Canonical Allele Identifier: CA965980837

Gene: ATXN3

Linked Data

• ClinVar Variation Id: 1050299
• ClinVar RCV Id: RCV001357528
• dbSNP Id: rs1555397062
• gnomAD v3: 14-92071010-C-CTG
• gnomAD v4: 14-92071010-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071010_92071011insTG , CM000676.2:g.92071010_92071011insTG	GRCh38
NC_000014.8:g.92537354_92537355insTG , CM000676.1:g.92537354_92537355insTG	GRCh37
NC_000014.7:g.91607107_91607108insTG	NCBI36
NG_008198.2:g.40611_40612insCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000359366.10:c.*589_*590insCA	ENSP00000352324.5:n.*589_*590insCA
ENST00000557030.6:c.*110_*111insCA	ENSP00000452139.1:n.*110_*111insCA
ENST00000557311.6:c.378_379insCA	ENSP00000450642.2:p.Gly127GlnfsTer?
ENST00000644486.2:c.915_916insCA MANE Select	ENSP00000496695.1:p.Gly306GlnfsTer26
ENST00000647161.1:c.915_916insCA	ENSP00000493680.1:p.Gly306GlnfsTer26
ENST00000340660.10:c.750_751insCA	ENSP00000339110.6:p.Gly251GlnfsTer26
ENST00000359366.9:c.*589_*590insCA	ENSP00000352324.5:n.*589_*590insCA
ENST00000393287.9:c.762_763insCA	ENSP00000376965.6:p.Gly255GlnfsTer26
ENST00000429774.6:c.705_706insCA	ENSP00000389376.3:p.Gly236GlnfsTer26
ENST00000502250.5:c.378_379insCA	ENSP00000425322.1:p.Gly127GlnfsTer26
ENST00000503767.5:c.870_871insCA	ENSP00000426697.1:p.Gly291GlnfsTer26
ENST00000526245.1:n.117-12224_117-12223insCA
ENST00000532032.5:c.915_916insCA	ENSP00000437157.1:p.Gly306GlnfsTer26
ENST00000545170.5:c.942_943insCA	ENSP00000445618.2:p.Gly315GlnfsTer26
ENST00000553287.5:n.653_654insCA
ENST00000553309.5:n.949_950insCA
ENST00000553488.5:c.*730_*731insCA	ENSP00000452461.1:n.*730_*731insCA
ENST00000553491.5:c.762_763insCA	ENSP00000451996.1:p.Gly255GlnfsTer?
ENST00000553498.5:n.838_839insCA
ENST00000553570.5:c.*374_*375insCA	ENSP00000451405.1:n.*374_*375insCA
ENST00000553686.5:n.796_797insCA
ENST00000554040.5:n.519_520insCA
ENST00000554214.5:n.698_699insCA
ENST00000554350.5:c.*515_*516insCA	ENSP00000451103.1:n.*515_*516insCA
ENST00000554491.5:n.991_992insCA
ENST00000554592.5:c.912_913insCA	ENSP00000451385.1:p.Gly305GlnfsTer26
ENST00000554672.5:c.621_622insCA	ENSP00000451417.1:p.Gly208GlnfsTer26
ENST00000554994.5:c.*374_*375insCA	ENSP00000451771.1:n.*374_*375insCA
ENST00000555381.5:c.705_706insCA	ENSP00000451001.1:p.Gly236GlnfsTer26
ENST00000555816.5:c.*422_*423insCA	ENSP00000451910.1:n.*422_*423insCA
ENST00000555958.5:n.784_785insCA
ENST00000556082.5:c.*325_*326insCA	ENSP00000450492.1:n.*325_*326insCA
ENST00000556220.5:c.597_598insCA	ENSP00000450641.1:p.Gly200GlnfsTer?
ENST00000556274.5:c.*578_*579insCA	ENSP00000451733.1:n.*578_*579insCA
ENST00000556288.5:c.*566_*567insCA	ENSP00000450566.1:n.*566_*567insCA
ENST00000556315.5:c.*589_*590insCA	ENSP00000451132.1:n.*589_*590insCA
ENST00000556339.5:n.452_453insCA
ENST00000556374.5:c.*643_*644insCA	ENSP00000451399.1:n.*643_*644insCA
ENST00000556644.5:n.299_300insCA
ENST00000556671.5:c.*493_*494insCA	ENSP00000451693.1:n.*493_*494insCA
ENST00000556898.5:c.*412_*413insCA	ENSP00000451769.1:n.*412_*413insCA
