Canonical Allele Identifier: CA265646381

Gene: ATXN3

Linked Data

• dbSNP Id: rs201942080
• MyVariant Identifiers: chr14:g.92556100_92556101insGG (hg19) ; chr14:g.92089756_92089757insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92089756_92089757insGG , CM000676.2:g.92089756_92089757insGG	GRCh38
NC_000014.8:g.92556100_92556101insGG , CM000676.1:g.92556100_92556101insGG	GRCh37
NC_000014.7:g.91625853_91625854insGG	NCBI36
NG_008198.2:g.21865_21866insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359366.10:c.*62-940_*62-939insCC	ENSP00000352324.5:n.*62-940_*62-939insCC
ENST00000515746.6:c.234+6336_234+6337insCC	ENSP00000422073.1:n.234+6336_234+6337insCC
ENST00000526872.3:c.370+3495_370+3496insCC
ENST00000554672.6:c.-150-940_-150-939insCC	ENSP00000451417.2:n.-150-940_-150-939insCC
ENST00000556082.6:c.*62-940_*62-939insCC	ENSP00000450492.1:n.*62-940_*62-939insCC
ENST00000556315.6:c.*62-940_*62-939insCC	ENSP00000451132.1:n.*62-940_*62-939insCC
ENST00000557030.6:c.190-940_190-939insCC	ENSP00000452139.1:n.190-940_190-939insCC
ENST00000557311.6:c.-62-6499_-62-6498insCC	ENSP00000450642.2:n.-62-6499_-62-6498insCC
ENST00000644486.2:c.388-940_388-939insCC MANE Select	ENSP00000496695.1:n.388-940_388-939insCC
ENST00000646485.1:c.-150-940_-150-939insCC	ENSP00000496590.1:n.-150-940_-150-939insCC
ENST00000647161.1:c.388-940_388-939insCC	ENSP00000493680.1:n.388-940_388-939insCC
ENST00000340660.10:c.223-940_223-939insCC	ENSP00000339110.6:n.223-940_223-939insCC
ENST00000359366.9:c.*62-940_*62-939insCC	ENSP00000352324.5:n.*62-940_*62-939insCC
ENST00000393287.9:c.235-940_235-939insCC	ENSP00000376965.6:n.235-940_235-939insCC
ENST00000429774.6:c.178-940_178-939insCC	ENSP00000389376.3:n.178-940_178-939insCC
ENST00000502250.5:c.-150-940_-150-939insCC	ENSP00000425322.1:n.-150-940_-150-939insCC
ENST00000503767.5:c.343-940_343-939insCC	ENSP00000426697.1:n.343-940_343-939insCC
ENST00000506466.5:c.190-940_190-939insCC	ENSP00000435571.1:n.190-940_190-939insCC
ENST00000515746.5:c.234+6336_234+6337insCC	ENSP00000422073.1:n.234+6336_234+6337insCC
ENST00000526245.1:n.67-940_67-939insCC
ENST00000526872.2:c.363+3495_363+3496insCC	ENSP00000474067.1:n.363+3495_363+3496insCC
ENST00000532032.5:c.388-940_388-939insCC	ENSP00000437157.1:n.388-940_388-939insCC
ENST00000545170.5:c.388-940_388-939insCC	ENSP00000445618.2:n.388-940_388-939insCC
ENST00000553287.5:n.114-940_114-939insCC
ENST00000553309.5:n.410-940_410-939insCC
ENST00000553488.5:c.*62-940_*62-939insCC	ENSP00000452461.1:n.*62-940_*62-939insCC
ENST00000553491.5:c.235-940_235-939insCC	ENSP00000451996.1:n.235-940_235-939insCC
ENST00000553498.5:n.257-940_257-939insCC
ENST00000553570.5:c.222+3495_222+3496insCC	ENSP00000451405.1:n.222+3495_222+3496insCC
ENST00000553686.5:n.257-940_257-939insCC
ENST00000554040.5:n.159-940_159-939insCC
ENST00000554214.5:n.159-940_159-939insCC
ENST00000554350.5:c.321-940_321-939insCC	ENSP00000451103.1:n.321-940_321-939insCC
ENST00000554491.5:n.410-940_410-939insCC
ENST00000554592.5:c.385-940_385-939insCC	ENSP00000451385.1:n.385-940_385-939insCC
ENST00000554672.5:c.94-940_94-939insCC	ENSP00000451417.1:n.94-940_94-939insCC
ENST00000554673.5:c.388-940_388-939insCC	ENSP00000452356.1:n.388-940_388-939insCC
ENST00000554994.5:c.387+3495_387+3496insCC	ENSP00000451771.1:n.387+3495_387+3496insCC
ENST00000555381.5:c.178-940_178-939insCC	ENSP00000451001.1:n.178-940_178-939insCC
ENST00000555816.5:c.*62-940_*62-939insCC	ENSP00000451910.1:n.*62-940_*62-939insCC
ENST00000555958.5:n.245-940_245-939insCC
ENST00000556082.5:c.*62-940_*62-939insCC	ENSP00000450492.1:n.*62-940_*62-939insCC
ENST00000556220.5:c.70-940_70-939insCC	ENSP00000450641.1:n.70-940_70-939insCC
ENST00000556274.5:c.*62-940_*62-939insCC	ENSP00000451733.1:n.*62-940_*62-939insCC
ENST00000556288.5:c.*62-940_*62-939insCC	ENSP00000450566.1:n.*62-940_*62-939insCC
ENST00000556315.5:c.*62-940_*62-939insCC	ENSP00000451132.1:n.*62-940_*62-939insCC
ENST00000556339.5:n.409+3495_409+3496insCC
ENST00000556374.5:c.*62-940_*62-939insCC	ENSP00000451399.1:n.*62-940_*62-939insCC
ENST00000556644.5:n.256+6336_256+6337insCC
ENST00000556671.5:c.235-940_235-939insCC	ENSP00000451693.1:n.235-940_235-939insCC
ENST00000556898.5:c.388-940_388-939insCC	ENSP00000451769.1:n.388-940_388-939insCC
ENST00000556958.5:c.234+6336_234+6337insCC	ENSP00000452532.1:n.234+6336_234+6337insCC
ENST00000557030.5:c.190-940_190-939insCC	ENSP00000452139.1:n.190-940_190-939insCC
ENST00000557311.5:c.-62-6499_-62-6498insCC	ENSP00000450642.1:n.-62-6499_-62-6498insCC
ENST00000558190.5:c.388-940_388-939insCC	ENSP00000478320.1:n.388-940_388-939insCC
ENST00000617719.4:c.388-940_388-939insCC	ENSP00000481998.1:n.388-940_388-939insCC
ENST00000620536.4:c.388-940_388-939insCC	ENSP00000484016.1:n.388-940_388-939insCC
ENST00000621269.4:c.388-940_388-939insCC	ENSP00000481390.1:n.388-940_388-939insCC
NM_001127696.1:c.343-940_343-939insCC	NP_001121168.1:n.343-940_343-939insCC
NM_001127697.2:c.235-940_235-939insCC	NP_001121169.2:n.235-940_235-939insCC
NM_001164774.1:c.189+6917_189+6918insCC	NP_001158246.1:n.189+6917_189+6918insCC
NM_001164776.1:c.234+6336_234+6337insCC	NP_001158248.1:n.234+6336_234+6337insCC
NM_001164777.1:c.69+6336_69+6337insCC	NP_001158249.1:n.69+6336_69+6337insCC
NM_001164778.1:c.387+3495_387+3496insCC	NP_001158250.1:n.387+3495_387+3496insCC
NM_001164779.1:c.25-940_25-939insCC	NP_001158251.1:n.25-940_25-939insCC
NM_001164780.1:c.-150-940_-150-939insCC	NP_001158252.1:n.-150-940_-150-939insCC
NM_001164781.1:c.178-940_178-939insCC	NP_001158253.1:n.178-940_178-939insCC
NM_001164782.1:c.24+16772_24+16773insCC	NP_001158254.1:n.24+16772_24+16773insCC
NM_004993.5:c.388-940_388-939insCC	NP_004984.2:n.388-940_388-939insCC
NM_030660.4:c.223-940_223-939insCC	NP_109376.1:n.223-940_223-939insCC
NR_028453.1:n.371-940_371-939insCC
NR_028454.1:n.206-940_206-939insCC
NR_028455.1:n.371-940_371-939insCC
NR_028456.1:n.206-940_206-939insCC
NR_028457.1:n.371-940_371-939insCC
NR_028458.1:n.371-940_371-939insCC
NR_028459.1:n.457-940_457-939insCC
NR_028460.1:n.370+3495_370+3496insCC
NR_028461.1:n.456+3495_456+3496insCC
NR_028462.1:n.371-940_371-939insCC
NR_028463.1:n.94-6499_94-6498insCC
NR_028464.1:n.304-940_304-939insCC
NR_028465.1:n.326-940_326-939insCC
NR_028466.1:n.94-6499_94-6498insCC
NR_028467.1:n.304-940_304-939insCC
NR_028468.1:n.371-940_371-939insCC
NR_028469.1:n.206-940_206-939insCC
NR_028470.1:n.160+3495_160+3496insCC
NR_031765.1:n.94-7291_94-7290insCC
NM_001127696.2:c.343-940_343-939insCC	NP_001121168.1:n.343-940_343-939insCC
NM_001164774.2:c.189+6917_189+6918insCC	NP_001158246.1:n.189+6917_189+6918insCC
NM_001164776.2:c.234+6336_234+6337insCC	NP_001158248.1:n.234+6336_234+6337insCC
NM_001164777.2:c.69+6336_69+6337insCC	NP_001158249.1:n.69+6336_69+6337insCC
NM_001164778.2:c.387+3495_387+3496insCC	NP_001158250.1:n.387+3495_387+3496insCC
NM_001164779.2:c.25-940_25-939insCC	NP_001158251.1:n.25-940_25-939insCC
NM_001164780.2:c.-150-940_-150-939insCC	NP_001158252.1:n.-150-940_-150-939insCC
NM_001164782.2:c.24+16772_24+16773insCC	NP_001158254.1:n.24+16772_24+16773insCC
NM_004993.6:c.388-940_388-939insCC MANE Select	NP_004984.2:n.388-940_388-939insCC
NM_030660.5:c.223-940_223-939insCC	NP_109376.1:n.223-940_223-939insCC
NR_028453.2:n.332-940_332-939insCC
NR_028454.2:n.167-940_167-939insCC
NR_028455.2:n.332-940_332-939insCC
NR_028456.2:n.167-940_167-939insCC
NR_028457.2:n.332-940_332-939insCC
NR_028458.2:n.332-940_332-939insCC
NR_028459.2:n.418-940_418-939insCC
NR_028460.2:n.331+3495_331+3496insCC
NR_028461.2:n.417+3495_417+3496insCC
NR_028462.2:n.332-940_332-939insCC
NR_028463.2:n.55-6499_55-6498insCC
NR_028464.2:n.265-940_265-939insCC
NR_028465.2:n.287-940_287-939insCC
NR_028466.2:n.55-6499_55-6498insCC
NR_028467.2:n.265-940_265-939insCC
NR_028468.2:n.332-940_332-939insCC
NR_028469.2:n.167-940_167-939insCC
NR_028470.2:n.121+3495_121+3496insCC
NR_031765.2:n.55-7291_55-7290insCC
NM_001127697.3:c.235-940_235-939insCC	NP_001121169.2:n.235-940_235-939insCC
NM_001164781.2:c.178-940_178-939insCC	NP_001158253.1:n.178-940_178-939insCC