Linked Data
ClinVar Variation Id:
56528
dbSNP Id:
rs386833966
gnomAD v2:
13-77574958-AT-A
gnomAD v3:
13-77000823-AT-A
gnomAD v4:
13-77000823-AT-A
MyVariant Identifiers:
chr13:g.77574963del (hg19)
chr13:g.77574959del (hg19)
chr13:g.77000828del (hg38)
chr13:g.77000824del (hg38)
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000828del , CM000675.2:g.77000828del | GRCh38 |
| NC_000013.10:g.77574963del , CM000675.1:g.77574963del | GRCh37 |
| NC_000013.9:g.76472964del | NCBI36 |
| NG_009064.1:g.13905del , LRG_692:g.13905del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.936del (CLN5) MANE Select | ENSP00000366673.5:p.Phe312LeufsTer4 | |
| ENST00000616833.6:c.*378del (CLN5) | ENSP00000479547.3:n.*378del | |
| ENST00000635838.1:c.174+4701del | ||
| ENST00000635905.1:n.566+4701del (CLN5) | ||
| ENST00000635915.1:c.934del (CLN5) | ||
| ENST00000636183.2:c.936del (CLN5) | ENSP00000490181.2:p.Phe312LeufsTer4 | |
| ENST00000636525.2:c.565+4701del (CLN5) | ENSP00000490078.2:n.565+4701del | |
| ENST00000636681.1:c.*627del (CLN5) | ENSP00000489922.1:n.*627del | |
| ENST00000636705.1:c.772del (CLN5) | ||
| ENST00000636767.2:c.565+4701del (CLN5) | ENSP00000489855.2:n.565+4701del | |
| ENST00000636780.2:c.*385del (CLN5) | ENSP00000489809.2:n.*385del | |
| ENST00000637192.1:c.213+4701del | ||
| ENST00000637278.1:n.1262del (CLN5) | ||
| ENST00000637397.2:c.565+4701del (CLN5) | ENSP00000490422.2:n.565+4701del | |
| ENST00000638101.1:c.169+4701del | ENSP00000490535.1:n.169+4701del | |
| ENST00000638147.2:c.565+4701del | ENSP00000490953.2:n.565+4701del | |
| ENST00000377453.7:c.1083del (CLN5) | ENSP00000366673.3:p.Phe361LeufsTer4 | |
| ENST00000477982.2:n.1485del (FBXL3) | ||
| ENST00000485797.2:n.174-7873del (FBXL3) | ||
| ENST00000616833.4:c.936del (CLN5) | ENSP00000479547.1:p.Phe312LeufsTer4 | |
| NM_006493.2:c.1083del , LRG_692t1:c.1083del (CLN5) | NP_006484.1:p.Phe361LeufsTer4 | |
| NM_001366624.1:c.*385del (CLN5) | NP_001353553.1:n.*385del | |
| NM_006493.3:c.936del (CLN5) | NP_006484.2:p.Phe312LeufsTer4 | |
| XM_017020538.2:c.644-7873del (FBXL3) | XP_016876027.1:n.644-7873del | |
| NM_001366624.2:c.*385del (CLN5) | NP_001353553.1:n.*385del | |
| NM_006493.4:c.936del (CLN5) MANE Select | NP_006484.2:p.Phe312LeufsTer4 |