Canonical Allele Identifier: CA2499222785
Gene: ATXN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1217546
ClinVar RCV Id: RCV001588219
dbSNP Id: rs763541221

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071010delinsGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071010delinsGCTGCTGCTGCTGCTGCTG GRCh38
NC_000014.8:g.92537354delinsGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537354delinsGCTGCTGCTGCTGCTGCTG GRCh37
NC_000014.7:g.91607107delinsGCTGCTGCTGCTGCTGCTG NCBI36
NG_008198.2:g.40612delinsCAGCAGCAGCAGCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*590delinsCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*590delinsCAGCAGCAGCAGCAGCAGC
ENST00000557030.6:c.*111delinsCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*111delinsCAGCAGCAGCAGCAGCAGC
ENST00000557311.6:c.379delinsCAGCAGCAGCAGCAGCAGC ENSP00000450642.2:p.Gly127delinsGlnGlnGlnGlnGlnGlnArg
ENST00000644486.2:c.916delinsCAGCAGCAGCAGCAGCAGC MANE Select ENSP00000496695.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg
ENST00000647161.1:c.916delinsCAGCAGCAGCAGCAGCAGC ENSP00000493680.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg
ENST00000340660.10:c.751delinsCAGCAGCAGCAGCAGCAGC ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnArg
ENST00000359366.9:c.*590delinsCAGCAGCAGCAGCAGCAGC ENSP00000352324.5:n.*590delinsCAGCAGCAGCAGCAGCAGC
ENST00000393287.9:c.763delinsCAGCAGCAGCAGCAGCAGC ENSP00000376965.6:p.Gly255delinsGlnGlnGlnGlnGlnGlnArg
ENST00000429774.6:c.706delinsCAGCAGCAGCAGCAGCAGC ENSP00000389376.3:p.Gly236delinsGlnGlnGlnGlnGlnGlnArg
ENST00000502250.5:c.379delinsCAGCAGCAGCAGCAGCAGC ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnArg
ENST00000503767.5:c.871delinsCAGCAGCAGCAGCAGCAGC ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnArg
ENST00000526245.1:n.117-12223delinsCAGCAGCAGCAGCAGCAGC
ENST00000532032.5:c.916delinsCAGCAGCAGCAGCAGCAGC ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg
ENST00000545170.5:c.943delinsCAGCAGCAGCAGCAGCAGC ENSP00000445618.2:p.Gly315delinsGlnGlnGlnGlnGlnGlnArg
ENST00000553287.5:n.654delinsCAGCAGCAGCAGCAGCAGC
ENST00000553309.5:n.950delinsCAGCAGCAGCAGCAGCAGC
ENST00000553488.5:c.*731delinsCAGCAGCAGCAGCAGCAGC ENSP00000452461.1:n.*731delinsCAGCAGCAGCAGCAGCAGC
ENST00000553491.5:c.763delinsCAGCAGCAGCAGCAGCAGC ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnArg
ENST00000553498.5:n.839delinsCAGCAGCAGCAGCAGCAGC
ENST00000553570.5:c.*375delinsCAGCAGCAGCAGCAGCAGC ENSP00000451405.1:n.*375delinsCAGCAGCAGCAGCAGCAGC
ENST00000553686.5:n.797delinsCAGCAGCAGCAGCAGCAGC
ENST00000554040.5:n.520delinsCAGCAGCAGCAGCAGCAGC
ENST00000554214.5:n.699delinsCAGCAGCAGCAGCAGCAGC
ENST00000554350.5:c.*516delinsCAGCAGCAGCAGCAGCAGC ENSP00000451103.1:n.*516delinsCAGCAGCAGCAGCAGCAGC
ENST00000554491.5:n.992delinsCAGCAGCAGCAGCAGCAGC
ENST00000554592.5:c.913delinsCAGCAGCAGCAGCAGCAGC ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnArg
ENST00000554672.5:c.622delinsCAGCAGCAGCAGCAGCAGC ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnArg
