Canonical Allele Identifier: CA2626174122
Gene: ATXN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTG NCBI36
NG_008198.2:g.40590_40591insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*568_*569insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*568_*569insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554672.6:c.357_358insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.2:p.Gln119_Gln120insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*304_*305insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*304_*305insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.6:c.*568_*569insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*568_*569insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.6:c.*89_*90insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*89_*90insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.6:c.357_358insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.2:p.Gln119_Gln120insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.894_895insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select ENSP00000496695.1:p.Gln298_Gln299insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*89_*90insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000496590.1:n.*89_*90insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000647161.1:c.894_895insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000493680.1:p.Gln298_Gln299insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.729_730insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000339110.6:p.Gln243_Gln244insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*568_*569insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*568_*569insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000393287.9:c.741_742insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000376965.6:p.Gln247_Gln248insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.684_685insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000389376.3:p.Gln228_Gln229insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.357_358insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000425322.1:p.Gln119_Gln120insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.849_850insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000426697.1:p.Gln283_Gln284insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12245_117-12244insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.894_895insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000437157.1:p.Gln298_Gln299insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.921_922insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000445618.2:p.Gln307_Gln308insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.632_633insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.928_929insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*709_*710insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*709_*710insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553491.5:c.741_742insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451996.1:p.Gln247_Gln248insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.817_818insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*353_*354insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*353_*354insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553686.5:n.775_776insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.498_499insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.677_678insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*494_*495insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*494_*495insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554491.5:n.970_971insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.891_892insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451385.1:p.Gln297_Gln298insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.600_601insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.1:p.Gln200_Gln201insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*353_*354insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*353_*354insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555381.5:c.684_685insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451001.1:p.Gln228_Gln229insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*401_*402insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*401_*402insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555958.5:n.763_764insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*304_*305insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*304_*305insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556220.5:c.576_577insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450641.1:p.Gln192_Gln193insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*557_*558insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*557_*558insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556288.5:c.*545_*546insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*545_*546insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.5:c.*568_*569insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*568_*569insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556339.5:n.431_432insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*622_*623insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*622_*623insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556644.5:n.278_279insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*472_*473insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*472_*473insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556898.5:c.*391_*392insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*391_*392insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556958.5:c.*353_*354insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*353_*354insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.5:c.*89_*90insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*89_*90insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.5:c.357_358insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.1:p.Gln119_Gln120insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.894_895insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000478320.1:p.Gln298_Gln299insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*52_*53insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*52_*53insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000620536.4:c.921_922insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000484016.1:p.Gln307_Gln308insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.849_850insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln283_Gln284insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.741_742insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln247_Gln248insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.211_212insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Thr70_Ala71insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.256_257insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Thr85_Ala86insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.91_92insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Thr30_Ala31insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.409_410insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Thr136_Ala137insGluAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.531_532insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln177_Gln178insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.357_358insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln119_Gln120insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.684_685insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln228_Gln229insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.46_47insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Thr15_Ala16insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.894_895insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_004984.2:p.Gln298_Gln299insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.729_730insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln243_Gln244insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.877_878insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.712_713insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.931_932insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.766_767insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1022_1023insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.866_867insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1017_1018insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.392_393insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.875_876insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.854_855insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.566_567insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.864_865insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.886_887insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.512_513insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.878_879insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.710_711insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.724_725insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.182_183insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.379_380insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.849_850insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln283_Gln284insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.211_212insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Thr70_Ala71insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.256_257insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Thr85_Ala86insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.91_92insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Thr30_Ala31insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.409_410insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Thr136_Ala137insGluAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.531_532insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln177_Gln178insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.357_358insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln119_Gln120insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.46_47insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Thr15_Ala16insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.894_895insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select NP_004984.2:p.Gln298_Gln299insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.729_730insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln243_Gln244insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.838_839insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.673_674insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.892_893insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.727_728insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.983_984insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.827_828insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.978_979insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.353_354insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.836_837insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.815_816insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.527_528insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.825_826insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.847_848insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.473_474insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.839_840insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.671_672insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.685_686insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.143_144insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.340_341insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.741_742insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln247_Gln248insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.684_685insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln228_Gln229insLysGlnGlnGlnGlnGlnGlnGlnGlnG...