Canonical Allele Identifier: CA2806421859
Gene: ATXN2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28836240_28836248del , CM000678.2:g.28836240_28836248del GRCh38
NC_000016.9:g.28847561_28847569del , CM000678.1:g.28847561_28847569del GRCh37
NC_000016.8:g.28755062_28755070del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336783.9:c.3203_3211del MANE Select ENSP00000338718.4:p.Asp1068_Arg1070del
ENST00000325215.10:c.3139+64_3139+72del ENSP00000315650.6:n.3139+64_3139+72del
ENST00000336783.8:c.3203_3211del ENSP00000338718.4:p.Asp1068_Arg1070del
ENST00000340394.12:c.3085+118_3085+126del ENSP00000341459.8:n.3085+118_3085+126del
ENST00000382686.8:c.3085+118_3085+126del ENSP00000372133.4:n.3085+118_3085+126del
ENST00000395547.6:c.3139+64_3139+72del ENSP00000378917.2:n.3139+64_3139+72del
ENST00000562583.5:c.1178_1186del ENSP00000456162.2:p.Asp393_Arg395del
ENST00000563314.5:n.3577_3585del
ENST00000564162.1:c.280+118_280+126del ENSP00000455427.1:n.280+118_280+126del
ENST00000564304.5:c.3157+64_3157+72del ENSP00000457613.1:n.3157+64_3157+72del
ENST00000565971.5:c.2267_2275del ENSP00000457599.1:n.2267_2275del
ENST00000566007.5:c.354+118_354+126del
ENST00000566946.5:c.1181_1189del ENSP00000454757.1:p.Asp394_Arg396del
ENST00000570200.5:c.3139+64_3139+72del ENSP00000454516.1:n.3139+64_3139+72del
NM_001308230.1:c.3157+64_3157+72del NP_001295159.1:n.3157+64_3157+72del
NM_007245.3:c.3203_3211del NP_009176.2:p.Asp1068_Arg1070del
NM_017492.3:c.3139+64_3139+72del NP_059867.3:n.3139+64_3139+72del
NM_145714.2:c.3139+64_3139+72del NP_663760.1:n.3139+64_3139+72del
NM_148414.2:c.3139+64_3139+72del NP_680780.1:n.3139+64_3139+72del
NM_148415.2:c.3085+118_3085+126del NP_680781.1:n.3085+118_3085+126del
NM_148416.2:c.3085+118_3085+126del NP_680782.1:n.3085+118_3085+126del
XM_005255061.1:c.3160+64_3160+72del XP_005255118.1:n.3160+64_3160+72del
XM_005255062.1:c.3160+64_3160+72del XP_005255119.1:n.3160+64_3160+72del
XM_005255063.2:c.3160+64_3160+72del XP_005255120.1:n.3160+64_3160+72del
XM_005255064.1:c.3157+64_3157+72del XP_005255121.1:n.3157+64_3157+72del
XM_005255065.1:c.3142+64_3142+72del XP_005255122.1:n.3142+64_3142+72del
XM_005255066.1:c.3139+64_3139+72del XP_005255123.1:n.3139+64_3139+72del
XM_005255067.1:c.3107-86_3107-78del XP_005255124.1:n.3107-86_3107-78del
XM_005255068.1:c.3107-86_3107-78del XP_005255125.1:n.3107-86_3107-78del
XM_005255069.1:c.3224_3232del XP_005255126.1:p.Asp1075_Arg1077del
XM_005255070.1:c.3160+64_3160+72del XP_005255127.1:n.3160+64_3160+72del
XM_005255071.1:c.3160+64_3160+72del XP_005255128.1:n.3160+64_3160+72del
XM_005255074.1:c.3106+118_3106+126del XP_005255131.1:n.3106+118_3106+126del
XM_005255075.1:c.3106+118_3106+126del XP_005255132.1:n.3106+118_3106+126del
XM_005255076.1:c.3103+118_3103+126del XP_005255133.1:n.3103+118_3103+126del
XM_005255077.1:c.2980+64_2980+72del XP_005255134.1:n.2980+64_2980+72del
XM_006721007.1:c.3088+64_3088+72del XP_006721070.1:n.3088+64_3088+72del
XM_006721008.1:c.3070+64_3070+72del XP_006721071.1:n.3070+64_3070+72del
XM_006721009.1:c.3160+64_3160+72del XP_006721072.1:n.3160+64_3160+72del
XM_006721010.2:c.3160+64_3160+72del XP_006721073.1:n.3160+64_3160+72del
XM_006721011.1:c.3106+118_3106+126del XP_006721074.1:n.3106+118_3106+126del
XM_006721012.2:c.3106+118_3106+126del XP_006721075.1:n.3106+118_3106+126del
XM_006721013.2:c.3106+118_3106+126del XP_006721076.1:n.3106+118_3106+126del
XM_011545719.1:c.3160+64_3160+72del XP_011544021.1:n.3160+64_3160+72del
XM_011545720.1:c.3160+64_3160+72del XP_011544022.1:n.3160+64_3160+72del
XM_011545721.1:c.3106+118_3106+126del XP_011544023.1:n.3106+118_3106+126del
XM_011545722.1:c.2794+64_2794+72del XP_011544024.1:n.2794+64_2794+72del
XR_243256.1:n.3433_3441del
XM_005255063.4:c.3160+64_3160+72del XP_005255120.1:n.3160+64_3160+72del
XM_006721012.4:c.3106+118_3106+126del XP_006721075.1:n.3106+118_3106+126del
XM_011545719.2:c.3160+64_3160+72del XP_011544021.1:n.3160+64_3160+72del
XM_017022891.1:c.2962+64_2962+72del XP_016878380.1:n.2962+64_2962+72del
XM_017022892.1:c.2776+64_2776+72del XP_016878381.1:n.2776+64_2776+72del
XR_001751820.1:n.3436_3444del
NM_001308230.2:c.3157+64_3157+72del NP_001295159.1:n.3157+64_3157+72del
NM_001387166.1:c.3157+64_3157+72del NP_001374095.1:n.3157+64_3157+72del
NM_001387167.1:c.3139+64_3139+72del NP_001374096.1:n.3139+64_3139+72del
NM_001387168.1:c.3139+64_3139+72del NP_001374097.1:n.3139+64_3139+72del
NM_001387169.1:c.3104-86_3104-78del NP_001374098.1:n.3104-86_3104-78del
NM_001387170.1:c.3104-86_3104-78del NP_001374099.1:n.3104-86_3104-78del
NM_001387171.1:c.3224_3232del NP_001374100.1:p.Asp1075_Arg1077del
NM_001387172.1:c.3221_3229del NP_001374101.1:p.Asp1074_Arg1076del
NM_001387173.1:c.3089-86_3089-78del NP_001374102.1:n.3089-86_3089-78del
NM_001387174.1:c.3086-86_3086-78del NP_001374103.1:n.3086-86_3086-78del
NM_001387175.1:c.3086-86_3086-78del NP_001374104.1:n.3086-86_3086-78del
NM_001387176.1:c.3086-86_3086-78del NP_001374105.1:n.3086-86_3086-78del
NM_001387177.1:c.3086-86_3086-78del NP_001374106.1:n.3086-86_3086-78del
NM_001387178.1:c.3206_3214del NP_001374107.1:p.Asp1069_Arg1071del
NM_001387179.1:c.3067+64_3067+72del NP_001374108.1:n.3067+64_3067+72del
NM_001387180.1:c.3197_3205del NP_001374109.1:p.Asp1066_Arg1068del
NM_001387181.1:c.3160+64_3160+72del NP_001374110.1:n.3160+64_3160+72del
NM_001387182.1:c.3157+64_3157+72del NP_001374111.1:n.3157+64_3157+72del
NM_001387183.1:c.3142+64_3142+72del NP_001374112.1:n.3142+64_3142+72del
NM_001387184.1:c.3142+64_3142+72del NP_001374113.1:n.3142+64_3142+72del
NM_001387185.1:c.3014-86_3014-78del NP_001374114.1:n.3014-86_3014-78del
NM_001387186.1:c.3134_3142del NP_001374115.1:p.Asp1045_Arg1047del
NM_001387187.1:c.3134_3142del NP_001374116.1:p.Asp1045_Arg1047del
NM_001387188.1:c.3131_3139del NP_001374117.1:p.Asp1044_Arg1046del
NM_001387189.1:c.3103+118_3103+126del NP_001374118.1:n.3103+118_3103+126del
NM_001387190.1:c.3103+118_3103+126del NP_001374119.1:n.3103+118_3103+126del
NM_001387191.1:c.3088+118_3088+126del NP_001374120.1:n.3088+118_3088+126del
NM_001387192.1:c.3088+118_3088+126del NP_001374121.1:n.3088+118_3088+126del
NM_001387193.1:c.3103+118_3103+126del NP_001374122.1:n.3103+118_3103+126del
NM_001387194.1:c.3088+118_3088+126del NP_001374123.1:n.3088+118_3088+126del
NM_001387195.1:c.3085+118_3085+126del NP_001374124.1:n.3085+118_3085+126del
NM_001387196.1:c.3085+118_3085+126del NP_001374125.1:n.3085+118_3085+126del
NM_001387197.1:c.3085+64_3085+72del NP_001374126.1:n.3085+64_3085+72del
NM_001387198.1:c.3085+118_3085+126del NP_001374127.1:n.3085+118_3085+126del
NM_001387199.1:c.3016+118_3016+126del NP_001374128.1:n.3016+118_3016+126del
NM_001387200.1:c.3031+118_3031+126del NP_001374129.1:n.3031+118_3031+126del
NM_001387202.1:c.3013+118_3013+126del NP_001374131.1:n.3013+118_3013+126del
NM_001387203.1:c.3014_3022del NP_001374132.1:p.Asp1005_Arg1007del
NM_001387204.1:c.2949+64_2949+72del NP_001374133.1:n.2949+64_2949+72del
NM_007245.4:c.3203_3211del MANE Select NP_009176.2:p.Asp1068_Arg1070del
NM_017492.4:c.3139+64_3139+72del NP_059867.3:n.3139+64_3139+72del
NM_145714.3:c.3139+64_3139+72del NP_663760.1:n.3139+64_3139+72del
NM_148414.3:c.3139+64_3139+72del NP_680780.1:n.3139+64_3139+72del
NM_148415.3:c.3085+118_3085+126del NP_680781.1:n.3085+118_3085+126del
NM_148416.3:c.3085+118_3085+126del NP_680782.1:n.3085+118_3085+126del