.5:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000437157.1:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.919_920insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000445618.2:p.Gln306_Gln307insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.630_631insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553309.5:n.926_927insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553488.5:c.*707_*708insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452461.1:n.*707_*708insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000553491.5:c.739_740insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451996.1:p.Gln246_Gln247insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.815_816insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000553570.5:c.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451405.1:n.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000553686.5:n.773_774insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554040.5:n.496_497insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554214.5:n.675_676insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554350.5:c.*492_*493insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451103.1:n.*492_*493insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000554491.5:n.968_969insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000554592.5:c.889_890insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451385.1:p.Gln296_Gln297insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.598_599insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451417.1:p.Gln199_Gln200insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451771.1:n.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000555381.5:c.682_683insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451001.1:p.Gln227_Gln228insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*399_*400insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451910.1:n.*399_*400insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000555958.5:n.761_762insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556082.5:c.*302_*303insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*302_*303insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556220.5:c.574_575insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450641.1:p.Gln191_Gln192insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*555_*556insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451733.1:n.*555_*556insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556288.5:c.*543_*544insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450566.1:n.*543_*544insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556315.5:c.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*566_*567insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556339.5:n.429_430insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556374.5:c.*620_*621insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451399.1:n.*620_*621insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556644.5:n.276_277insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
ENST00000556671.5:c.*470_*471insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451693.1:n.*470_*471insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556898.5:c.*389_*390insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000451769.1:n.*389_*390insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000556958.5:c.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452532.1:n.*351_*352insCGCAGCAGCAGCAGCAGCAGCAGCAGCAG...
ENST00000557030.5:c.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*87_*88insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557311.5:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000450642.1:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000478320.1:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*50_*51insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000481998.1:n.*50_*51insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000620536.4:c.919_920insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ENSP00000484016.1:p.Gln306_Gln307insProGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCGG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.847_848insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln282_Gln283insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.739_740insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln246_Gln247insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.209_210insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Thr70_Ala71insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.254_255insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Thr85_Ala86insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.89_90insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Thr30_Ala31insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.407_408insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Thr136_Ala137insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.529_530insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln176_Gln177insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.682_683insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln227_Gln228insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.44_45insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Thr15_Ala16insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_004984.2:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.727_728insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln242_Gln243insProGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.875_876insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.1:n.710_711insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.1:n.929_930insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.1:n.764_765insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.1:n.1020_1021insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.1:n.864_865insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.1:n.1015_1016insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.1:n.390_391insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.1:n.873_874insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.1:n.852_853insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.1:n.564_565insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.1:n.862_863insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.1:n.884_885insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.1:n.510_511insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.1:n.876_877insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.1:n.708_709insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.1:n.722_723insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.1:n.180_181insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.1:n.377_378insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127696.2:c.847_848insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gln282_Gln283insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.209_210insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Thr70_Ala71insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.254_255insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Thr85_Ala86insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.89_90insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Thr30_Ala31insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.407_408insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Thr136_Ala137insAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.529_530insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gln176_Gln177insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.355_356insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gln118_Gln119insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.44_45insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Thr15_Ala16insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.892_893insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC MANE Select NP_004984.2:p.Gln297_Gln298insProGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.727_728insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gln242_Gln243insProGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.836_837insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028454.2:n.671_672insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028455.2:n.890_891insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028456.2:n.725_726insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028457.2:n.981_982insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028458.2:n.825_826insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028459.2:n.976_977insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028460.2:n.351_352insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028461.2:n.834_835insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028462.2:n.813_814insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028463.2:n.525_526insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028464.2:n.823_824insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028465.2:n.845_846insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028466.2:n.471_472insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028467.2:n.837_838insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028468.2:n.669_670insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028469.2:n.683_684insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_028470.2:n.141_142insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NR_031765.2:n.338_339insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC
NM_001127697.3:c.739_740insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gln246_Gln247insProGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.682_683insCGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gln227_Gln228insProGlnGlnGlnGlnGlnGlnGlnGlnG...