Canonical Allele Identifier: CA2155255611

Gene: ATXN3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071009_92071012delinsCCCT , CM000676.2:g.92071009_92071012delinsCCCT	GRCh38
NC_000014.8:g.92537353_92537356delinsCCCT , CM000676.1:g.92537353_92537356delinsCCCT	GRCh37
NC_000014.7:g.91607106_91607109delinsCCCT	NCBI36
NG_008198.2:g.40610_40613delinsAGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000359366.10:c.*588_*591delinsAGGG	ENSP00000352324.5:n.*588_*591delinsAGGG
ENST00000557030.6:c.*109_*112delinsAGGG	ENSP00000452139.1:n.*109_*112delinsAGGG
ENST00000557311.6:c.377_380delinsAGGG	ENSP00000450642.2:p.Gln126=
ENST00000644486.2:c.914_917delinsAGGG MANE Select	ENSP00000496695.1:p.Gln305=
ENST00000647161.1:c.914_917delinsAGGG	ENSP00000493680.1:p.Gln305=
ENST00000340660.10:c.749_752delinsAGGG	ENSP00000339110.6:p.Gln250=
ENST00000359366.9:c.*588_*591delinsAGGG	ENSP00000352324.5:n.*588_*591delinsAGGG
ENST00000393287.9:c.761_764delinsAGGG	ENSP00000376965.6:p.Gln254=
ENST00000429774.6:c.704_707delinsAGGG	ENSP00000389376.3:p.Gln235=
ENST00000502250.5:c.377_380delinsAGGG	ENSP00000425322.1:p.Gln126=
ENST00000503767.5:c.869_872delinsAGGG	ENSP00000426697.1:p.Gln290=
ENST00000526245.1:n.117-12225_117-12222delinsAGGG
ENST00000532032.5:c.914_917delinsAGGG	ENSP00000437157.1:p.Gln305=
ENST00000545170.5:c.941_944delinsAGGG	ENSP00000445618.2:p.Gln314=
ENST00000553287.5:n.652_655delinsAGGG
ENST00000553309.5:n.948_951delinsAGGG
ENST00000553488.5:c.*729_*732delinsAGGG	ENSP00000452461.1:n.*729_*732delinsAGGG
ENST00000553491.5:c.761_764delinsAGGG	ENSP00000451996.1:p.Gln254=
ENST00000553498.5:n.837_840delinsAGGG
ENST00000553570.5:c.*373_*376delinsAGGG	ENSP00000451405.1:n.*373_*376delinsAGGG
ENST00000553686.5:n.795_798delinsAGGG
ENST00000554040.5:n.518_521delinsAGGG
ENST00000554214.5:n.697_700delinsAGGG
ENST00000554350.5:c.*514_*517delinsAGGG	ENSP00000451103.1:n.*514_*517delinsAGGG
ENST00000554491.5:n.990_993delinsAGGG
ENST00000554592.5:c.911_914delinsAGGG	ENSP00000451385.1:p.Gln304=
ENST00000554672.5:c.620_623delinsAGGG	ENSP00000451417.1:p.Gln207=
ENST00000554994.5:c.*373_*376delinsAGGG	ENSP00000451771.1:n.*373_*376delinsAGGG
ENST00000555381.5:c.704_707delinsAGGG	ENSP00000451001.1:p.Gln235=
ENST00000555816.5:c.*421_*424delinsAGGG	ENSP00000451910.1:n.*421_*424delinsAGGG
ENST00000555958.5:n.783_786delinsAGGG
ENST00000556082.5:c.*324_*327delinsAGGG	ENSP00000450492.1:n.*324_*327delinsAGGG
ENST00000556220.5:c.596_599delinsAGGG	ENSP00000450641.1:p.Gln199=
ENST00000556274.5:c.*577_*580delinsAGGG	ENSP00000451733.1:n.*577_*580delinsAGGG
ENST00000556288.5:c.*565_*568delinsAGGG	ENSP00000450566.1:n.*565_*568delinsAGGG
ENST00000556315.5:c.*588_*591delinsAGGG	ENSP00000451132.1:n.*588_*591delinsAGGG
ENST00000556339.5:n.451_454delinsAGGG
ENST00000556374.5:c.*642_*645delinsAGGG	ENSP00000451399.1:n.*642_*645delinsAGGG
ENST00000556644.5:n.298_301delinsAGGG
ENST00000556671.5:c.*492_*495delinsAGGG	ENSP00000451693.1:n.*492_*495delinsAGGG
ENST00000556898.5:c.*411_*414delinsAGGG	ENSP00000451769.1:n.*411_*414delinsAGGG
ENST00000556958.5:c.*373_*376delinsAGGG	ENSP00000452532.1:n.*373_*376delinsAGGG
