Canonical Allele Identifier: CA645582568

Gene: ATXN3

Linked Data

• COSMIC: COSM4603002 ; COSM4603003 ; COSM4603004

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.2:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTGC	GRCh38
NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGC , CM000676.1:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGC	GRCh37
NC_000014.7:g.91607107_91607108insTGCTGCTGCTGCTGCTGCTGCTGC	NCBI36
NG_008198.2:g.40612_40613insCAGCAGCAGCAGCAGCAGCAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000352324.5:n.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000557030.6:c.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000452139.1:n.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000557311.6:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450642.2:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000644486.2:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAG MANE Select	ENSP00000496695.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000647161.1:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000493680.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000340660.10:c.751_752insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000339110.6:p.Gln250_Gly251insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000359366.9:c.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000352324.5:n.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000393287.9:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000376965.6:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000429774.6:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000389376.3:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000502250.5:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000425322.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000503767.5:c.871_872insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000426697.1:p.Gln290_Gly291insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000526245.1:n.117-12223_117-12222insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000532032.5:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000437157.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000545170.5:c.943_944insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000445618.2:p.Gln314_Gly315insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000553287.5:n.654_655insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553309.5:n.950_951insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553488.5:c.*731_*732insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000452461.1:n.*731_*732insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553491.5:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451996.1:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000553498.5:n.839_840insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553570.5:c.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451405.1:n.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000553686.5:n.797_798insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554040.5:n.520_521insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554214.5:n.699_700insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554350.5:c.*516_*517insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451103.1:n.*516_*517insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554491.5:n.992_993insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000554592.5:c.913_914insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451385.1:p.Gln304_Gly305insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000554672.5:c.622_623insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451417.1:p.Gln207_Gly208insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000554994.5:c.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451771.1:n.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000555381.5:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451001.1:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000555816.5:c.*423_*424insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451910.1:n.*423_*424insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000555958.5:n.785_786insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556082.5:c.*326_*327insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450492.1:n.*326_*327insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556220.5:c.598_599insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450641.1:p.Gln199_Gly200insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000556274.5:c.*579_*580insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451733.1:n.*579_*580insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556288.5:c.*567_*568insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450566.1:n.*567_*568insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556315.5:c.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451132.1:n.*590_*591insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556339.5:n.453_454insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556374.5:c.*644_*645insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451399.1:n.*644_*645insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556644.5:n.300_301insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556671.5:c.*494_*495insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451693.1:n.*494_*495insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556898.5:c.*413_*414insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000451769.1:n.*413_*414insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000556958.5:c.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000452532.1:n.*375_*376insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000557030.5:c.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000452139.1:n.*111_*112insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000557311.5:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000450642.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000558190.5:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000478320.1:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000617719.4:c.*74_*75insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000481998.1:n.*74_*75insCAGCAGCAGCAGCAGCAGCAGCAG
ENST00000620536.4:c.943_944insCAGCAGCAGCAGCAGCAGCAGCAG	ENSP00000484016.1:p.Gln314_Gly315insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000624063.1:c.31_32insTGCTGCTGCTGCTGCTGCTGCTGC	ENSP00000485197.1:p.Pro10_Pro11insLeuLeuLeuLeuLeuLeuLeuLeu
NM_001127696.1:c.871_872insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001121168.1:p.Gln290_Gly291insAlaAlaAlaAlaAlaAlaAlaAla
NM_001127697.2:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001121169.2:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAla
NM_001164774.1:c.233_234insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158246.1:p.Gly78_Gly79insSerSerSerSerSerSerSerArg
NM_001164776.1:c.278_279insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158248.1:p.Gly93_Gly94insSerSerSerSerSerSerSerArg
NM_001164777.1:c.113_114insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158249.1:p.Gly38_Gly39insSerSerSerSerSerSerSerArg
NM_001164778.1:c.431_432insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158250.1:p.Gly144_Gly145insSerSerSerSerSerSerSerArg
NM_001164779.1:c.553_554insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158251.1:p.Gln184_Gly185insAlaAlaAlaAlaAlaAlaAlaAla
NM_001164780.1:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158252.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAla
NM_001164781.1:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158253.1:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAla
NM_001164782.1:c.68_69insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158254.1:p.Gly23_Gly24insSerSerSerSerSerSerSerArg
NM_004993.5:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAG	NP_004984.2:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAla
NM_030660.4:c.751_752insCAGCAGCAGCAGCAGCAGCAGCAG	NP_109376.1:p.Gln250_Gly251insAlaAlaAlaAlaAlaAlaAlaAla
NR_028453.1:n.899_900insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.1:n.734_735insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.1:n.953_954insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.1:n.788_789insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.1:n.1044_1045insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.1:n.888_889insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.1:n.1039_1040insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.1:n.414_415insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.1:n.897_898insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.1:n.876_877insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.1:n.588_589insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.1:n.886_887insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.1:n.908_909insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.1:n.534_535insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.1:n.900_901insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.1:n.732_733insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.1:n.746_747insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.1:n.204_205insCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.1:n.401_402insCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127696.2:c.871_872insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001121168.1:p.Gln290_Gly291insAlaAlaAlaAlaAlaAlaAlaAla
NM_001164774.2:c.233_234insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158246.1:p.Gly78_Gly79insSerSerSerSerSerSerSerArg
NM_001164776.2:c.278_279insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158248.1:p.Gly93_Gly94insSerSerSerSerSerSerSerArg
NM_001164777.2:c.113_114insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158249.1:p.Gly38_Gly39insSerSerSerSerSerSerSerArg
NM_001164778.2:c.431_432insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158250.1:p.Gly144_Gly145insSerSerSerSerSerSerSerArg
NM_001164779.2:c.553_554insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158251.1:p.Gln184_Gly185insAlaAlaAlaAlaAlaAlaAlaAla
NM_001164780.2:c.379_380insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158252.1:p.Gln126_Gly127insAlaAlaAlaAlaAlaAlaAlaAla
NM_001164782.2:c.68_69insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158254.1:p.Gly23_Gly24insSerSerSerSerSerSerSerArg
NM_004993.6:c.916_917insCAGCAGCAGCAGCAGCAGCAGCAG MANE Select	NP_004984.2:p.Gln305_Gly306insAlaAlaAlaAlaAlaAlaAlaAla
NM_030660.5:c.751_752insCAGCAGCAGCAGCAGCAGCAGCAG	NP_109376.1:p.Gln250_Gly251insAlaAlaAlaAlaAlaAlaAlaAla
NR_028453.2:n.860_861insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028454.2:n.695_696insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028455.2:n.914_915insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028456.2:n.749_750insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028457.2:n.1005_1006insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028458.2:n.849_850insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028459.2:n.1000_1001insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028460.2:n.375_376insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028461.2:n.858_859insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028462.2:n.837_838insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028463.2:n.549_550insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028464.2:n.847_848insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028465.2:n.869_870insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028466.2:n.495_496insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028467.2:n.861_862insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028468.2:n.693_694insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028469.2:n.707_708insCAGCAGCAGCAGCAGCAGCAGCAG
NR_028470.2:n.165_166insCAGCAGCAGCAGCAGCAGCAGCAG
NR_031765.2:n.362_363insCAGCAGCAGCAGCAGCAGCAGCAG
NM_001127697.3:c.763_764insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001121169.2:p.Gln254_Gly255insAlaAlaAlaAlaAlaAlaAlaAla
NM_001164781.2:c.706_707insCAGCAGCAGCAGCAGCAGCAGCAG	NP_001158253.1:p.Gln235_Gly236insAlaAlaAlaAlaAlaAlaAlaAla