Canonical Allele Identifier: CA7314413

Gene: ATXN3

Linked Data

• dbSNP Id: rs767904273
• ExAC: 14:92537353 CCCTGCTGCT / C
• gnomAD v3: 14-92071009-CCCTGCTGCT-C
• gnomAD v4: 14-92071009-CCCTGCTGCT-C
• MyVariant Identifiers: chr14:g.92537354_92537362del (hg19) ; chr14:g.92071010_92071018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071010_92071018del , CM000676.2:g.92071010_92071018del	GRCh38
NC_000014.8:g.92537354_92537362del , CM000676.1:g.92537354_92537362del	GRCh37
NC_000014.7:g.91607107_91607115del	NCBI36
NG_008198.2:g.40604_40612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*582_*590del	ENSP00000352324.5:n.*582_*590del
ENST00000557030.6:c.*103_*111del	ENSP00000452139.1:n.*103_*111del
ENST00000557311.6:c.371_379del	ENSP00000450642.2:p.Gln124_Gly127delinsArg
ENST00000644486.2:c.908_916del MANE Select	ENSP00000496695.1:p.Gln303_Gly306delinsArg
ENST00000647161.1:c.908_916del	ENSP00000493680.1:p.Gln303_Gly306delinsArg
ENST00000340660.10:c.743_751del	ENSP00000339110.6:p.Gln248_Gly251delinsArg
ENST00000359366.9:c.*582_*590del	ENSP00000352324.5:n.*582_*590del
ENST00000393287.9:c.755_763del	ENSP00000376965.6:p.Gln252_Gly255delinsArg
ENST00000429774.6:c.698_706del	ENSP00000389376.3:p.Gln233_Gly236delinsArg
ENST00000502250.5:c.371_379del	ENSP00000425322.1:p.Gln124_Gly127delinsArg
ENST00000503767.5:c.863_871del	ENSP00000426697.1:p.Gln288_Gly291delinsArg
ENST00000526245.1:n.117-12231_117-12223del
ENST00000532032.5:c.908_916del	ENSP00000437157.1:p.Gln303_Gly306delinsArg
ENST00000545170.5:c.935_943del	ENSP00000445618.2:p.Gln312_Gly315delinsArg
ENST00000553287.5:n.646_654del
ENST00000553309.5:n.942_950del
ENST00000553488.5:c.*723_*731del	ENSP00000452461.1:n.*723_*731del
ENST00000553491.5:c.755_763del	ENSP00000451996.1:p.Gln252_Gly255delinsArg
ENST00000553498.5:n.831_839del
ENST00000553570.5:c.*367_*375del	ENSP00000451405.1:n.*367_*375del
ENST00000553686.5:n.789_797del
ENST00000554040.5:n.512_520del
ENST00000554214.5:n.691_699del
ENST00000554350.5:c.*508_*516del	ENSP00000451103.1:n.*508_*516del
ENST00000554491.5:n.984_992del
ENST00000554592.5:c.905_913del	ENSP00000451385.1:p.Gln302_Gly305delinsArg
ENST00000554672.5:c.614_622del	ENSP00000451417.1:p.Gln205_Gly208delinsArg
ENST00000554994.5:c.*367_*375del	ENSP00000451771.1:n.*367_*375del
ENST00000555381.5:c.698_706del	ENSP00000451001.1:p.Gln233_Gly236delinsArg
ENST00000555816.5:c.*415_*423del	ENSP00000451910.1:n.*415_*423del
ENST00000555958.5:n.777_785del
ENST00000556082.5:c.*318_*326del	ENSP00000450492.1:n.*318_*326del
ENST00000556220.5:c.590_598del	ENSP00000450641.1:p.Gln197_Gly200delinsArg
ENST00000556274.5:c.*571_*579del	ENSP00000451733.1:n.*571_*579del
ENST00000556288.5:c.*559_*567del	ENSP00000450566.1:n.*559_*567del
ENST00000556315.5:c.*582_*590del	ENSP00000451132.1:n.*582_*590del
ENST00000556339.5:n.445_453del
ENST00000556374.5:c.*636_*644del	ENSP00000451399.1:n.*636_*644del
ENST00000556644.5:n.292_300del
ENST00000556671.5:c.*486_*494del	ENSP00000451693.1:n.*486_*494del
