Canonical Allele Identifier: CA2575606149

Gene: ATXN3

Linked Data

• gnomAD v4: 14-92071009-C-CCCTGCTGCTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071010_92071021dup , CM000676.2:g.92071010_92071021dup	GRCh38
NC_000014.8:g.92537354_92537365dup , CM000676.1:g.92537354_92537365dup	GRCh37
NC_000014.7:g.91607107_91607118dup	NCBI36
NG_008198.2:g.40601_40612dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*579_*590dup	ENSP00000352324.5:n.*579_*590dup
ENST00000557030.6:c.*100_*111dup	ENSP00000452139.1:n.*100_*111dup
ENST00000557311.6:c.368_379dup	ENSP00000450642.2:p.Gln126_Gly127insGluGlnGlnGln
ENST00000644486.2:c.905_916dup MANE Select	ENSP00000496695.1:p.Gln305_Gly306insGluGlnGlnGln
ENST00000647161.1:c.905_916dup	ENSP00000493680.1:p.Gln305_Gly306insGluGlnGlnGln
ENST00000340660.10:c.740_751dup	ENSP00000339110.6:p.Gln250_Gly251insGluGlnGlnGln
ENST00000359366.9:c.*579_*590dup	ENSP00000352324.5:n.*579_*590dup
ENST00000393287.9:c.752_763dup	ENSP00000376965.6:p.Gln254_Gly255insGluGlnGlnGln
ENST00000429774.6:c.695_706dup	ENSP00000389376.3:p.Gln235_Gly236insGluGlnGlnGln
ENST00000502250.5:c.368_379dup	ENSP00000425322.1:p.Gln126_Gly127insGluGlnGlnGln
ENST00000503767.5:c.860_871dup	ENSP00000426697.1:p.Gln290_Gly291insGluGlnGlnGln
ENST00000526245.1:n.117-12234_117-12223dup
ENST00000532032.5:c.905_916dup	ENSP00000437157.1:p.Gln305_Gly306insGluGlnGlnGln
ENST00000545170.5:c.932_943dup	ENSP00000445618.2:p.Gln314_Gly315insGluGlnGlnGln
ENST00000553287.5:n.643_654dup
ENST00000553309.5:n.939_950dup
ENST00000553488.5:c.*720_*731dup	ENSP00000452461.1:n.*720_*731dup
ENST00000553491.5:c.752_763dup	ENSP00000451996.1:p.Gln254_Gly255insGluGlnGlnGln
ENST00000553498.5:n.828_839dup
ENST00000553570.5:c.*364_*375dup	ENSP00000451405.1:n.*364_*375dup
ENST00000553686.5:n.786_797dup
ENST00000554040.5:n.509_520dup
ENST00000554214.5:n.688_699dup
ENST00000554350.5:c.*505_*516dup	ENSP00000451103.1:n.*505_*516dup
ENST00000554491.5:n.981_992dup
ENST00000554592.5:c.902_913dup	ENSP00000451385.1:p.Gln304_Gly305insGluGlnGlnGln
ENST00000554672.5:c.611_622dup	ENSP00000451417.1:p.Gln207_Gly208insGluGlnGlnGln
ENST00000554994.5:c.*364_*375dup	ENSP00000451771.1:n.*364_*375dup
ENST00000555381.5:c.695_706dup	ENSP00000451001.1:p.Gln235_Gly236insGluGlnGlnGln
ENST00000555816.5:c.*412_*423dup	ENSP00000451910.1:n.*412_*423dup
ENST00000555958.5:n.774_785dup
ENST00000556082.5:c.*315_*326dup	ENSP00000450492.1:n.*315_*326dup
ENST00000556220.5:c.587_598dup	ENSP00000450641.1:p.Gln199_Gly200insGluGlnGlnGln
ENST00000556274.5:c.*568_*579dup	ENSP00000451733.1:n.*568_*579dup
ENST00000556288.5:c.*556_*567dup	ENSP00000450566.1:n.*556_*567dup
ENST00000556315.5:c.*579_*590dup	ENSP00000451132.1:n.*579_*590dup
ENST00000556339.5:n.442_453dup
ENST00000556374.5:c.*633_*644dup	ENSP00000451399.1:n.*633_*644dup
ENST00000556644.5:n.289_300dup
ENST00000556671.5:c.*483_*494dup	ENSP00000451693.1:n.*483_*494dup
ENST00000556898.5:c.*402_*413dup	ENSP00000451769.1:n.*402_*413dup
ENST00000556958.5:c.*364_*375dup	ENSP00000452532.1:n.*364_*375dup
ENST00000557030.5:c.*100_*111dup	ENSP00000452139.1:n.*100_*111dup