ENST00000554994.5:c.*375delinsCAGCAGCAGCAGCAGCAGC ENSP00000451771.1:n.*375delinsCAGCAGCAGCAGCAGCAGC
ENST00000555381.5:c.706delinsCAGCAGCAGCAGCAGCAGC ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnArg
ENST00000555816.5:c.*423delinsCAGCAGCAGCAGCAGCAGC ENSP00000451910.1:n.*423delinsCAGCAGCAGCAGCAGCAGC
ENST00000555958.5:n.785delinsCAGCAGCAGCAGCAGCAGC
ENST00000556082.5:c.*326delinsCAGCAGCAGCAGCAGCAGC ENSP00000450492.1:n.*326delinsCAGCAGCAGCAGCAGCAGC
ENST00000556220.5:c.598delinsCAGCAGCAGCAGCAGCAGC ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnArg
ENST00000556274.5:c.*579delinsCAGCAGCAGCAGCAGCAGC ENSP00000451733.1:n.*579delinsCAGCAGCAGCAGCAGCAGC
ENST00000556288.5:c.*567delinsCAGCAGCAGCAGCAGCAGC ENSP00000450566.1:n.*567delinsCAGCAGCAGCAGCAGCAGC
ENST00000556315.5:c.*590delinsCAGCAGCAGCAGCAGCAGC ENSP00000451132.1:n.*590delinsCAGCAGCAGCAGCAGCAGC
ENST00000556339.5:n.453delinsCAGCAGCAGCAGCAGCAGC
ENST00000556374.5:c.*644delinsCAGCAGCAGCAGCAGCAGC ENSP00000451399.1:n.*644delinsCAGCAGCAGCAGCAGCAGC
ENST00000556644.5:n.300delinsCAGCAGCAGCAGCAGCAGC
ENST00000556671.5:c.*494delinsCAGCAGCAGCAGCAGCAGC ENSP00000451693.1:n.*494delinsCAGCAGCAGCAGCAGCAGC
ENST00000556898.5:c.*413delinsCAGCAGCAGCAGCAGCAGC ENSP00000451769.1:n.*413delinsCAGCAGCAGCAGCAGCAGC
ENST00000556958.5:c.*375delinsCAGCAGCAGCAGCAGCAGC ENSP00000452532.1:n.*375delinsCAGCAGCAGCAGCAGCAGC
ENST00000557030.5:c.*111delinsCAGCAGCAGCAGCAGCAGC ENSP00000452139.1:n.*111delinsCAGCAGCAGCAGCAGCAGC
ENST00000557311.5:c.379delinsCAGCAGCAGCAGCAGCAGC ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnArg
ENST00000558190.5:c.916delinsCAGCAGCAGCAGCAGCAGC ENSP00000478320.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg
ENST00000617719.4:c.*74delinsCAGCAGCAGCAGCAGCAGC ENSP00000481998.1:n.*74delinsCAGCAGCAGCAGCAGCAGC
ENST00000620536.4:c.943delinsCAGCAGCAGCAGCAGCAGC ENSP00000484016.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnArg
ENST00000624063.1:c.31delinsGCTGCTGCTGCTGCTGCTG ENSP00000485197.1:p.Pro11delinsAlaAlaAlaAlaAlaAlaAla
NM_001127696.1:c.871delinsCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnArg
NM_001127697.2:c.763delinsCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gly255delinsGlnGlnGlnGlnGlnGlnArg
NM_001164774.1:c.233delinsCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Gly78delinsAlaAlaAlaAlaAlaAlaAla
NM_001164776.1:c.278delinsCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Gly93delinsAlaAlaAlaAlaAlaAlaAla
NM_001164777.1:c.113delinsCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Gly38delinsAlaAlaAlaAlaAlaAlaAla
NM_001164778.1:c.431delinsCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Gly144delinsAlaAlaAlaAlaAlaAlaAla
NM_001164779.1:c.553delinsCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gly185delinsGlnGlnGlnGlnGlnGlnArg
NM_001164780.1:c.379delinsCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnArg
NM_001164781.1:c.706delinsCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnArg
NM_001164782.1:c.68delinsCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Gly23delinsAlaAlaAlaAlaAlaAlaAla
