Canonical Allele Identifier: CA2575606150

Gene: ATXN3

Linked Data

• gnomAD v4: 14-92071009-C-CCCTGCTGCTGCTGCTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071010_92071027dup , CM000676.2:g.92071010_92071027dup	GRCh38
NC_000014.8:g.92537354_92537371dup , CM000676.1:g.92537354_92537371dup	GRCh37
NC_000014.7:g.91607107_91607124dup	NCBI36
NG_008198.2:g.40595_40612dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*573_*590dup	ENSP00000352324.5:n.*573_*590dup
ENST00000557030.6:c.*94_*111dup	ENSP00000452139.1:n.*94_*111dup
ENST00000557311.6:c.362_379dup	ENSP00000450642.2:p.Gln126_Gly127insGluGlnGlnGlnGlnGln
ENST00000644486.2:c.899_916dup MANE Select	ENSP00000496695.1:p.Gln305_Gly306insGluGlnGlnGlnGlnGln
ENST00000647161.1:c.899_916dup	ENSP00000493680.1:p.Gln305_Gly306insGluGlnGlnGlnGlnGln
ENST00000340660.10:c.734_751dup	ENSP00000339110.6:p.Gln250_Gly251insGluGlnGlnGlnGlnGln
ENST00000359366.9:c.*573_*590dup	ENSP00000352324.5:n.*573_*590dup
ENST00000393287.9:c.746_763dup	ENSP00000376965.6:p.Gln254_Gly255insGluGlnGlnGlnGlnGln
ENST00000429774.6:c.689_706dup	ENSP00000389376.3:p.Gln235_Gly236insGluGlnGlnGlnGlnGln
ENST00000502250.5:c.362_379dup	ENSP00000425322.1:p.Gln126_Gly127insGluGlnGlnGlnGlnGln
ENST00000503767.5:c.854_871dup	ENSP00000426697.1:p.Gln290_Gly291insGluGlnGlnGlnGlnGln
ENST00000526245.1:n.117-12240_117-12223dup
ENST00000532032.5:c.899_916dup	ENSP00000437157.1:p.Gln305_Gly306insGluGlnGlnGlnGlnGln
ENST00000545170.5:c.926_943dup	ENSP00000445618.2:p.Gln314_Gly315insGluGlnGlnGlnGlnGln
ENST00000553287.5:n.637_654dup
ENST00000553309.5:n.933_950dup
ENST00000553488.5:c.*714_*731dup	ENSP00000452461.1:n.*714_*731dup
ENST00000553491.5:c.746_763dup	ENSP00000451996.1:p.Gln254_Gly255insGluGlnGlnGlnGlnGln
ENST00000553498.5:n.822_839dup
ENST00000553570.5:c.*358_*375dup	ENSP00000451405.1:n.*358_*375dup
ENST00000553686.5:n.780_797dup
ENST00000554040.5:n.503_520dup
ENST00000554214.5:n.682_699dup
ENST00000554350.5:c.*499_*516dup	ENSP00000451103.1:n.*499_*516dup
ENST00000554491.5:n.975_992dup
ENST00000554592.5:c.896_913dup	ENSP00000451385.1:p.Gln304_Gly305insGluGlnGlnGlnGlnGln
ENST00000554672.5:c.605_622dup	ENSP00000451417.1:p.Gln207_Gly208insGluGlnGlnGlnGlnGln
ENST00000554994.5:c.*358_*375dup	ENSP00000451771.1:n.*358_*375dup
ENST00000555381.5:c.689_706dup	ENSP00000451001.1:p.Gln235_Gly236insGluGlnGlnGlnGlnGln
ENST00000555816.5:c.*406_*423dup	ENSP00000451910.1:n.*406_*423dup
ENST00000555958.5:n.768_785dup
ENST00000556082.5:c.*309_*326dup	ENSP00000450492.1:n.*309_*326dup
ENST00000556220.5:c.581_598dup	ENSP00000450641.1:p.Gln199_Gly200insGluGlnGlnGlnGlnGln
ENST00000556274.5:c.*562_*579dup	ENSP00000451733.1:n.*562_*579dup
ENST00000556288.5:c.*550_*567dup	ENSP00000450566.1:n.*550_*567dup
ENST00000556315.5:c.*573_*590dup	ENSP00000451132.1:n.*573_*590dup
ENST00000556339.5:n.436_453dup
ENST00000556374.5:c.*627_*644dup	ENSP00000451399.1:n.*627_*644dup
ENST00000556644.5:n.283_300dup
ENST00000556671.5:c.*477_*494dup	ENSP00000451693.1:n.*477_*494dup
ENST00000556898.5:c.*396_*413dup	ENSP00000451769.1:n.*396_*413dup
ENST00000556958.5:c.*358_*375dup	ENSP00000452532.1:n.*358_*375dup
ENST00000557030.5:c.*94_*111dup	ENSP00000452139.1:n.*94_*111dup
ENST00000557311.5:c.362_379dup	ENSP00000450642.1:p.Gln126_Gly127insGluGlnGlnGlnGlnGln
ENST00000558190.5:c.899_916dup	ENSP00000478320.1:p.Gln305_Gly306insGluGlnGlnGlnGlnGln
ENST00000617719.4:c.*57_*74dup	ENSP00000481998.1:n.*57_*74dup
ENST00000620536.4:c.926_943dup	ENSP00000484016.1:p.Gln314_Gly315insGluGlnGlnGlnGlnGln
ENST00000624063.1:c.31_48dup	ENSP00000485197.1:p.Ala16_Ala17insProAlaAlaAlaAlaAla
NM_001127696.1:c.854_871dup	NP_001121168.1:p.Gln290_Gly291insGluGlnGlnGlnGlnGln
NM_001127697.2:c.746_763dup	NP_001121169.2:p.Gln254_Gly255insGluGlnGlnGlnGlnGln
NM_001164774.1:c.216_233dup	NP_001158246.1:p.Gly78_Gly79insAlaAlaAlaAlaAlaGly
NM_001164776.1:c.261_278dup	NP_001158248.1:p.Gly93_Gly94insAlaAlaAlaAlaAlaGly
NM_001164777.1:c.96_113dup	NP_001158249.1:p.Gly38_Gly39insAlaAlaAlaAlaAlaGly
NM_001164778.1:c.414_431dup	NP_001158250.1:p.Gly144_Gly145insAlaAlaAlaAlaAlaGly
NM_001164779.1:c.536_553dup	NP_001158251.1:p.Gln184_Gly185insGluGlnGlnGlnGlnGln
NM_001164780.1:c.362_379dup	NP_001158252.1:p.Gln126_Gly127insGluGlnGlnGlnGlnGln
NM_001164781.1:c.689_706dup	NP_001158253.1:p.Gln235_Gly236insGluGlnGlnGlnGlnGln
NM_001164782.1:c.51_68dup	NP_001158254.1:p.Gly23_Gly24insAlaAlaAlaAlaAlaGly
NM_004993.5:c.899_916dup	NP_004984.2:p.Gln305_Gly306insGluGlnGlnGlnGlnGln
NM_030660.4:c.734_751dup	NP_109376.1:p.Gln250_Gly251insGluGlnGlnGlnGlnGln
NR_028453.1:n.882_899dup
NR_028454.1:n.717_734dup
NR_028455.1:n.936_953dup
NR_028456.1:n.771_788dup
NR_028457.1:n.1027_1044dup
NR_028458.1:n.871_888dup
NR_028459.1:n.1022_1039dup
NR_028460.1:n.397_414dup
NR_028461.1:n.880_897dup
NR_028462.1:n.859_876dup
NR_028463.1:n.571_588dup
NR_028464.1:n.869_886dup
NR_028465.1:n.891_908dup
NR_028466.1:n.517_534dup
NR_028467.1:n.883_900dup
NR_028468.1:n.715_732dup
NR_028469.1:n.729_746dup
NR_028470.1:n.187_204dup
NR_031765.1:n.384_401dup
NM_001127696.2:c.854_871dup	NP_001121168.1:p.Gln290_Gly291insGluGlnGlnGlnGlnGln
NM_001164774.2:c.216_233dup	NP_001158246.1:p.Gly78_Gly79insAlaAlaAlaAlaAlaGly
NM_001164776.2:c.261_278dup	NP_001158248.1:p.Gly93_Gly94insAlaAlaAlaAlaAlaGly
NM_001164777.2:c.96_113dup	NP_001158249.1:p.Gly38_Gly39insAlaAlaAlaAlaAlaGly
NM_001164778.2:c.414_431dup	NP_001158250.1:p.Gly144_Gly145insAlaAlaAlaAlaAlaGly
NM_001164779.2:c.536_553dup	NP_001158251.1:p.Gln184_Gly185insGluGlnGlnGlnGlnGln
NM_001164780.2:c.362_379dup	NP_001158252.1:p.Gln126_Gly127insGluGlnGlnGlnGlnGln
NM_001164782.2:c.51_68dup	NP_001158254.1:p.Gly23_Gly24insAlaAlaAlaAlaAlaGly
NM_004993.6:c.899_916dup MANE Select	NP_004984.2:p.Gln305_Gly306insGluGlnGlnGlnGlnGln
NM_030660.5:c.734_751dup	NP_109376.1:p.Gln250_Gly251insGluGlnGlnGlnGlnGln
NR_028453.2:n.843_860dup
NR_028454.2:n.678_695dup
NR_028455.2:n.897_914dup
NR_028456.2:n.732_749dup
NR_028457.2:n.988_1005dup
NR_028458.2:n.832_849dup
NR_028459.2:n.983_1000dup
NR_028460.2:n.358_375dup
NR_028461.2:n.841_858dup
NR_028462.2:n.820_837dup
NR_028463.2:n.532_549dup
NR_028464.2:n.830_847dup
NR_028465.2:n.852_869dup
NR_028466.2:n.478_495dup
NR_028467.2:n.844_861dup
NR_028468.2:n.676_693dup
NR_028469.2:n.690_707dup
NR_028470.2:n.148_165dup
NR_031765.2:n.345_362dup
NM_001127697.3:c.746_763dup	NP_001121169.2:p.Gln254_Gly255insGluGlnGlnGlnGlnGln
NM_001164781.2:c.689_706dup	NP_001158253.1:p.Gln235_Gly236insGluGlnGlnGlnGlnGln