ENST00000557311.5:c.368_379dup	ENSP00000450642.1:p.Gln126_Gly127insGluGlnGlnGln
ENST00000558190.5:c.905_916dup	ENSP00000478320.1:p.Gln305_Gly306insGluGlnGlnGln
ENST00000617719.4:c.*63_*74dup	ENSP00000481998.1:n.*63_*74dup
ENST00000620536.4:c.932_943dup	ENSP00000484016.1:p.Gln314_Gly315insGluGlnGlnGln
ENST00000624063.1:c.31_42dup	ENSP00000485197.1:p.Ala14_Ala15insProAlaAlaAla
NM_001127696.1:c.860_871dup	NP_001121168.1:p.Gln290_Gly291insGluGlnGlnGln
NM_001127697.2:c.752_763dup	NP_001121169.2:p.Gln254_Gly255insGluGlnGlnGln
NM_001164774.1:c.222_233dup	NP_001158246.1:p.Gly78_Gly79insAlaAlaAlaGly
NM_001164776.1:c.267_278dup	NP_001158248.1:p.Gly93_Gly94insAlaAlaAlaGly
NM_001164777.1:c.102_113dup	NP_001158249.1:p.Gly38_Gly39insAlaAlaAlaGly
NM_001164778.1:c.420_431dup	NP_001158250.1:p.Gly144_Gly145insAlaAlaAlaGly
NM_001164779.1:c.542_553dup	NP_001158251.1:p.Gln184_Gly185insGluGlnGlnGln
NM_001164780.1:c.368_379dup	NP_001158252.1:p.Gln126_Gly127insGluGlnGlnGln
NM_001164781.1:c.695_706dup	NP_001158253.1:p.Gln235_Gly236insGluGlnGlnGln
NM_001164782.1:c.57_68dup	NP_001158254.1:p.Gly23_Gly24insAlaAlaAlaGly
NM_004993.5:c.905_916dup	NP_004984.2:p.Gln305_Gly306insGluGlnGlnGln
NM_030660.4:c.740_751dup	NP_109376.1:p.Gln250_Gly251insGluGlnGlnGln
NR_028453.1:n.888_899dup
NR_028454.1:n.723_734dup
NR_028455.1:n.942_953dup
NR_028456.1:n.777_788dup
NR_028457.1:n.1033_1044dup
NR_028458.1:n.877_888dup
NR_028459.1:n.1028_1039dup
NR_028460.1:n.403_414dup
NR_028461.1:n.886_897dup
NR_028462.1:n.865_876dup
NR_028463.1:n.577_588dup
NR_028464.1:n.875_886dup
NR_028465.1:n.897_908dup
NR_028466.1:n.523_534dup
NR_028467.1:n.889_900dup
NR_028468.1:n.721_732dup
NR_028469.1:n.735_746dup
NR_028470.1:n.193_204dup
NR_031765.1:n.390_401dup
NM_001127696.2:c.860_871dup	NP_001121168.1:p.Gln290_Gly291insGluGlnGlnGln
NM_001164774.2:c.222_233dup	NP_001158246.1:p.Gly78_Gly79insAlaAlaAlaGly
NM_001164776.2:c.267_278dup	NP_001158248.1:p.Gly93_Gly94insAlaAlaAlaGly
NM_001164777.2:c.102_113dup	NP_001158249.1:p.Gly38_Gly39insAlaAlaAlaGly
NM_001164778.2:c.420_431dup	NP_001158250.1:p.Gly144_Gly145insAlaAlaAlaGly
NM_001164779.2:c.542_553dup	NP_001158251.1:p.Gln184_Gly185insGluGlnGlnGln
NM_001164780.2:c.368_379dup	NP_001158252.1:p.Gln126_Gly127insGluGlnGlnGln
NM_001164782.2:c.57_68dup	NP_001158254.1:p.Gly23_Gly24insAlaAlaAlaGly
NM_004993.6:c.905_916dup MANE Select	NP_004984.2:p.Gln305_Gly306insGluGlnGlnGln
NM_030660.5:c.740_751dup	NP_109376.1:p.Gln250_Gly251insGluGlnGlnGln
NR_028453.2:n.849_860dup
NR_028454.2:n.684_695dup
NR_028455.2:n.903_914dup
NR_028456.2:n.738_749dup
NR_028457.2:n.994_1005dup
NR_028458.2:n.838_849dup
NR_028459.2:n.989_1000dup
NR_028460.2:n.364_375dup
NR_028461.2:n.847_858dup
NR_028462.2:n.826_837dup
NR_028463.2:n.538_549dup
NR_028464.2:n.836_847dup
NR_028465.2:n.858_869dup
NR_028466.2:n.484_495dup
NR_028467.2:n.850_861dup
NR_028468.2:n.682_693dup
NR_028469.2:n.696_707dup
NR_028470.2:n.154_165dup
NR_031765.2:n.351_362dup
NM_001127697.3:c.752_763dup	NP_001121169.2:p.Gln254_Gly255insGluGlnGlnGln
NM_001164781.2:c.695_706dup	NP_001158253.1:p.Gln235_Gly236insGluGlnGlnGln