Canonical Allele Identifier: CA616113119
Gene: ATXN3 HGNC NCBI

Linked Data

dbSNP Id: rs1566922091

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTGCTG , CM000676.2:g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTGCTG GRCh38
NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTGCTG , CM000676.1:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTGCTG GRCh37
NC_000014.7:g.91607131_91607132insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTGCTG NCBI36
NG_008198.2:g.40596_40597insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359366.10:c.*574_*575insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*574_*575insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554672.6:c.363_364insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.2:p.Gln121_Gln122insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556082.6:c.*310_*311insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*310_*311insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.6:c.*574_*575insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*574_*575insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.6:c.*95_*96insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*95_*96insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.6:c.363_364insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.2:p.Gln121_Gln122insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000644486.2:c.900_901insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select ENSP00000496695.1:p.Gln300_Gln301insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000646485.1:c.*95_*96insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000496590.1:n.*95_*96insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000647161.1:c.900_901insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000493680.1:p.Gln300_Gln301insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000340660.10:c.735_736insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000339110.6:p.Gln245_Gln246insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000359366.9:c.*574_*575insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000352324.5:n.*574_*575insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000393287.9:c.747_748insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000376965.6:p.Gln249_Gln250insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000429774.6:c.690_691insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000389376.3:p.Gln230_Gln231insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000502250.5:c.363_364insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000425322.1:p.Gln121_Gln122insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000503767.5:c.855_856insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000426697.1:p.Gln285_Gln286insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000526245.1:n.117-12239_117-12238insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.900_901insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000437157.1:p.Gln300_Gln301insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000545170.5:c.927_928insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000445618.2:p.Gln309_Gln310insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553287.5:n.638_639insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.934_935insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*715_*716insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452461.1:n.*715_*716insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553491.5:c.747_748insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451996.1:p.Gln249_Gln250insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000553498.5:n.823_824insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*359_*360insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451405.1:n.*359_*360insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000553686.5:n.781_782insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.504_505insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.683_684insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*500_*501insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451103.1:n.*500_*501insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000554491.5:n.976_977insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.897_898insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451385.1:p.Gln299_Gln300insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554672.5:c.606_607insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451417.1:p.Gln202_Gln203insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000554994.5:c.*359_*360insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451771.1:n.*359_*360insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555381.5:c.690_691insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451001.1:p.Gln230_Gln231insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000555816.5:c.*407_*408insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451910.1:n.*407_*408insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000555958.5:n.769_770insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*310_*311insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450492.1:n.*310_*311insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556220.5:c.582_583insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450641.1:p.Gln194_Gln195insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000556274.5:c.*563_*564insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451733.1:n.*563_*564insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556288.5:c.*551_*552insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450566.1:n.*551_*552insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556315.5:c.*574_*575insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451132.1:n.*574_*575insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556339.5:n.437_438insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*628_*629insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451399.1:n.*628_*629insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556644.5:n.284_285insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*478_*479insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451693.1:n.*478_*479insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556898.5:c.*397_*398insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000451769.1:n.*397_*398insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000556958.5:c.*359_*360insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452532.1:n.*359_*360insAAGCAGCAGCAGCAGCAGCAGCAGCAGCA...
ENST00000557030.5:c.*95_*96insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000452139.1:n.*95_*96insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000557311.5:c.363_364insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000450642.1:p.Gln121_Gln122insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000558190.5:c.900_901insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000478320.1:p.Gln300_Gln301insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000617719.4:c.*58_*59insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000481998.1:n.*58_*59insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000620536.4:c.927_928insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ENSP00000484016.1:p.Gln309_Gln310insLysGlnGlnGlnGlnGlnGlnGlnG...
ENST00000624063.1:c.55_56insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTCTGCTGCTG ENSP00000485197.1:p.Ala18_Val19insAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001127696.1:c.855_856insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln285_Gln286insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001127697.2:c.747_748insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln249_Gln250insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.1:c.217_218insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala72_Ala73insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.1:c.262_263insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala87_Ala88insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.1:c.97_98insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala32_Ala33insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.1:c.415_416insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala138_Ala139insGluAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.1:c.537_538insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln179_Gln180insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.1:c.363_364insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln121_Gln122insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.1:c.690_691insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln230_Gln231insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.1:c.52_53insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala17_Ala18insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.5:c.900_901insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_004984.2:p.Gln300_Gln301insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.4:c.735_736insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln245_Gln246insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.1:n.883_884insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.718_719insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.937_938insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.772_773insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1028_1029insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.872_873insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1023_1024insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.398_399insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.881_882insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.860_861insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.572_573insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.870_871insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.892_893insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.518_519insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.884_885insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.716_717insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.730_731insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.188_189insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.385_386insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.855_856insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121168.1:p.Gln285_Gln286insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164774.2:c.217_218insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158246.1:p.Ala72_Ala73insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164776.2:c.262_263insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158248.1:p.Ala87_Ala88insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164777.2:c.97_98insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158249.1:p.Ala32_Ala33insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_001164778.2:c.415_416insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158250.1:p.Ala138_Ala139insGluAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_001164779.2:c.537_538insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158251.1:p.Gln179_Gln180insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164780.2:c.363_364insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158252.1:p.Gln121_Gln122insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164782.2:c.52_53insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158254.1:p.Ala17_Ala18insGluAlaAlaAlaAlaAlaAlaAlaAlaAla...
NM_004993.6:c.900_901insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG MANE Select NP_004984.2:p.Gln300_Gln301insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_030660.5:c.735_736insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_109376.1:p.Gln245_Gln246insLysGlnGlnGlnGlnGlnGlnGlnGlnGlnG...
NR_028453.2:n.844_845insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.679_680insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.898_899insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.733_734insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.989_990insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.833_834insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.984_985insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.359_360insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.842_843insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.821_822insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.533_534insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.831_832insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.853_854insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.479_480insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.845_846insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.677_678insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.691_692insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.149_150insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.346_347insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.747_748insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001121169.2:p.Gln249_Gln250insLysGlnGlnGlnGlnGlnGlnGlnGlnG...
NM_001164781.2:c.690_691insAAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG NP_001158253.1:p.Gln230_Gln231insLysGlnGlnGlnGlnGlnGlnGlnGlnG...