Canonical Allele Identifier: CA2155255612

Gene: ATXN3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92071009_92071010delinsCC , CM000676.2:g.92071009_92071010delinsCC	GRCh38
NC_000014.8:g.92537353_92537354delinsCC , CM000676.1:g.92537353_92537354delinsCC	GRCh37
NC_000014.7:g.91607106_91607107delinsCC	NCBI36
NG_008198.2:g.40612_40613delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*590_*591delinsGG	ENSP00000352324.5:n.*590_*591delinsGG
ENST00000557030.6:c.*111_*112delinsGG	ENSP00000452139.1:n.*111_*112delinsGG
ENST00000557311.6:c.379_380delinsGG	ENSP00000450642.2:p.Gly127=
ENST00000644486.2:c.916_917delinsGG MANE Select	ENSP00000496695.1:p.Gly306=
ENST00000647161.1:c.916_917delinsGG	ENSP00000493680.1:p.Gly306=
ENST00000340660.10:c.751_752delinsGG	ENSP00000339110.6:p.Gly251=
ENST00000359366.9:c.*590_*591delinsGG	ENSP00000352324.5:n.*590_*591delinsGG
ENST00000393287.9:c.763_764delinsGG	ENSP00000376965.6:p.Gly255=
ENST00000429774.6:c.706_707delinsGG	ENSP00000389376.3:p.Gly236=
ENST00000502250.5:c.379_380delinsGG	ENSP00000425322.1:p.Gly127=
ENST00000503767.5:c.871_872delinsGG	ENSP00000426697.1:p.Gly291=
ENST00000526245.1:n.117-12223_117-12222delinsGG
ENST00000532032.5:c.916_917delinsGG	ENSP00000437157.1:p.Gly306=
ENST00000545170.5:c.943_944delinsGG	ENSP00000445618.2:p.Gly315=
ENST00000553287.5:n.654_655delinsGG
ENST00000553309.5:n.950_951delinsGG
ENST00000553488.5:c.*731_*732delinsGG	ENSP00000452461.1:n.*731_*732delinsGG
ENST00000553491.5:c.763_764delinsGG	ENSP00000451996.1:p.Gly255=
ENST00000553498.5:n.839_840delinsGG
ENST00000553570.5:c.*375_*376delinsGG	ENSP00000451405.1:n.*375_*376delinsGG
ENST00000553686.5:n.797_798delinsGG
ENST00000554040.5:n.520_521delinsGG
ENST00000554214.5:n.699_700delinsGG
ENST00000554350.5:c.*516_*517delinsGG	ENSP00000451103.1:n.*516_*517delinsGG
ENST00000554491.5:n.992_993delinsGG
ENST00000554592.5:c.913_914delinsGG	ENSP00000451385.1:p.Gly305=
ENST00000554672.5:c.622_623delinsGG	ENSP00000451417.1:p.Gly208=
ENST00000554994.5:c.*375_*376delinsGG	ENSP00000451771.1:n.*375_*376delinsGG
ENST00000555381.5:c.706_707delinsGG	ENSP00000451001.1:p.Gly236=
ENST00000555816.5:c.*423_*424delinsGG	ENSP00000451910.1:n.*423_*424delinsGG
ENST00000555958.5:n.785_786delinsGG
ENST00000556082.5:c.*326_*327delinsGG	ENSP00000450492.1:n.*326_*327delinsGG
ENST00000556220.5:c.598_599delinsGG	ENSP00000450641.1:p.Gly200=
ENST00000556274.5:c.*579_*580delinsGG	ENSP00000451733.1:n.*579_*580delinsGG
ENST00000556288.5:c.*567_*568delinsGG	ENSP00000450566.1:n.*567_*568delinsGG
ENST00000556315.5:c.*590_*591delinsGG	ENSP00000451132.1:n.*590_*591delinsGG
ENST00000556339.5:n.453_454delinsGG
ENST00000556374.5:c.*644_*645delinsGG	ENSP00000451399.1:n.*644_*645delinsGG
ENST00000556644.5:n.300_301delinsGG
ENST00000556671.5:c.*494_*495delinsGG	ENSP00000451693.1:n.*494_*495delinsGG
ENST00000556898.5:c.*413_*414delinsGG	ENSP00000451769.1:n.*413_*414delinsGG
ENST00000556958.5:c.*375_*376delinsGG	ENSP00000452532.1:n.*375_*376delinsGG
ENST00000557030.5:c.*111_*112delinsGG	ENSP00000452139.1:n.*111_*112delinsGG
ENST00000557311.5:c.379_380delinsGG	ENSP00000450642.1:p.Gly127=
ENST00000558190.5:c.916_917delinsGG	ENSP00000478320.1:p.Gly306=
ENST00000617719.4:c.*74_*75delinsGG	ENSP00000481998.1:n.*74_*75delinsGG
ENST00000620536.4:c.943_944delinsGG	ENSP00000484016.1:p.Gly315=
ENST00000624063.1:c.30_31delinsCC	ENSP00000485197.1:p.Pro10=
NM_001127696.1:c.871_872delinsGG	NP_001121168.1:p.Gly291=
NM_001127697.2:c.763_764delinsGG	NP_001121169.2:p.Gly255=
NM_001164774.1:c.233_234delinsGG	NP_001158246.1:p.Gly78=
NM_001164776.1:c.278_279delinsGG	NP_001158248.1:p.Gly93=
NM_001164777.1:c.113_114delinsGG	NP_001158249.1:p.Gly38=
NM_001164778.1:c.431_432delinsGG	NP_001158250.1:p.Gly144=
NM_001164779.1:c.553_554delinsGG	NP_001158251.1:p.Gly185=
NM_001164780.1:c.379_380delinsGG	NP_001158252.1:p.Gly127=
NM_001164781.1:c.706_707delinsGG	NP_001158253.1:p.Gly236=
NM_001164782.1:c.68_69delinsGG	NP_001158254.1:p.Gly23=
NM_004993.5:c.916_917delinsGG	NP_004984.2:p.Gly306=
NM_030660.4:c.751_752delinsGG	NP_109376.1:p.Gly251=
NR_028453.1:n.899_900delinsGG
NR_028454.1:n.734_735delinsGG
NR_028455.1:n.953_954delinsGG
NR_028456.1:n.788_789delinsGG
NR_028457.1:n.1044_1045delinsGG
NR_028458.1:n.888_889delinsGG
NR_028459.1:n.1039_1040delinsGG
NR_028460.1:n.414_415delinsGG
NR_028461.1:n.897_898delinsGG
NR_028462.1:n.876_877delinsGG
NR_028463.1:n.588_589delinsGG
NR_028464.1:n.886_887delinsGG
NR_028465.1:n.908_909delinsGG
NR_028466.1:n.534_535delinsGG
NR_028467.1:n.900_901delinsGG
NR_028468.1:n.732_733delinsGG
NR_028469.1:n.746_747delinsGG
NR_028470.1:n.204_205delinsGG
NR_031765.1:n.401_402delinsGG
NM_001127696.2:c.871_872delinsGG	NP_001121168.1:p.Gly291=
NM_001164774.2:c.233_234delinsGG	NP_001158246.1:p.Gly78=
NM_001164776.2:c.278_279delinsGG	NP_001158248.1:p.Gly93=
NM_001164777.2:c.113_114delinsGG	NP_001158249.1:p.Gly38=
NM_001164778.2:c.431_432delinsGG	NP_001158250.1:p.Gly144=
NM_001164779.2:c.553_554delinsGG	NP_001158251.1:p.Gly185=
NM_001164780.2:c.379_380delinsGG	NP_001158252.1:p.Gly127=
NM_001164782.2:c.68_69delinsGG	NP_001158254.1:p.Gly23=
NM_004993.6:c.916_917delinsGG MANE Select	NP_004984.2:p.Gly306=
NM_030660.5:c.751_752delinsGG	NP_109376.1:p.Gly251=
NR_028453.2:n.860_861delinsGG
NR_028454.2:n.695_696delinsGG
NR_028455.2:n.914_915delinsGG
NR_028456.2:n.749_750delinsGG
NR_028457.2:n.1005_1006delinsGG
NR_028458.2:n.849_850delinsGG
NR_028459.2:n.1000_1001delinsGG
NR_028460.2:n.375_376delinsGG
NR_028461.2:n.858_859delinsGG
NR_028462.2:n.837_838delinsGG
NR_028463.2:n.549_550delinsGG
NR_028464.2:n.847_848delinsGG
NR_028465.2:n.869_870delinsGG
NR_028466.2:n.495_496delinsGG
NR_028467.2:n.861_862delinsGG
NR_028468.2:n.693_694delinsGG
NR_028469.2:n.707_708delinsGG
NR_028470.2:n.165_166delinsGG
NR_031765.2:n.362_363delinsGG
NM_001127697.3:c.763_764delinsGG	NP_001121169.2:p.Gly255=
NM_001164781.2:c.706_707delinsGG	NP_001158253.1:p.Gly236=