ENST00000557030.5:c.*109_*112delinsAGGG	ENSP00000452139.1:n.*109_*112delinsAGGG
ENST00000557311.5:c.377_380delinsAGGG	ENSP00000450642.1:p.Gln126=
ENST00000558190.5:c.914_917delinsAGGG	ENSP00000478320.1:p.Gln305=
ENST00000617719.4:c.*72_*75delinsAGGG	ENSP00000481998.1:n.*72_*75delinsAGGG
ENST00000620536.4:c.941_944delinsAGGG	ENSP00000484016.1:p.Gln314=
ENST00000624063.1:c.30_33delinsCCCT	ENSP00000485197.1:p.Pro10=
NM_001127696.1:c.869_872delinsAGGG	NP_001121168.1:p.Gln290=
NM_001127697.2:c.761_764delinsAGGG	NP_001121169.2:p.Gln254=
NM_001164774.1:c.231_234delinsAGGG	NP_001158246.1:p.Ala77=
NM_001164776.1:c.276_279delinsAGGG	NP_001158248.1:p.Ala92=
NM_001164777.1:c.111_114delinsAGGG	NP_001158249.1:p.Ala37=
NM_001164778.1:c.429_432delinsAGGG	NP_001158250.1:p.Ala143=
NM_001164779.1:c.551_554delinsAGGG	NP_001158251.1:p.Gln184=
NM_001164780.1:c.377_380delinsAGGG	NP_001158252.1:p.Gln126=
NM_001164781.1:c.704_707delinsAGGG	NP_001158253.1:p.Gln235=
NM_001164782.1:c.66_69delinsAGGG	NP_001158254.1:p.Ala22=
NM_004993.5:c.914_917delinsAGGG	NP_004984.2:p.Gln305=
NM_030660.4:c.749_752delinsAGGG	NP_109376.1:p.Gln250=
NR_028453.1:n.897_900delinsAGGG
NR_028454.1:n.732_735delinsAGGG
NR_028455.1:n.951_954delinsAGGG
NR_028456.1:n.786_789delinsAGGG
NR_028457.1:n.1042_1045delinsAGGG
NR_028458.1:n.886_889delinsAGGG
NR_028459.1:n.1037_1040delinsAGGG
NR_028460.1:n.412_415delinsAGGG
NR_028461.1:n.895_898delinsAGGG
NR_028462.1:n.874_877delinsAGGG
NR_028463.1:n.586_589delinsAGGG
NR_028464.1:n.884_887delinsAGGG
NR_028465.1:n.906_909delinsAGGG
NR_028466.1:n.532_535delinsAGGG
NR_028467.1:n.898_901delinsAGGG
NR_028468.1:n.730_733delinsAGGG
NR_028469.1:n.744_747delinsAGGG
NR_028470.1:n.202_205delinsAGGG
NR_031765.1:n.399_402delinsAGGG
NM_001127696.2:c.869_872delinsAGGG	NP_001121168.1:p.Gln290=
NM_001164774.2:c.231_234delinsAGGG	NP_001158246.1:p.Ala77=
NM_001164776.2:c.276_279delinsAGGG	NP_001158248.1:p.Ala92=
NM_001164777.2:c.111_114delinsAGGG	NP_001158249.1:p.Ala37=
NM_001164778.2:c.429_432delinsAGGG	NP_001158250.1:p.Ala143=
NM_001164779.2:c.551_554delinsAGGG	NP_001158251.1:p.Gln184=
NM_001164780.2:c.377_380delinsAGGG	NP_001158252.1:p.Gln126=
NM_001164782.2:c.66_69delinsAGGG	NP_001158254.1:p.Ala22=
NM_004993.6:c.914_917delinsAGGG MANE Select	NP_004984.2:p.Gln305=
NM_030660.5:c.749_752delinsAGGG	NP_109376.1:p.Gln250=
NR_028453.2:n.858_861delinsAGGG
NR_028454.2:n.693_696delinsAGGG
NR_028455.2:n.912_915delinsAGGG
NR_028456.2:n.747_750delinsAGGG
NR_028457.2:n.1003_1006delinsAGGG
NR_028458.2:n.847_850delinsAGGG
NR_028459.2:n.998_1001delinsAGGG
NR_028460.2:n.373_376delinsAGGG
NR_028461.2:n.856_859delinsAGGG
NR_028462.2:n.835_838delinsAGGG
NR_028463.2:n.547_550delinsAGGG
NR_028464.2:n.845_848delinsAGGG
NR_028465.2:n.867_870delinsAGGG
NR_028466.2:n.493_496delinsAGGG
NR_028467.2:n.859_862delinsAGGG
NR_028468.2:n.691_694delinsAGGG
NR_028469.2:n.705_708delinsAGGG
NR_028470.2:n.163_166delinsAGGG
NR_031765.2:n.360_363delinsAGGG
NM_001127697.3:c.761_764delinsAGGG	NP_001121169.2:p.Gln254=
NM_001164781.2:c.704_707delinsAGGG	NP_001158253.1:p.Gln235=