Canonical Allele Identifier: CA2632528961

Gene: ATXN2L

Linked Data

• gnomAD v4: 16-28835755-CCAGGTAAGAGCCCAGCTGTCCCACTTCTGGGTCTGTTTGCCAGGGCCCGTCTGCCATGGGGACCATCCCATTGCCAAGTCCCTGGTGCCACCCTTGCCATAGTGCTCCCTAACTCTGGCTCTCAGAGTCTGTTTCAGGATTCTGTGGTCTTCCCGGCTACTTTTTTGTTTTCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28835760_28835933del , CM000678.2:g.28835760_28835933del	GRCh38
NC_000016.9:g.28847081_28847254del , CM000678.1:g.28847081_28847254del	GRCh37
NC_000016.8:g.28754582_28754755del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336783.9:c.2895+2_2896del
ENST00000325215.10:c.2895+2_2896del
ENST00000336783.8:c.2895+2_2896del
ENST00000340394.12:c.2895+2_2896del
ENST00000382686.8:c.2895+2_2896del
ENST00000395547.6:c.2895+2_2896del
ENST00000562583.5:c.870+2_871del
ENST00000563314.5:n.3269+2_3270del
ENST00000564162.1:c.90+2_91del
ENST00000564304.5:c.2913+2_2914del
ENST00000565971.5:c.1959+2_1960del
ENST00000566007.5:c.164+2_165del
ENST00000566946.5:c.873+2_874del
ENST00000569318.1:c.415+2_416del
ENST00000570200.5:c.2895+2_2896del
NM_001308230.1:c.2913+2_2914del
NM_007245.3:c.2895+2_2896del
NM_017492.3:c.2895+2_2896del
NM_145714.2:c.2895+2_2896del
NM_148414.2:c.2895+2_2896del
NM_148415.2:c.2895+2_2896del
NM_148416.2:c.2895+2_2896del
XM_005255061.1:c.2916+2_2917del
XM_005255062.1:c.2916+2_2917del
XM_005255063.2:c.2916+2_2917del
XM_005255064.1:c.2913+2_2914del
XM_005255065.1:c.2898+2_2899del
XM_005255066.1:c.2895+2_2896del
XM_005255067.1:c.2916+2_2917del
XM_005255068.1:c.2916+2_2917del
XM_005255069.1:c.2916+2_2917del
XM_005255070.1:c.2916+2_2917del
XM_005255071.1:c.2916+2_2917del
XM_005255074.1:c.2916+2_2917del
XM_005255075.1:c.2916+2_2917del
XM_005255076.1:c.2913+2_2914del
XM_005255077.1:c.2736+2_2737del
XM_006721007.1:c.2844+2_2845del
XM_006721008.1:c.2826+2_2827del
XM_006721009.1:c.2916+2_2917del
XM_006721010.2:c.2916+2_2917del
XM_006721011.1:c.2916+2_2917del
XM_006721012.2:c.2916+2_2917del
XM_006721013.2:c.2916+2_2917del
XM_011545719.1:c.2916+2_2917del
XM_011545720.1:c.2916+2_2917del
XM_011545721.1:c.2916+2_2917del
XM_011545722.1:c.2550+2_2551del
XR_243256.1:n.3125+2_3126del
XM_005255063.4:c.2916+2_2917del
XM_006721012.4:c.2916+2_2917del
XM_011545719.2:c.2916+2_2917del
XM_017022891.1:c.2718+2_2719del
XM_017022892.1:c.2532+2_2533del
XR_001751820.1:n.3128+2_3129del
NM_001308230.2:c.2913+2_2914del
NM_001387166.1:c.2913+2_2914del
NM_001387167.1:c.2895+2_2896del
NM_001387168.1:c.2895+2_2896del
NM_001387169.1:c.2913+2_2914del
NM_001387170.1:c.2913+2_2914del
NM_001387171.1:c.2916+2_2917del
NM_001387172.1:c.2913+2_2914del
NM_001387173.1:c.2898+2_2899del
NM_001387174.1:c.2895+2_2896del
NM_001387175.1:c.2895+2_2896del
NM_001387176.1:c.2895+2_2896del
NM_001387177.1:c.2895+2_2896del
NM_001387178.1:c.2898+2_2899del
NM_001387179.1:c.2823+2_2824del
NM_001387180.1:c.2889+2_2890del
NM_001387181.1:c.2916+2_2917del
NM_001387182.1:c.2913+2_2914del
NM_001387183.1:c.2898+2_2899del
NM_001387184.1:c.2898+2_2899del
NM_001387185.1:c.2823+2_2824del
NM_001387186.1:c.2826+2_2827del
NM_001387187.1:c.2826+2_2827del
NM_001387188.1:c.2823+2_2824del
NM_001387189.1:c.2913+2_2914del
NM_001387190.1:c.2913+2_2914del
NM_001387191.1:c.2898+2_2899del
NM_001387192.1:c.2898+2_2899del
NM_001387193.1:c.2913+2_2914del
NM_001387194.1:c.2898+2_2899del
NM_001387195.1:c.2895+2_2896del
NM_001387196.1:c.2895+2_2896del
NM_001387197.1:c.2841+2_2842del
NM_001387198.1:c.2895+2_2896del
NM_001387199.1:c.2826+2_2827del
NM_001387200.1:c.2841+2_2842del
NM_001387202.1:c.2823+2_2824del
NM_001387203.1:c.2706+2_2707del
NM_001387204.1:c.2895+2_2895+175del
NM_007245.4:c.2895+2_2896del
NM_017492.4:c.2895+2_2896del
NM_145714.3:c.2895+2_2896del
NM_148414.3:c.2895+2_2896del
NM_148415.3:c.2895+2_2896del
NM_148416.3:c.2895+2_2896del