Canonical Allele Identifier: CA2632529079
Gene: ATXN2L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28835879_28835880insAA , CM000678.2:g.28835879_28835880insAA GRCh38
NC_000016.9:g.28847200_28847201insAA , CM000678.1:g.28847200_28847201insAA GRCh37
NC_000016.8:g.28754701_28754702insAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336783.9:c.2896-54_2896-53insAA MANE Select ENSP00000338718.4:n.2896-54_2896-53insAA
ENST00000325215.10:c.2896-54_2896-53insAA ENSP00000315650.6:n.2896-54_2896-53insAA
ENST00000336783.8:c.2896-54_2896-53insAA ENSP00000338718.4:n.2896-54_2896-53insAA
ENST00000340394.12:c.2896-54_2896-53insAA ENSP00000341459.8:n.2896-54_2896-53insAA
ENST00000382686.8:c.2896-54_2896-53insAA ENSP00000372133.4:n.2896-54_2896-53insAA
ENST00000395547.6:c.2896-54_2896-53insAA ENSP00000378917.2:n.2896-54_2896-53insAA
ENST00000562583.5:c.871-54_871-53insAA ENSP00000456162.2:n.871-54_871-53insAA
ENST00000563314.5:n.3270-54_3270-53insAA
ENST00000564162.1:c.91-54_91-53insAA ENSP00000455427.1:n.91-54_91-53insAA
ENST00000564304.5:c.2914-54_2914-53insAA ENSP00000457613.1:n.2914-54_2914-53insAA
ENST00000565971.5:c.1960-54_1960-53insAA ENSP00000457599.1:n.1960-54_1960-53insAA
ENST00000566007.5:c.165-54_165-53insAA
ENST00000566946.5:c.874-54_874-53insAA ENSP00000454757.1:n.874-54_874-53insAA
ENST00000569318.1:c.416-54_416-53insAA
ENST00000570200.5:c.2896-54_2896-53insAA ENSP00000454516.1:n.2896-54_2896-53insAA
NM_001308230.1:c.2914-54_2914-53insAA NP_001295159.1:n.2914-54_2914-53insAA
NM_007245.3:c.2896-54_2896-53insAA NP_009176.2:n.2896-54_2896-53insAA
NM_017492.3:c.2896-54_2896-53insAA NP_059867.3:n.2896-54_2896-53insAA
NM_145714.2:c.2896-54_2896-53insAA NP_663760.1:n.2896-54_2896-53insAA
NM_148414.2:c.2896-54_2896-53insAA NP_680780.1:n.2896-54_2896-53insAA
NM_148415.2:c.2896-54_2896-53insAA NP_680781.1:n.2896-54_2896-53insAA
NM_148416.2:c.2896-54_2896-53insAA NP_680782.1:n.2896-54_2896-53insAA
XM_005255061.1:c.2917-54_2917-53insAA XP_005255118.1:n.2917-54_2917-53insAA
XM_005255062.1:c.2917-54_2917-53insAA XP_005255119.1:n.2917-54_2917-53insAA
XM_005255063.2:c.2917-54_2917-53insAA XP_005255120.1:n.2917-54_2917-53insAA
XM_005255064.1:c.2914-54_2914-53insAA XP_005255121.1:n.2914-54_2914-53insAA
XM_005255065.1:c.2899-54_2899-53insAA XP_005255122.1:n.2899-54_2899-53insAA
XM_005255066.1:c.2896-54_2896-53insAA XP_005255123.1:n.2896-54_2896-53insAA
XM_005255067.1:c.2917-54_2917-53insAA XP_005255124.1:n.2917-54_2917-53insAA
XM_005255068.1:c.2917-54_2917-53insAA XP_005255125.1:n.2917-54_2917-53insAA
XM_005255069.1:c.2917-54_2917-53insAA XP_005255126.1:n.2917-54_2917-53insAA
XM_005255070.1:c.2917-54_2917-53insAA XP_005255127.1:n.2917-54_2917-53insAA
XM_005255071.1:c.2917-54_2917-53insAA XP_005255128.1:n.2917-54_2917-53insAA
XM_005255074.1:c.2917-54_2917-53insAA XP_005255131.1:n.2917-54_2917-53insAA
XM_005255075.1:c.2917-54_2917-53insAA XP_005255132.1:n.2917-54_2917-53insAA
XM_005255076.1:c.2914-54_2914-53insAA XP_005255133.1:n.2914-54_2914-53insAA
XM_005255077.1:c.2737-54_2737-53insAA XP_005255134.1:n.2737-54_2737-53insAA
XM_006721007.1:c.2845-54_2845-53insAA XP_006721070.1:n.2845-54_2845-53insAA
XM_006721008.1:c.2827-54_2827-53insAA XP_006721071.1:n.2827-54_2827-53insAA
XM_006721009.1:c.2917-54_2917-53insAA XP_006721072.1:n.2917-54_2917-53insAA
XM_006721010.2:c.2917-54_2917-53insAA XP_006721073.1:n.2917-54_2917-53insAA
XM_006721011.1:c.2917-54_2917-53insAA XP_006721074.1:n.2917-54_2917-53insAA
XM_006721012.2:c.2917-54_2917-53insAA XP_006721075.1:n.2917-54_2917-53insAA
XM_006721013.2:c.2917-54_2917-53insAA XP_006721076.1:n.2917-54_2917-53insAA
XM_011545719.1:c.2917-54_2917-53insAA XP_011544021.1:n.2917-54_2917-53insAA
XM_011545720.1:c.2917-54_2917-53insAA XP_011544022.1:n.2917-54_2917-53insAA
XM_011545721.1:c.2917-54_2917-53insAA XP_011544023.1:n.2917-54_2917-53insAA
XM_011545722.1:c.2551-54_2551-53insAA XP_011544024.1:n.2551-54_2551-53insAA
XR_243256.1:n.3126-54_3126-53insAA
XM_005255063.4:c.2917-54_2917-53insAA XP_005255120.1:n.2917-54_2917-53insAA
XM_006721012.4:c.2917-54_2917-53insAA XP_006721075.1:n.2917-54_2917-53insAA
XM_011545719.2:c.2917-54_2917-53insAA XP_011544021.1:n.2917-54_2917-53insAA
XM_017022891.1:c.2719-54_2719-53insAA XP_016878380.1:n.2719-54_2719-53insAA
XM_017022892.1:c.2533-54_2533-53insAA XP_016878381.1:n.2533-54_2533-53insAA
XR_001751820.1:n.3129-54_3129-53insAA
NM_001308230.2:c.2914-54_2914-53insAA NP_001295159.1:n.2914-54_2914-53insAA
NM_001387166.1:c.2914-54_2914-53insAA NP_001374095.1:n.2914-54_2914-53insAA
NM_001387167.1:c.2896-54_2896-53insAA NP_001374096.1:n.2896-54_2896-53insAA
NM_001387168.1:c.2896-54_2896-53insAA NP_001374097.1:n.2896-54_2896-53insAA
NM_001387169.1:c.2914-54_2914-53insAA NP_001374098.1:n.2914-54_2914-53insAA
NM_001387170.1:c.2914-54_2914-53insAA NP_001374099.1:n.2914-54_2914-53insAA
NM_001387171.1:c.2917-54_2917-53insAA NP_001374100.1:n.2917-54_2917-53insAA
NM_001387172.1:c.2914-54_2914-53insAA NP_001374101.1:n.2914-54_2914-53insAA
NM_001387173.1:c.2899-54_2899-53insAA NP_001374102.1:n.2899-54_2899-53insAA
NM_001387174.1:c.2896-54_2896-53insAA NP_001374103.1:n.2896-54_2896-53insAA
NM_001387175.1:c.2896-54_2896-53insAA NP_001374104.1:n.2896-54_2896-53insAA
NM_001387176.1:c.2896-54_2896-53insAA NP_001374105.1:n.2896-54_2896-53insAA
NM_001387177.1:c.2896-54_2896-53insAA NP_001374106.1:n.2896-54_2896-53insAA
NM_001387178.1:c.2899-54_2899-53insAA NP_001374107.1:n.2899-54_2899-53insAA
NM_001387179.1:c.2824-54_2824-53insAA NP_001374108.1:n.2824-54_2824-53insAA
NM_001387180.1:c.2890-54_2890-53insAA NP_001374109.1:n.2890-54_2890-53insAA
NM_001387181.1:c.2917-54_2917-53insAA NP_001374110.1:n.2917-54_2917-53insAA
NM_001387182.1:c.2914-54_2914-53insAA NP_001374111.1:n.2914-54_2914-53insAA
NM_001387183.1:c.2899-54_2899-53insAA NP_001374112.1:n.2899-54_2899-53insAA
NM_001387184.1:c.2899-54_2899-53insAA NP_001374113.1:n.2899-54_2899-53insAA
NM_001387185.1:c.2824-54_2824-53insAA NP_001374114.1:n.2824-54_2824-53insAA
NM_001387186.1:c.2827-54_2827-53insAA NP_001374115.1:n.2827-54_2827-53insAA
NM_001387187.1:c.2827-54_2827-53insAA NP_001374116.1:n.2827-54_2827-53insAA
NM_001387188.1:c.2824-54_2824-53insAA NP_001374117.1:n.2824-54_2824-53insAA
NM_001387189.1:c.2914-54_2914-53insAA NP_001374118.1:n.2914-54_2914-53insAA
NM_001387190.1:c.2914-54_2914-53insAA NP_001374119.1:n.2914-54_2914-53insAA
NM_001387191.1:c.2899-54_2899-53insAA NP_001374120.1:n.2899-54_2899-53insAA
NM_001387192.1:c.2899-54_2899-53insAA NP_001374121.1:n.2899-54_2899-53insAA
NM_001387193.1:c.2914-54_2914-53insAA NP_001374122.1:n.2914-54_2914-53insAA
NM_001387194.1:c.2899-54_2899-53insAA NP_001374123.1:n.2899-54_2899-53insAA
NM_001387195.1:c.2896-54_2896-53insAA NP_001374124.1:n.2896-54_2896-53insAA
NM_001387196.1:c.2896-54_2896-53insAA NP_001374125.1:n.2896-54_2896-53insAA
NM_001387197.1:c.2842-54_2842-53insAA NP_001374126.1:n.2842-54_2842-53insAA
NM_001387198.1:c.2896-54_2896-53insAA NP_001374127.1:n.2896-54_2896-53insAA
NM_001387199.1:c.2827-54_2827-53insAA NP_001374128.1:n.2827-54_2827-53insAA
NM_001387200.1:c.2842-54_2842-53insAA NP_001374129.1:n.2842-54_2842-53insAA
NM_001387202.1:c.2824-54_2824-53insAA NP_001374131.1:n.2824-54_2824-53insAA
NM_001387203.1:c.2707-54_2707-53insAA NP_001374132.1:n.2707-54_2707-53insAA
NM_001387204.1:c.2895+121_2895+122insAA NP_001374133.1:n.2895+121_2895+122insAA
NM_007245.4:c.2896-54_2896-53insAA MANE Select NP_009176.2:n.2896-54_2896-53insAA
NM_017492.4:c.2896-54_2896-53insAA NP_059867.3:n.2896-54_2896-53insAA
NM_145714.3:c.2896-54_2896-53insAA NP_663760.1:n.2896-54_2896-53insAA
NM_148414.3:c.2896-54_2896-53insAA NP_680780.1:n.2896-54_2896-53insAA
NM_148415.3:c.2896-54_2896-53insAA NP_680781.1:n.2896-54_2896-53insAA
NM_148416.3:c.2896-54_2896-53insAA NP_680782.1:n.2896-54_2896-53insAA