Linked Data
dbSNP Id:
rs755898602
ExAC:
13:77569162 TAGA / T
gnomAD v2:
13-77569162-TAGA-T
gnomAD v4:
13-76995027-TAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76995029_76995031del , CM000675.2:g.76995029_76995031del | GRCh38 |
| NC_000013.10:g.77569164_77569166del , CM000675.1:g.77569164_77569166del | GRCh37 |
| NC_000013.9:g.76467165_76467167del | NCBI36 |
| NG_009064.1:g.8106_8108del , LRG_692:g.8106_8108del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.174-34_174-32del (CLN5) MANE Select | ENSP00000366673.5:n.174-34_174-32del | |
| ENST00000485938.4:c.174-34_174-32del (CLN5) | ENSP00000482959.3:n.174-34_174-32del | |
| ENST00000616833.6:c.174-34_174-32del (CLN5) | ENSP00000479547.3:n.174-34_174-32del | |
| ENST00000635905.1:n.175-34_175-32del (CLN5) | ||
| ENST00000635915.1:c.113-34_113-32del (CLN5) | ||
| ENST00000635989.1:n.184-34_184-32del (CLN5) | ||
| ENST00000636183.2:c.174-34_174-32del (CLN5) | ENSP00000490181.2:n.174-34_174-32del | |
| ENST00000636520.1:n.979_981del (CLN5) | ||
| ENST00000636525.2:c.174-34_174-32del (CLN5) | ENSP00000490078.2:n.174-34_174-32del | |
| ENST00000636681.1:c.-82-34_-82-32del (CLN5) | ENSP00000489922.1:n.-82-34_-82-32del | |
| ENST00000636705.1:c.10-34_10-32del (CLN5) | ||
| ENST00000636767.2:c.174-34_174-32del (CLN5) | ENSP00000489855.2:n.174-34_174-32del | |
| ENST00000636780.2:c.174-34_174-32del (CLN5) | ENSP00000489809.2:n.174-34_174-32del | |
| ENST00000637397.2:c.174-34_174-32del (CLN5) | ENSP00000490422.2:n.174-34_174-32del | |
| ENST00000637537.2:c.174-34_174-32del (CLN5) | ENSP00000489711.2:n.174-34_174-32del | |
| ENST00000638147.2:c.174-34_174-32del | ENSP00000490953.2:n.174-34_174-32del | |
| ENST00000377453.7:c.321-34_321-32del (CLN5) | ENSP00000366673.3:n.321-34_321-32del | |
| ENST00000485797.2:n.174-2079_174-2077del (FBXL3) | ||
| ENST00000485938.2:c.157-34_157-32del (CLN5) | ||
| ENST00000616833.4:c.174-34_174-32del (CLN5) | ENSP00000479547.1:n.174-34_174-32del | |
| NM_006493.2:c.321-34_321-32del , LRG_692t1:c.321-34_321-32del (CLN5) | NP_006484.1:n.321-34_321-32del | |
| XM_011534917.1:c.321-34_321-32del (CLN5) | XP_011533219.1:n.321-34_321-32del | |
| NM_001366624.1:c.174-34_174-32del (CLN5) | NP_001353553.1:n.174-34_174-32del | |
| NM_006493.3:c.174-34_174-32del (CLN5) | NP_006484.2:n.174-34_174-32del | |
| XM_017020538.2:c.644-2079_644-2077del (FBXL3) | XP_016876027.1:n.644-2079_644-2077del | |
| NM_001366624.2:c.174-34_174-32del (CLN5) | NP_001353553.1:n.174-34_174-32del | |
| NM_006493.4:c.174-34_174-32del (CLN5) MANE Select | NP_006484.2:n.174-34_174-32del |