ENST00000556898.5:c.*405_*413del	ENSP00000451769.1:n.*405_*413del
ENST00000556958.5:c.*367_*375del	ENSP00000452532.1:n.*367_*375del
ENST00000557030.5:c.*103_*111del	ENSP00000452139.1:n.*103_*111del
ENST00000557311.5:c.371_379del	ENSP00000450642.1:p.Gln124_Gly127delinsArg
ENST00000558190.5:c.908_916del	ENSP00000478320.1:p.Gln303_Gly306delinsArg
ENST00000617719.4:c.*66_*74del	ENSP00000481998.1:n.*66_*74del
ENST00000620536.4:c.935_943del	ENSP00000484016.1:p.Gln312_Gly315delinsArg
ENST00000624063.1:c.31_39del	ENSP00000485197.1:p.Pro11_Ala13del
NM_001127696.1:c.863_871del	NP_001121168.1:p.Gln288_Gly291delinsArg
NM_001127697.2:c.755_763del	NP_001121169.2:p.Gln252_Gly255delinsArg
NM_001164774.1:c.225_233del	NP_001158246.1:p.Ala76_Gly78del
NM_001164776.1:c.270_278del	NP_001158248.1:p.Ala91_Gly93del
NM_001164777.1:c.105_113del	NP_001158249.1:p.Ala36_Gly38del
NM_001164778.1:c.423_431del	NP_001158250.1:p.Ala142_Gly144del
NM_001164779.1:c.545_553del	NP_001158251.1:p.Gln182_Gly185delinsArg
NM_001164780.1:c.371_379del	NP_001158252.1:p.Gln124_Gly127delinsArg
NM_001164781.1:c.698_706del	NP_001158253.1:p.Gln233_Gly236delinsArg
NM_001164782.1:c.60_68del	NP_001158254.1:p.Ala21_Gly23del
NM_004993.5:c.908_916del	NP_004984.2:p.Gln303_Gly306delinsArg
NM_030660.4:c.743_751del	NP_109376.1:p.Gln248_Gly251delinsArg
NR_028453.1:n.891_899del
NR_028454.1:n.726_734del
NR_028455.1:n.945_953del
NR_028456.1:n.780_788del
NR_028457.1:n.1036_1044del
NR_028458.1:n.880_888del
NR_028459.1:n.1031_1039del
NR_028460.1:n.406_414del
NR_028461.1:n.889_897del
NR_028462.1:n.868_876del
NR_028463.1:n.580_588del
NR_028464.1:n.878_886del
NR_028465.1:n.900_908del
NR_028466.1:n.526_534del
NR_028467.1:n.892_900del
NR_028468.1:n.724_732del
NR_028469.1:n.738_746del
NR_028470.1:n.196_204del
NR_031765.1:n.393_401del
NM_001127696.2:c.863_871del	NP_001121168.1:p.Gln288_Gly291delinsArg
NM_001164774.2:c.225_233del	NP_001158246.1:p.Ala76_Gly78del
NM_001164776.2:c.270_278del	NP_001158248.1:p.Ala91_Gly93del
NM_001164777.2:c.105_113del	NP_001158249.1:p.Ala36_Gly38del
NM_001164778.2:c.423_431del	NP_001158250.1:p.Ala142_Gly144del
NM_001164779.2:c.545_553del	NP_001158251.1:p.Gln182_Gly185delinsArg
NM_001164780.2:c.371_379del	NP_001158252.1:p.Gln124_Gly127delinsArg
NM_001164782.2:c.60_68del	NP_001158254.1:p.Ala21_Gly23del
NM_004993.6:c.908_916del MANE Select	NP_004984.2:p.Gln303_Gly306delinsArg
NM_030660.5:c.743_751del	NP_109376.1:p.Gln248_Gly251delinsArg
NR_028453.2:n.852_860del
NR_028454.2:n.687_695del
NR_028455.2:n.906_914del
NR_028456.2:n.741_749del
NR_028457.2:n.997_1005del
NR_028458.2:n.841_849del
NR_028459.2:n.992_1000del
NR_028460.2:n.367_375del
NR_028461.2:n.850_858del
NR_028462.2:n.829_837del
NR_028463.2:n.541_549del
NR_028464.2:n.839_847del
NR_028465.2:n.861_869del
NR_028466.2:n.487_495del
NR_028467.2:n.853_861del
NR_028468.2:n.685_693del
NR_028469.2:n.699_707del
NR_028470.2:n.157_165del
NR_031765.2:n.354_362del
NM_001127697.3:c.755_763del	NP_001121169.2:p.Gln252_Gly255delinsArg
NM_001164781.2:c.698_706del	NP_001158253.1:p.Gln233_Gly236delinsArg