NM_004993.5:c.916delinsCAGCAGCAGCAGCAGCAGC NP_004984.2:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg
NM_030660.4:c.751delinsCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gly251delinsGlnGlnGlnGlnGlnGlnArg
NR_028453.1:n.899delinsCAGCAGCAGCAGCAGCAGC
NR_028454.1:n.734delinsCAGCAGCAGCAGCAGCAGC
NR_028455.1:n.953delinsCAGCAGCAGCAGCAGCAGC
NR_028456.1:n.788delinsCAGCAGCAGCAGCAGCAGC
NR_028457.1:n.1044delinsCAGCAGCAGCAGCAGCAGC
NR_028458.1:n.888delinsCAGCAGCAGCAGCAGCAGC
NR_028459.1:n.1039delinsCAGCAGCAGCAGCAGCAGC
NR_028460.1:n.414delinsCAGCAGCAGCAGCAGCAGC
NR_028461.1:n.897delinsCAGCAGCAGCAGCAGCAGC
NR_028462.1:n.876delinsCAGCAGCAGCAGCAGCAGC
NR_028463.1:n.588delinsCAGCAGCAGCAGCAGCAGC
NR_028464.1:n.886delinsCAGCAGCAGCAGCAGCAGC
NR_028465.1:n.908delinsCAGCAGCAGCAGCAGCAGC
NR_028466.1:n.534delinsCAGCAGCAGCAGCAGCAGC
NR_028467.1:n.900delinsCAGCAGCAGCAGCAGCAGC
NR_028468.1:n.732delinsCAGCAGCAGCAGCAGCAGC
NR_028469.1:n.746delinsCAGCAGCAGCAGCAGCAGC
NR_028470.1:n.204delinsCAGCAGCAGCAGCAGCAGC
NR_031765.1:n.401delinsCAGCAGCAGCAGCAGCAGC
NM_001127696.2:c.871delinsCAGCAGCAGCAGCAGCAGC NP_001121168.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnArg
NM_001164774.2:c.233delinsCAGCAGCAGCAGCAGCAGC NP_001158246.1:p.Gly78delinsAlaAlaAlaAlaAlaAlaAla
NM_001164776.2:c.278delinsCAGCAGCAGCAGCAGCAGC NP_001158248.1:p.Gly93delinsAlaAlaAlaAlaAlaAlaAla
NM_001164777.2:c.113delinsCAGCAGCAGCAGCAGCAGC NP_001158249.1:p.Gly38delinsAlaAlaAlaAlaAlaAlaAla
NM_001164778.2:c.431delinsCAGCAGCAGCAGCAGCAGC NP_001158250.1:p.Gly144delinsAlaAlaAlaAlaAlaAlaAla
NM_001164779.2:c.553delinsCAGCAGCAGCAGCAGCAGC NP_001158251.1:p.Gly185delinsGlnGlnGlnGlnGlnGlnArg
NM_001164780.2:c.379delinsCAGCAGCAGCAGCAGCAGC NP_001158252.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnArg
NM_001164782.2:c.68delinsCAGCAGCAGCAGCAGCAGC NP_001158254.1:p.Gly23delinsAlaAlaAlaAlaAlaAlaAla
NM_004993.6:c.916delinsCAGCAGCAGCAGCAGCAGC MANE Select NP_004984.2:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg
NM_030660.5:c.751delinsCAGCAGCAGCAGCAGCAGC NP_109376.1:p.Gly251delinsGlnGlnGlnGlnGlnGlnArg
NR_028453.2:n.860delinsCAGCAGCAGCAGCAGCAGC
NR_028454.2:n.695delinsCAGCAGCAGCAGCAGCAGC
NR_028455.2:n.914delinsCAGCAGCAGCAGCAGCAGC
NR_028456.2:n.749delinsCAGCAGCAGCAGCAGCAGC
NR_028457.2:n.1005delinsCAGCAGCAGCAGCAGCAGC
NR_028458.2:n.849delinsCAGCAGCAGCAGCAGCAGC
NR_028459.2:n.1000delinsCAGCAGCAGCAGCAGCAGC
NR_028460.2:n.375delinsCAGCAGCAGCAGCAGCAGC
NR_028461.2:n.858delinsCAGCAGCAGCAGCAGCAGC
NR_028462.2:n.837delinsCAGCAGCAGCAGCAGCAGC
NR_028463.2:n.549delinsCAGCAGCAGCAGCAGCAGC
NR_028464.2:n.847delinsCAGCAGCAGCAGCAGCAGC
NR_028465.2:n.869delinsCAGCAGCAGCAGCAGCAGC
NR_028466.2:n.495delinsCAGCAGCAGCAGCAGCAGC
NR_028467.2:n.861delinsCAGCAGCAGCAGCAGCAGC
NR_028468.2:n.693delinsCAGCAGCAGCAGCAGCAGC
NR_028469.2:n.707delinsCAGCAGCAGCAGCAGCAGC
NR_028470.2:n.165delinsCAGCAGCAGCAGCAGCAGC
NR_031765.2:n.362delinsCAGCAGCAGCAGCAGCAGC
NM_001127697.3:c.763delinsCAGCAGCAGCAGCAGCAGC NP_001121169.2:p.Gly255delinsGlnGlnGlnGlnGlnGlnArg
NM_001164781.2:c.706delinsCAGCAGCAGCAGCAGCAGC NP_001158253.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnArg