Canonical Allele Identifier: CA709937730

Gene: ATXN3

Linked Data

• ClinVar Variation Id: 1209890
• ClinVar RCV Id: RCV001579398
• dbSNP Id: rs1555397062
• gnomAD v3: 14-92071010-C-CTGCTGCTGCTGCTGCTGCTG
• gnomAD v4: 14-92071010-C-CTGCTGCTGCTGCTGCTGCTG
• MyVariant Identifiers: chr14:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTG (hg19) ; chr14:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTG , CM000676.2:g.92071010_92071011insTGCTGCTGCTGCTGCTGCTG	GRCh38
NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTG , CM000676.1:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTG	GRCh37
NC_000014.7:g.91607107_91607108insTGCTGCTGCTGCTGCTGCTG	NCBI36
NG_008198.2:g.40611_40612insCAGCAGCAGCAGCAGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCAGCAGCAGCAGCA	ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCA
ENST00000557030.6:c.*110_*111insCAGCAGCAGCAGCAGCAGCA	ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCA
ENST00000557311.6:c.378_379insCAGCAGCAGCAGCAGCAGCA	ENSP00000450642.2:p.Gly127GlnfsTer?
ENST00000644486.2:c.915_916insCAGCAGCAGCAGCAGCAGCA MANE Select	ENSP00000496695.1:p.Gly306GlnfsTer32
ENST00000647161.1:c.915_916insCAGCAGCAGCAGCAGCAGCA	ENSP00000493680.1:p.Gly306GlnfsTer32
ENST00000340660.10:c.750_751insCAGCAGCAGCAGCAGCAGCA	ENSP00000339110.6:p.Gly251GlnfsTer32
ENST00000359366.9:c.*589_*590insCAGCAGCAGCAGCAGCAGCA	ENSP00000352324.5:n.*589_*590insCAGCAGCAGCAGCAGCAGCA
ENST00000393287.9:c.762_763insCAGCAGCAGCAGCAGCAGCA	ENSP00000376965.6:p.Gly255GlnfsTer32
ENST00000429774.6:c.705_706insCAGCAGCAGCAGCAGCAGCA	ENSP00000389376.3:p.Gly236GlnfsTer32
ENST00000502250.5:c.378_379insCAGCAGCAGCAGCAGCAGCA	ENSP00000425322.1:p.Gly127GlnfsTer32
ENST00000503767.5:c.870_871insCAGCAGCAGCAGCAGCAGCA	ENSP00000426697.1:p.Gly291GlnfsTer32
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCAGCAGCAGCAGCA
ENST00000532032.5:c.915_916insCAGCAGCAGCAGCAGCAGCA	ENSP00000437157.1:p.Gly306GlnfsTer32
ENST00000545170.5:c.942_943insCAGCAGCAGCAGCAGCAGCA	ENSP00000445618.2:p.Gly315GlnfsTer32
ENST00000553287.5:n.653_654insCAGCAGCAGCAGCAGCAGCA
ENST00000553309.5:n.949_950insCAGCAGCAGCAGCAGCAGCA
ENST00000553488.5:c.*730_*731insCAGCAGCAGCAGCAGCAGCA	ENSP00000452461.1:n.*730_*731insCAGCAGCAGCAGCAGCAGCA
ENST00000553491.5:c.762_763insCAGCAGCAGCAGCAGCAGCA	ENSP00000451996.1:p.Gly255GlnfsTer?
ENST00000553498.5:n.838_839insCAGCAGCAGCAGCAGCAGCA
ENST00000553570.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCA	ENSP00000451405.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCA
ENST00000553686.5:n.796_797insCAGCAGCAGCAGCAGCAGCA
ENST00000554040.5:n.519_520insCAGCAGCAGCAGCAGCAGCA
ENST00000554214.5:n.698_699insCAGCAGCAGCAGCAGCAGCA
ENST00000554350.5:c.*515_*516insCAGCAGCAGCAGCAGCAGCA	ENSP00000451103.1:n.*515_*516insCAGCAGCAGCAGCAGCAGCA
ENST00000554491.5:n.991_992insCAGCAGCAGCAGCAGCAGCA
ENST00000554592.5:c.912_913insCAGCAGCAGCAGCAGCAGCA	ENSP00000451385.1:p.Gly305GlnfsTer32
ENST00000554672.5:c.621_622insCAGCAGCAGCAGCAGCAGCA	ENSP00000451417.1:p.Gly208GlnfsTer32
ENST00000554994.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCA	ENSP00000451771.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCA
ENST00000555381.5:c.705_706insCAGCAGCAGCAGCAGCAGCA	ENSP00000451001.1:p.Gly236GlnfsTer32
ENST00000555816.5:c.*422_*423insCAGCAGCAGCAGCAGCAGCA	ENSP00000451910.1:n.*422_*423insCAGCAGCAGCAGCAGCAGCA
ENST00000555958.5:n.784_785insCAGCAGCAGCAGCAGCAGCA
ENST00000556082.5:c.*325_*326insCAGCAGCAGCAGCAGCAGCA	ENSP00000450492.1:n.*325_*326insCAGCAGCAGCAGCAGCAGCA
ENST00000556220.5:c.597_598insCAGCAGCAGCAGCAGCAGCA	ENSP00000450641.1:p.Gly200GlnfsTer?
ENST00000556274.5:c.*578_*579insCAGCAGCAGCAGCAGCAGCA	ENSP00000451733.1:n.*578_*579insCAGCAGCAGCAGCAGCAGCA
ENST00000556288.5:c.*566_*567insCAGCAGCAGCAGCAGCAGCA	ENSP00000450566.1:n.*566_*567insCAGCAGCAGCAGCAGCAGCA
ENST00000556315.5:c.*589_*590insCAGCAGCAGCAGCAGCAGCA	ENSP00000451132.1:n.*589_*590insCAGCAGCAGCAGCAGCAGCA
ENST00000556339.5:n.452_453insCAGCAGCAGCAGCAGCAGCA
ENST00000556374.5:c.*643_*644insCAGCAGCAGCAGCAGCAGCA	ENSP00000451399.1:n.*643_*644insCAGCAGCAGCAGCAGCAGCA
ENST00000556644.5:n.299_300insCAGCAGCAGCAGCAGCAGCA
ENST00000556671.5:c.*493_*494insCAGCAGCAGCAGCAGCAGCA	ENSP00000451693.1:n.*493_*494insCAGCAGCAGCAGCAGCAGCA
ENST00000556898.5:c.*412_*413insCAGCAGCAGCAGCAGCAGCA	ENSP00000451769.1:n.*412_*413insCAGCAGCAGCAGCAGCAGCA
ENST00000556958.5:c.*374_*375insCAGCAGCAGCAGCAGCAGCA	ENSP00000452532.1:n.*374_*375insCAGCAGCAGCAGCAGCAGCA
ENST00000557030.5:c.*110_*111insCAGCAGCAGCAGCAGCAGCA	ENSP00000452139.1:n.*110_*111insCAGCAGCAGCAGCAGCAGCA
ENST00000557311.5:c.378_379insCAGCAGCAGCAGCAGCAGCA	ENSP00000450642.1:p.Gly127GlnfsTer32
ENST00000558190.5:c.915_916insCAGCAGCAGCAGCAGCAGCA	ENSP00000478320.1:p.Gly306GlnfsTer32
ENST00000617719.4:c.*73_*74insCAGCAGCAGCAGCAGCAGCA	ENSP00000481998.1:n.*73_*74insCAGCAGCAGCAGCAGCAGCA
ENST00000620536.4:c.942_943insCAGCAGCAGCAGCAGCAGCA	ENSP00000484016.1:p.Gly315GlnfsTer?
ENST00000624063.1:c.31_32insTGCTGCTGCTGCTGCTGCTG	ENSP00000485197.1:p.Pro11LeufsTer?
NM_001127696.1:c.870_871insCAGCAGCAGCAGCAGCAGCA	NP_001121168.1:p.Gly291GlnfsTer32
NM_001127697.2:c.762_763insCAGCAGCAGCAGCAGCAGCA	NP_001121169.2:p.Gly255GlnfsTer32
NM_001164774.1:c.232_233insCAGCAGCAGCAGCAGCAGCA	NP_001158246.1:p.Gly78AlafsTer?
NM_001164776.1:c.277_278insCAGCAGCAGCAGCAGCAGCA	NP_001158248.1:p.Gly93AlafsTer?
NM_001164777.1:c.112_113insCAGCAGCAGCAGCAGCAGCA	NP_001158249.1:p.Gly38AlafsTer?
NM_001164778.1:c.430_431insCAGCAGCAGCAGCAGCAGCA	NP_001158250.1:p.Gly144AlafsTer?
NM_001164779.1:c.552_553insCAGCAGCAGCAGCAGCAGCA	NP_001158251.1:p.Gly185GlnfsTer32
NM_001164780.1:c.378_379insCAGCAGCAGCAGCAGCAGCA	NP_001158252.1:p.Gly127GlnfsTer32
NM_001164781.1:c.705_706insCAGCAGCAGCAGCAGCAGCA	NP_001158253.1:p.Gly236GlnfsTer32
NM_001164782.1:c.67_68insCAGCAGCAGCAGCAGCAGCA	NP_001158254.1:p.Gly23AlafsTer?
NM_004993.5:c.915_916insCAGCAGCAGCAGCAGCAGCA	NP_004984.2:p.Gly306GlnfsTer32
NM_030660.4:c.750_751insCAGCAGCAGCAGCAGCAGCA	NP_109376.1:p.Gly251GlnfsTer32
NR_028453.1:n.898_899insCAGCAGCAGCAGCAGCAGCA
NR_028454.1:n.733_734insCAGCAGCAGCAGCAGCAGCA
NR_028455.1:n.952_953insCAGCAGCAGCAGCAGCAGCA
NR_028456.1:n.787_788insCAGCAGCAGCAGCAGCAGCA
NR_028457.1:n.1043_1044insCAGCAGCAGCAGCAGCAGCA
NR_028458.1:n.887_888insCAGCAGCAGCAGCAGCAGCA
NR_028459.1:n.1038_1039insCAGCAGCAGCAGCAGCAGCA
NR_028460.1:n.413_414insCAGCAGCAGCAGCAGCAGCA
NR_028461.1:n.896_897insCAGCAGCAGCAGCAGCAGCA
NR_028462.1:n.875_876insCAGCAGCAGCAGCAGCAGCA
NR_028463.1:n.587_588insCAGCAGCAGCAGCAGCAGCA
NR_028464.1:n.885_886insCAGCAGCAGCAGCAGCAGCA
NR_028465.1:n.907_908insCAGCAGCAGCAGCAGCAGCA
NR_028466.1:n.533_534insCAGCAGCAGCAGCAGCAGCA
NR_028467.1:n.899_900insCAGCAGCAGCAGCAGCAGCA
NR_028468.1:n.731_732insCAGCAGCAGCAGCAGCAGCA
NR_028469.1:n.745_746insCAGCAGCAGCAGCAGCAGCA
NR_028470.1:n.203_204insCAGCAGCAGCAGCAGCAGCA
NR_031765.1:n.400_401insCAGCAGCAGCAGCAGCAGCA
NM_001127696.2:c.870_871insCAGCAGCAGCAGCAGCAGCA	NP_001121168.1:p.Gly291GlnfsTer32
NM_001164774.2:c.232_233insCAGCAGCAGCAGCAGCAGCA	NP_001158246.1:p.Gly78AlafsTer?
NM_001164776.2:c.277_278insCAGCAGCAGCAGCAGCAGCA	NP_001158248.1:p.Gly93AlafsTer?
NM_001164777.2:c.112_113insCAGCAGCAGCAGCAGCAGCA	NP_001158249.1:p.Gly38AlafsTer?
NM_001164778.2:c.430_431insCAGCAGCAGCAGCAGCAGCA	NP_001158250.1:p.Gly144AlafsTer?
NM_001164779.2:c.552_553insCAGCAGCAGCAGCAGCAGCA	NP_001158251.1:p.Gly185GlnfsTer32
NM_001164780.2:c.378_379insCAGCAGCAGCAGCAGCAGCA	NP_001158252.1:p.Gly127GlnfsTer32
NM_001164782.2:c.67_68insCAGCAGCAGCAGCAGCAGCA	NP_001158254.1:p.Gly23AlafsTer?
NM_004993.6:c.915_916insCAGCAGCAGCAGCAGCAGCA MANE Select	NP_004984.2:p.Gly306GlnfsTer32
NM_030660.5:c.750_751insCAGCAGCAGCAGCAGCAGCA	NP_109376.1:p.Gly251GlnfsTer32
NR_028453.2:n.859_860insCAGCAGCAGCAGCAGCAGCA
NR_028454.2:n.694_695insCAGCAGCAGCAGCAGCAGCA
NR_028455.2:n.913_914insCAGCAGCAGCAGCAGCAGCA
NR_028456.2:n.748_749insCAGCAGCAGCAGCAGCAGCA
NR_028457.2:n.1004_1005insCAGCAGCAGCAGCAGCAGCA
NR_028458.2:n.848_849insCAGCAGCAGCAGCAGCAGCA
NR_028459.2:n.999_1000insCAGCAGCAGCAGCAGCAGCA
NR_028460.2:n.374_375insCAGCAGCAGCAGCAGCAGCA
NR_028461.2:n.857_858insCAGCAGCAGCAGCAGCAGCA
NR_028462.2:n.836_837insCAGCAGCAGCAGCAGCAGCA
NR_028463.2:n.548_549insCAGCAGCAGCAGCAGCAGCA
NR_028464.2:n.846_847insCAGCAGCAGCAGCAGCAGCA
NR_028465.2:n.868_869insCAGCAGCAGCAGCAGCAGCA
NR_028466.2:n.494_495insCAGCAGCAGCAGCAGCAGCA
NR_028467.2:n.860_861insCAGCAGCAGCAGCAGCAGCA
NR_028468.2:n.692_693insCAGCAGCAGCAGCAGCAGCA
NR_028469.2:n.706_707insCAGCAGCAGCAGCAGCAGCA
NR_028470.2:n.164_165insCAGCAGCAGCAGCAGCAGCA
NR_031765.2:n.361_362insCAGCAGCAGCAGCAGCAGCA
NM_001127697.3:c.762_763insCAGCAGCAGCAGCAGCAGCA	NP_001121169.2:p.Gly255GlnfsTer32
NM_001164781.2:c.705_706insCAGCAGCAGCAGCAGCAGCA	NP_001158253.1:p.Gly236GlnfsTer32