Canonical Allele Identifier: CA965980826

Gene: ATXN3

Linked Data

• dbSNP Id: rs1555397062
• gnomAD v3: 14-92071010-C-CTGCTGCTG
• gnomAD v4: 14-92071010-C-CTGCTGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071010_92071011insTGCTGCTG , CM000676.2:g.92071010_92071011insTGCTGCTG	GRCh38
NC_000014.8:g.92537354_92537355insTGCTGCTG , CM000676.1:g.92537354_92537355insTGCTGCTG	GRCh37
NC_000014.7:g.91607107_91607108insTGCTGCTG	NCBI36
NG_008198.2:g.40611_40612insCAGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*589_*590insCAGCAGCA	ENSP00000352324.5:n.*589_*590insCAGCAGCA
ENST00000557030.6:c.*110_*111insCAGCAGCA	ENSP00000452139.1:n.*110_*111insCAGCAGCA
ENST00000557311.6:c.378_379insCAGCAGCA	ENSP00000450642.2:p.Gly127GlnfsTer?
ENST00000644486.2:c.915_916insCAGCAGCA MANE Select	ENSP00000496695.1:p.Gly306GlnfsTer28
ENST00000647161.1:c.915_916insCAGCAGCA	ENSP00000493680.1:p.Gly306GlnfsTer28
ENST00000340660.10:c.750_751insCAGCAGCA	ENSP00000339110.6:p.Gly251GlnfsTer28
ENST00000359366.9:c.*589_*590insCAGCAGCA	ENSP00000352324.5:n.*589_*590insCAGCAGCA
ENST00000393287.9:c.762_763insCAGCAGCA	ENSP00000376965.6:p.Gly255GlnfsTer28
ENST00000429774.6:c.705_706insCAGCAGCA	ENSP00000389376.3:p.Gly236GlnfsTer28
ENST00000502250.5:c.378_379insCAGCAGCA	ENSP00000425322.1:p.Gly127GlnfsTer28
ENST00000503767.5:c.870_871insCAGCAGCA	ENSP00000426697.1:p.Gly291GlnfsTer28
ENST00000526245.1:n.117-12224_117-12223insCAGCAGCA
ENST00000532032.5:c.915_916insCAGCAGCA	ENSP00000437157.1:p.Gly306GlnfsTer28
ENST00000545170.5:c.942_943insCAGCAGCA	ENSP00000445618.2:p.Gly315GlnfsTer28
ENST00000553287.5:n.653_654insCAGCAGCA
ENST00000553309.5:n.949_950insCAGCAGCA
ENST00000553488.5:c.*730_*731insCAGCAGCA	ENSP00000452461.1:n.*730_*731insCAGCAGCA
ENST00000553491.5:c.762_763insCAGCAGCA	ENSP00000451996.1:p.Gly255GlnfsTer?
ENST00000553498.5:n.838_839insCAGCAGCA
ENST00000553570.5:c.*374_*375insCAGCAGCA	ENSP00000451405.1:n.*374_*375insCAGCAGCA
ENST00000553686.5:n.796_797insCAGCAGCA
ENST00000554040.5:n.519_520insCAGCAGCA
ENST00000554214.5:n.698_699insCAGCAGCA
ENST00000554350.5:c.*515_*516insCAGCAGCA	ENSP00000451103.1:n.*515_*516insCAGCAGCA
ENST00000554491.5:n.991_992insCAGCAGCA
ENST00000554592.5:c.912_913insCAGCAGCA	ENSP00000451385.1:p.Gly305GlnfsTer28
ENST00000554672.5:c.621_622insCAGCAGCA	ENSP00000451417.1:p.Gly208GlnfsTer28
ENST00000554994.5:c.*374_*375insCAGCAGCA	ENSP00000451771.1:n.*374_*375insCAGCAGCA
ENST00000555381.5:c.705_706insCAGCAGCA	ENSP00000451001.1:p.Gly236GlnfsTer28
ENST00000555816.5:c.*422_*423insCAGCAGCA	ENSP00000451910.1:n.*422_*423insCAGCAGCA
ENST00000555958.5:n.784_785insCAGCAGCA
ENST00000556082.5:c.*325_*326insCAGCAGCA	ENSP00000450492.1:n.*325_*326insCAGCAGCA
ENST00000556220.5:c.597_598insCAGCAGCA	ENSP00000450641.1:p.Gly200GlnfsTer?
ENST00000556274.5:c.*578_*579insCAGCAGCA	ENSP00000451733.1:n.*578_*579insCAGCAGCA
ENST00000556288.5:c.*566_*567insCAGCAGCA	ENSP00000450566.1:n.*566_*567insCAGCAGCA
ENST00000556315.5:c.*589_*590insCAGCAGCA	ENSP00000451132.1:n.*589_*590insCAGCAGCA
ENST00000556339.5:n.452_453insCAGCAGCA
ENST00000556374.5:c.*643_*644insCAGCAGCA	ENSP00000451399.1:n.*643_*644insCAGCAGCA
ENST00000556644.5:n.299_300insCAGCAGCA
ENST00000556671.5:c.*493_*494insCAGCAGCA	ENSP00000451693.1:n.*493_*494insCAGCAGCA
ENST00000556898.5:c.*412_*413insCAGCAGCA	ENSP00000451769.1:n.*412_*413insCAGCAGCA
ENST00000556958.5:c.*374_*375insCAGCAGCA	ENSP00000452532.1:n.*374_*375insCAGCAGCA
ENST00000557030.5:c.*110_*111insCAGCAGCA	ENSP00000452139.1:n.*110_*111insCAGCAGCA
ENST00000557311.5:c.378_379insCAGCAGCA	ENSP00000450642.1:p.Gly127GlnfsTer28
ENST00000558190.5:c.915_916insCAGCAGCA	ENSP00000478320.1:p.Gly306GlnfsTer28
ENST00000617719.4:c.*73_*74insCAGCAGCA	ENSP00000481998.1:n.*73_*74insCAGCAGCA
ENST00000620536.4:c.942_943insCAGCAGCA	ENSP00000484016.1:p.Gly315GlnfsTer?
ENST00000624063.1:c.31_32insTGCTGCTG	ENSP00000485197.1:p.Pro11LeufsTer?
NM_001127696.1:c.870_871insCAGCAGCA	NP_001121168.1:p.Gly291GlnfsTer28
NM_001127697.2:c.762_763insCAGCAGCA	NP_001121169.2:p.Gly255GlnfsTer28
NM_001164774.1:c.232_233insCAGCAGCA	NP_001158246.1:p.Gly78AlafsTer?
NM_001164776.1:c.277_278insCAGCAGCA	NP_001158248.1:p.Gly93AlafsTer?
NM_001164777.1:c.112_113insCAGCAGCA	NP_001158249.1:p.Gly38AlafsTer?
NM_001164778.1:c.430_431insCAGCAGCA	NP_001158250.1:p.Gly144AlafsTer?
NM_001164779.1:c.552_553insCAGCAGCA	NP_001158251.1:p.Gly185GlnfsTer28
NM_001164780.1:c.378_379insCAGCAGCA	NP_001158252.1:p.Gly127GlnfsTer28
NM_001164781.1:c.705_706insCAGCAGCA	NP_001158253.1:p.Gly236GlnfsTer28
NM_001164782.1:c.67_68insCAGCAGCA	NP_001158254.1:p.Gly23AlafsTer?
NM_004993.5:c.915_916insCAGCAGCA	NP_004984.2:p.Gly306GlnfsTer28
NM_030660.4:c.750_751insCAGCAGCA	NP_109376.1:p.Gly251GlnfsTer28
NR_028453.1:n.898_899insCAGCAGCA
NR_028454.1:n.733_734insCAGCAGCA
NR_028455.1:n.952_953insCAGCAGCA
NR_028456.1:n.787_788insCAGCAGCA
NR_028457.1:n.1043_1044insCAGCAGCA
NR_028458.1:n.887_888insCAGCAGCA
NR_028459.1:n.1038_1039insCAGCAGCA
NR_028460.1:n.413_414insCAGCAGCA
NR_028461.1:n.896_897insCAGCAGCA
NR_028462.1:n.875_876insCAGCAGCA
NR_028463.1:n.587_588insCAGCAGCA
NR_028464.1:n.885_886insCAGCAGCA
NR_028465.1:n.907_908insCAGCAGCA
NR_028466.1:n.533_534insCAGCAGCA
NR_028467.1:n.899_900insCAGCAGCA
NR_028468.1:n.731_732insCAGCAGCA
NR_028469.1:n.745_746insCAGCAGCA
NR_028470.1:n.203_204insCAGCAGCA
NR_031765.1:n.400_401insCAGCAGCA
NM_001127696.2:c.870_871insCAGCAGCA	NP_001121168.1:p.Gly291GlnfsTer28
NM_001164774.2:c.232_233insCAGCAGCA	NP_001158246.1:p.Gly78AlafsTer?
NM_001164776.2:c.277_278insCAGCAGCA	NP_001158248.1:p.Gly93AlafsTer?
NM_001164777.2:c.112_113insCAGCAGCA	NP_001158249.1:p.Gly38AlafsTer?
NM_001164778.2:c.430_431insCAGCAGCA	NP_001158250.1:p.Gly144AlafsTer?
NM_001164779.2:c.552_553insCAGCAGCA	NP_001158251.1:p.Gly185GlnfsTer28
NM_001164780.2:c.378_379insCAGCAGCA	NP_001158252.1:p.Gly127GlnfsTer28
NM_001164782.2:c.67_68insCAGCAGCA	NP_001158254.1:p.Gly23AlafsTer?
NM_004993.6:c.915_916insCAGCAGCA MANE Select	NP_004984.2:p.Gly306GlnfsTer28
NM_030660.5:c.750_751insCAGCAGCA	NP_109376.1:p.Gly251GlnfsTer28
NR_028453.2:n.859_860insCAGCAGCA
NR_028454.2:n.694_695insCAGCAGCA
NR_028455.2:n.913_914insCAGCAGCA
NR_028456.2:n.748_749insCAGCAGCA
NR_028457.2:n.1004_1005insCAGCAGCA
NR_028458.2:n.848_849insCAGCAGCA
NR_028459.2:n.999_1000insCAGCAGCA
NR_028460.2:n.374_375insCAGCAGCA
NR_028461.2:n.857_858insCAGCAGCA
NR_028462.2:n.836_837insCAGCAGCA
NR_028463.2:n.548_549insCAGCAGCA
NR_028464.2:n.846_847insCAGCAGCA
NR_028465.2:n.868_869insCAGCAGCA
NR_028466.2:n.494_495insCAGCAGCA
NR_028467.2:n.860_861insCAGCAGCA
NR_028468.2:n.692_693insCAGCAGCA
NR_028469.2:n.706_707insCAGCAGCA
NR_028470.2:n.164_165insCAGCAGCA
NR_031765.2:n.361_362insCAGCAGCA
NM_001127697.3:c.762_763insCAGCAGCA	NP_001121169.2:p.Gly255GlnfsTer28
NM_001164781.2:c.705_706insCAGCAGCA	NP_001158253.1:p.Gly236GlnfsTer28