Canonical Allele Identifier: CA7314412

Gene: ATXN3

Linked Data

• dbSNP Id: rs759967732
• ExAC: 14:92537353 CCCT / C
• gnomAD v2: 14-92537353-CCCT-C
• gnomAD v3: 14-92071009-CCCT-C
• gnomAD v4: 14-92071009-CCCT-C
• COSMIC: COSM1371592
• MyVariant Identifiers: chr14:g.92537354_92537356del (hg19) ; chr14:g.92537354_92537362delinsGCTGCT (hg19) ; chr14:g.92071010_92071012del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071010_92071012del , CM000676.2:g.92071010_92071012del	GRCh38
NC_000014.8:g.92537354_92537356del , CM000676.1:g.92537354_92537356del	GRCh37
NC_000014.7:g.91607107_91607109del	NCBI36
NG_008198.2:g.40610_40612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*588_*590del	ENSP00000352324.5:n.*588_*590del
ENST00000557030.6:c.*109_*111del	ENSP00000452139.1:n.*109_*111del
ENST00000557311.6:c.377_379del	ENSP00000450642.2:p.Gln126_Gly127delinsArg
ENST00000644486.2:c.914_916del MANE Select	ENSP00000496695.1:p.Gln305_Gly306delinsArg
ENST00000647161.1:c.914_916del	ENSP00000493680.1:p.Gln305_Gly306delinsArg
ENST00000340660.10:c.749_751del	ENSP00000339110.6:p.Gln250_Gly251delinsArg
ENST00000359366.9:c.*588_*590del	ENSP00000352324.5:n.*588_*590del
ENST00000393287.9:c.761_763del	ENSP00000376965.6:p.Gln254_Gly255delinsArg
ENST00000429774.6:c.704_706del	ENSP00000389376.3:p.Gln235_Gly236delinsArg
ENST00000502250.5:c.377_379del	ENSP00000425322.1:p.Gln126_Gly127delinsArg
ENST00000503767.5:c.869_871del	ENSP00000426697.1:p.Gln290_Gly291delinsArg
ENST00000526245.1:n.117-12225_117-12223del
ENST00000532032.5:c.914_916del	ENSP00000437157.1:p.Gln305_Gly306delinsArg
ENST00000545170.5:c.941_943del	ENSP00000445618.2:p.Gln314_Gly315delinsArg
ENST00000553287.5:n.652_654del
ENST00000553309.5:n.948_950del
ENST00000553488.5:c.*729_*731del	ENSP00000452461.1:n.*729_*731del
ENST00000553491.5:c.761_763del	ENSP00000451996.1:p.Gln254_Gly255delinsArg
ENST00000553498.5:n.837_839del
ENST00000553570.5:c.*373_*375del	ENSP00000451405.1:n.*373_*375del
ENST00000553686.5:n.795_797del
ENST00000554040.5:n.518_520del
ENST00000554214.5:n.697_699del
ENST00000554350.5:c.*514_*516del	ENSP00000451103.1:n.*514_*516del
ENST00000554491.5:n.990_992del
ENST00000554592.5:c.911_913del	ENSP00000451385.1:p.Gln304_Gly305delinsArg
ENST00000554672.5:c.620_622del	ENSP00000451417.1:p.Gln207_Gly208delinsArg
ENST00000554994.5:c.*373_*375del	ENSP00000451771.1:n.*373_*375del
ENST00000555381.5:c.704_706del	ENSP00000451001.1:p.Gln235_Gly236delinsArg
ENST00000555816.5:c.*421_*423del	ENSP00000451910.1:n.*421_*423del
ENST00000555958.5:n.783_785del
ENST00000556082.5:c.*324_*326del	ENSP00000450492.1:n.*324_*326del
ENST00000556220.5:c.596_598del	ENSP00000450641.1:p.Gln199_Gly200delinsArg
ENST00000556274.5:c.*577_*579del	ENSP00000451733.1:n.*577_*579del
ENST00000556288.5:c.*565_*567del	ENSP00000450566.1:n.*565_*567del
ENST00000556315.5:c.*588_*590del	ENSP00000451132.1:n.*588_*590del
ENST00000556339.5:n.451_453del
ENST00000556374.5:c.*642_*644del	ENSP00000451399.1:n.*642_*644del
ENST00000556644.5:n.298_300del
ENST00000556671.5:c.*492_*494del	ENSP00000451693.1:n.*492_*494del
ENST00000556898.5:c.*411_*413del	ENSP00000451769.1:n.*411_*413del
ENST00000556958.5:c.*373_*375del	ENSP00000452532.1:n.*373_*375del
ENST00000557030.5:c.*109_*111del	ENSP00000452139.1:n.*109_*111del
ENST00000557311.5:c.377_379del	ENSP00000450642.1:p.Gln126_Gly127delinsArg
ENST00000558190.5:c.914_916del	ENSP00000478320.1:p.Gln305_Gly306delinsArg
ENST00000617719.4:c.*72_*74del	ENSP00000481998.1:n.*72_*74del
ENST00000620536.4:c.941_943del	ENSP00000484016.1:p.Gln314_Gly315delinsArg
ENST00000624063.1:c.31_33del	ENSP00000485197.1:p.Pro11del
NM_001127696.1:c.869_871del	NP_001121168.1:p.Gln290_Gly291delinsArg
NM_001127697.2:c.761_763del	NP_001121169.2:p.Gln254_Gly255delinsArg
NM_001164774.1:c.231_233del	NP_001158246.1:p.Gly78del
NM_001164776.1:c.276_278del	NP_001158248.1:p.Gly93del
NM_001164777.1:c.111_113del	NP_001158249.1:p.Gly38del
NM_001164778.1:c.429_431del	NP_001158250.1:p.Gly144del
NM_001164779.1:c.551_553del	NP_001158251.1:p.Gln184_Gly185delinsArg
NM_001164780.1:c.377_379del	NP_001158252.1:p.Gln126_Gly127delinsArg
NM_001164781.1:c.704_706del	NP_001158253.1:p.Gln235_Gly236delinsArg
NM_001164782.1:c.66_68del	NP_001158254.1:p.Gly23del
NM_004993.5:c.914_916del	NP_004984.2:p.Gln305_Gly306delinsArg
NM_030660.4:c.749_751del	NP_109376.1:p.Gln250_Gly251delinsArg
NR_028453.1:n.897_899del
NR_028454.1:n.732_734del
NR_028455.1:n.951_953del
NR_028456.1:n.786_788del
NR_028457.1:n.1042_1044del
NR_028458.1:n.886_888del
NR_028459.1:n.1037_1039del
NR_028460.1:n.412_414del
NR_028461.1:n.895_897del
NR_028462.1:n.874_876del
NR_028463.1:n.586_588del
NR_028464.1:n.884_886del
NR_028465.1:n.906_908del
NR_028466.1:n.532_534del
NR_028467.1:n.898_900del
NR_028468.1:n.730_732del
NR_028469.1:n.744_746del
NR_028470.1:n.202_204del
NR_031765.1:n.399_401del
NM_001127696.2:c.869_871del	NP_001121168.1:p.Gln290_Gly291delinsArg
NM_001164774.2:c.231_233del	NP_001158246.1:p.Gly78del
NM_001164776.2:c.276_278del	NP_001158248.1:p.Gly93del
NM_001164777.2:c.111_113del	NP_001158249.1:p.Gly38del
NM_001164778.2:c.429_431del	NP_001158250.1:p.Gly144del
NM_001164779.2:c.551_553del	NP_001158251.1:p.Gln184_Gly185delinsArg
NM_001164780.2:c.377_379del	NP_001158252.1:p.Gln126_Gly127delinsArg
NM_001164782.2:c.66_68del	NP_001158254.1:p.Gly23del
NM_004993.6:c.914_916del MANE Select	NP_004984.2:p.Gln305_Gly306delinsArg
NM_030660.5:c.749_751del	NP_109376.1:p.Gln250_Gly251delinsArg
NR_028453.2:n.858_860del
NR_028454.2:n.693_695del
NR_028455.2:n.912_914del
NR_028456.2:n.747_749del
NR_028457.2:n.1003_1005del
NR_028458.2:n.847_849del
NR_028459.2:n.998_1000del
NR_028460.2:n.373_375del
NR_028461.2:n.856_858del
NR_028462.2:n.835_837del
NR_028463.2:n.547_549del
NR_028464.2:n.845_847del
NR_028465.2:n.867_869del
NR_028466.2:n.493_495del
NR_028467.2:n.859_861del
NR_028468.2:n.691_693del
NR_028469.2:n.705_707del
NR_028470.2:n.163_165del
NR_031765.2:n.360_362del
NM_001127697.3:c.761_763del	NP_001121169.2:p.Gln254_Gly255delinsArg
NM_001164781.2:c.704_706del	NP_001158253.1:p.Gln235_Gly236delinsArg