Canonical Allele Identifier: CA645582567
Gene: ATXN3 HGNC NCBI

Linked Data

dbSNP Id: rs763541221

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.2:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh38
NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.1:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGC GRCh37
NC_000014.7:g.91607107_91607108insTGCTGCTGCTGCTGCTGCTGCTGCTGC NCBI36
NG_008198.2:g.40612_40613insCAGCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000557030.6:c.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000557311.6:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.2:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000644486.2:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select ENSP00000496695.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000647161.1:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000493680.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000340660.10:c.751_752insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000339110.6:p.Gln250_Gly251insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000359366.9:c.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000393287.9:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000376965.6:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000429774.6:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000389376.3:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000502250.5:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000425322.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000503767.5:c.871_872insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000426697.1:p.Gln290_Gly291insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000526245.1:n.117-12223_117-12222insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000437157.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000545170.5:c.943_944insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000445618.2:p.Gln314_Gly315insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000553287.5:n.654_655insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.950_951insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*731_*732insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*731_*732insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553491.5:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451996.1:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000553498.5:n.839_840insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553686.5:n.797_798insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.520_521insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.699_700insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*516_*517insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*516_*517insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554491.5:n.992_993insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.913_914insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451385.1:p.Gln304_Gly305insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000554672.5:c.622_623insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.1:p.Gln207_Gly208insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000554994.5:c.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000555381.5:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451001.1:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000555816.5:c.*423_*424insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*423_*424insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000555958.5:n.785_786insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*326_*327insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*326_*327insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556220.5:c.598_599insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450641.1:p.Gln199_Gly200insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000556274.5:c.*579_*580insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*579_*580insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556288.5:c.*567_*568insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*567_*568insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556315.5:c.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556339.5:n.453_454insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*644_*645insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*644_*645insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556644.5:n.300_301insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*494_*495insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*494_*495insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556898.5:c.*413_*414insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*413_*414insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556958.5:c.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000557030.5:c.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000557311.5:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000558190.5:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000478320.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000617719.4:c.*74_*75insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*74_*75insCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000620536.4:c.943_944insCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000484016.1:p.Gln314_Gly315insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000624063.1:c.31_32insTGCTGCTGCTGCTGCTGCTGCTGCTGC ENSP00000485197.1:p.Pro10_Pro11insLeuLeuLeuLeuLeuLeuLeuLeuLeu...
NM_001127696.1:c.871_872insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001127697.2:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164774.1:c.233_234insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Gly78_Gly79insSerSerSerSerSerSerSerSerArg
NM_001164776.1:c.278_279insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Gly93_Gly94insSerSerSerSerSerSerSerSerArg
NM_001164777.1:c.113_114insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Gly38_Gly39insSerSerSerSerSerSerSerSerArg
NM_001164778.1:c.431_432insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Gly144_Gly145insSerSerSerSerSerSerSerSerArg
NM_001164779.1:c.553_554insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164780.1:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164781.1:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164782.1:c.68_69insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Gly23_Gly24insSerSerSerSerSerSerSerSerArg
NM_004993.5:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_004984.2:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_030660.4:c.751_752insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insAlaAlaAlaAlaAlaAlaAlaAlaAla
NR_028453.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.734_735insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.953_954insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.788_789insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1044_1045insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.888_889insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1039_1040insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.414_415insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.897_898insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.876_877insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.588_589insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.886_887insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.908_909insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.534_535insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.900_901insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.732_733insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.746_747insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.204_205insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.401_402insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.871_872insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln290_Gly291insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164774.2:c.233_234insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Gly78_Gly79insSerSerSerSerSerSerSerSerArg
NM_001164776.2:c.278_279insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Gly93_Gly94insSerSerSerSerSerSerSerSerArg
NM_001164777.2:c.113_114insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Gly38_Gly39insSerSerSerSerSerSerSerSerArg
NM_001164778.2:c.431_432insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Gly144_Gly145insSerSerSerSerSerSerSerSerArg
NM_001164779.2:c.553_554insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln184_Gly185insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164780.2:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164782.2:c.68_69insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Gly23_Gly24insSerSerSerSerSerSerSerSerArg
NM_004993.6:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select NP_004984.2:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_030660.5:c.751_752insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln250_Gly251insAlaAlaAlaAlaAlaAlaAlaAlaAla
NR_028453.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.695_696insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.914_915insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.749_750insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.1005_1006insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.849_850insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.1000_1001insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.375_376insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.858_859insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.837_838insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.549_550insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.847_848insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.869_870insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.495_496insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.861_862insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.693_694insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.707_708insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.165_166insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.362_363insCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_001164781.2:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAlaAla