Linked Data
ClinVar Variation Id:
56543
dbSNP Id:
rs386833979
ExAC:
13:77570218 A / AC
gnomAD v2:
13-77570218-A-AC
gnomAD v4:
13-76996083-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76996084dup , CM000675.2:g.76996084dup | GRCh38 |
| NC_000013.10:g.77570219dup , CM000675.1:g.77570219dup | GRCh37 |
| NC_000013.9:g.76468220dup | NCBI36 |
| NG_009064.1:g.9161dup , LRG_692:g.9161dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.522dup (CLN5) MANE Select | ENSP00000366673.5:p.Trp175LeufsTer30 | |
| ENST00000485938.4:c.522dup (CLN5) | ENSP00000482959.3:p.Trp175LeufsTer16 | |
| ENST00000616833.6:c.522dup (CLN5) | ENSP00000479547.3:p.Trp175LeufsTer28 | |
| ENST00000635838.1:c.131dup | ||
| ENST00000635905.1:n.523dup (CLN5) | ||
| ENST00000635915.1:c.520dup (CLN5) | ||
| ENST00000635989.1:n.589dup (CLN5) | ||
| ENST00000636183.2:c.522dup (CLN5) | ENSP00000490181.2:p.Trp175LeufsTer30 | |
| ENST00000636520.1:n.2034dup (CLN5) | ||
| ENST00000636525.2:c.522dup (CLN5) | ENSP00000490078.2:p.Trp175LeufsTer23 | |
| ENST00000636602.1:n.468dup (CLN5) | ||
| ENST00000636681.1:c.*213dup (CLN5) | ENSP00000489922.1:n.*213dup | |
| ENST00000636705.1:c.358dup (CLN5) | ||
| ENST00000636767.2:c.522dup (CLN5) | ENSP00000489855.2:p.Trp175LeufsTer23 | |
| ENST00000636780.2:c.522dup (CLN5) | ENSP00000489809.2:p.Trp175LeufsTer19 | |
| ENST00000637192.1:c.170dup | ||
| ENST00000637278.1:n.848dup (CLN5) | ||
| ENST00000637397.2:c.522dup (CLN5) | ENSP00000490422.2:p.Trp175LeufsTer23 | |
| ENST00000637537.2:c.522dup (CLN5) | ENSP00000489711.2:p.Trp175LeufsTer19 | |
| ENST00000638101.1:c.126dup | ENSP00000490535.1:p.Trp43LeufsTer20 | |
| ENST00000638147.2:c.522dup | ENSP00000490953.2:p.Trp175LeufsTer? | |
| ENST00000377453.7:c.669dup (CLN5) | ENSP00000366673.3:p.Trp224LeufsTer30 | |
| ENST00000485797.2:n.174-3133dup (FBXL3) | ||
| ENST00000485938.2:c.505dup (CLN5) | ||
| ENST00000616833.4:c.522dup (CLN5) | ENSP00000479547.1:p.Trp175LeufsTer30 | |
| NM_006493.2:c.669dup , LRG_692t1:c.669dup (CLN5) | NP_006484.1:p.Trp224LeufsTer30 | |
| XM_011534917.1:c.669dup (CLN5) | XP_011533219.1:p.Trp224LeufsTer19 | |
| NM_001366624.1:c.522dup (CLN5) | NP_001353553.1:p.Trp175LeufsTer19 | |
| NM_006493.3:c.522dup (CLN5) | NP_006484.2:p.Trp175LeufsTer30 | |
| XM_017020538.2:c.644-3133dup (FBXL3) | XP_016876027.1:n.644-3133dup | |
| NM_001366624.2:c.522dup (CLN5) | NP_001353553.1:p.Trp175LeufsTer19 | |
| NM_006493.4:c.522dup (CLN5) MANE Select | NP_006484.2:p.Trp175LeufsTer30 |