ENST00000556958.5:c.*374_*375insCA	ENSP00000452532.1:n.*374_*375insCA
ENST00000557030.5:c.*110_*111insCA	ENSP00000452139.1:n.*110_*111insCA
ENST00000557311.5:c.378_379insCA	ENSP00000450642.1:p.Gly127GlnfsTer26
ENST00000558190.5:c.915_916insCA	ENSP00000478320.1:p.Gly306GlnfsTer26
ENST00000617719.4:c.*73_*74insCA	ENSP00000481998.1:n.*73_*74insCA
ENST00000620536.4:c.942_943insCA	ENSP00000484016.1:p.Gly315GlnfsTer?
ENST00000624063.1:c.31_32insTG	ENSP00000485197.1:p.Pro11LeufsTer?
NM_001127696.1:c.870_871insCA	NP_001121168.1:p.Gly291GlnfsTer26
NM_001127697.2:c.762_763insCA	NP_001121169.2:p.Gly255GlnfsTer26
NM_001164774.1:c.232_233insCA	NP_001158246.1:p.Gly78AlafsTer?
NM_001164776.1:c.277_278insCA	NP_001158248.1:p.Gly93AlafsTer?
NM_001164777.1:c.112_113insCA	NP_001158249.1:p.Gly38AlafsTer?
NM_001164778.1:c.430_431insCA	NP_001158250.1:p.Gly144AlafsTer?
NM_001164779.1:c.552_553insCA	NP_001158251.1:p.Gly185GlnfsTer26
NM_001164780.1:c.378_379insCA	NP_001158252.1:p.Gly127GlnfsTer26
NM_001164781.1:c.705_706insCA	NP_001158253.1:p.Gly236GlnfsTer26
NM_001164782.1:c.67_68insCA	NP_001158254.1:p.Gly23AlafsTer?
NM_004993.5:c.915_916insCA	NP_004984.2:p.Gly306GlnfsTer26
NM_030660.4:c.750_751insCA	NP_109376.1:p.Gly251GlnfsTer26
NR_028453.1:n.898_899insCA
NR_028454.1:n.733_734insCA
NR_028455.1:n.952_953insCA
NR_028456.1:n.787_788insCA
NR_028457.1:n.1043_1044insCA
NR_028458.1:n.887_888insCA
NR_028459.1:n.1038_1039insCA
NR_028460.1:n.413_414insCA
NR_028461.1:n.896_897insCA
NR_028462.1:n.875_876insCA
NR_028463.1:n.587_588insCA
NR_028464.1:n.885_886insCA
NR_028465.1:n.907_908insCA
NR_028466.1:n.533_534insCA
NR_028467.1:n.899_900insCA
NR_028468.1:n.731_732insCA
NR_028469.1:n.745_746insCA
NR_028470.1:n.203_204insCA
NR_031765.1:n.400_401insCA
NM_001127696.2:c.870_871insCA	NP_001121168.1:p.Gly291GlnfsTer26
NM_001164774.2:c.232_233insCA	NP_001158246.1:p.Gly78AlafsTer?
NM_001164776.2:c.277_278insCA	NP_001158248.1:p.Gly93AlafsTer?
NM_001164777.2:c.112_113insCA	NP_001158249.1:p.Gly38AlafsTer?
NM_001164778.2:c.430_431insCA	NP_001158250.1:p.Gly144AlafsTer?
NM_001164779.2:c.552_553insCA	NP_001158251.1:p.Gly185GlnfsTer26
NM_001164780.2:c.378_379insCA	NP_001158252.1:p.Gly127GlnfsTer26
NM_001164782.2:c.67_68insCA	NP_001158254.1:p.Gly23AlafsTer?
NM_004993.6:c.915_916insCA MANE Select	NP_004984.2:p.Gly306GlnfsTer26
NM_030660.5:c.750_751insCA	NP_109376.1:p.Gly251GlnfsTer26
NR_028453.2:n.859_860insCA
NR_028454.2:n.694_695insCA
NR_028455.2:n.913_914insCA
NR_028456.2:n.748_749insCA
NR_028457.2:n.1004_1005insCA
NR_028458.2:n.848_849insCA
NR_028459.2:n.999_1000insCA
NR_028460.2:n.374_375insCA
NR_028461.2:n.857_858insCA
NR_028462.2:n.836_837insCA
NR_028463.2:n.548_549insCA
NR_028464.2:n.846_847insCA
NR_028465.2:n.868_869insCA
NR_028466.2:n.494_495insCA
NR_028467.2:n.860_861insCA
NR_028468.2:n.692_693insCA
NR_028469.2:n.706_707insCA
NR_028470.2:n.164_165insCA
NR_031765.2:n.361_362insCA
NM_001127697.3:c.762_763insCA	NP_001121169.2:p.Gly255GlnfsTer26
NM_001164781.2:c.705_706insCA	NP_001158253.1:p.Gly236GlnfsTer26