Linked Data
dbSNP Id:
rs1224463210
gnomAD v3:
13-77001114-TCTCAGGA-T
gnomAD v4:
13-77001114-TCTCAGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77001118_77001124del , CM000675.2:g.77001118_77001124del | GRCh38 |
| NC_000013.10:g.77575253_77575259del , CM000675.1:g.77575253_77575259del | GRCh37 |
| NC_000013.9:g.76473254_76473260del | NCBI36 |
| NG_009064.1:g.14195_14201del , LRG_692:g.14195_14201del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.*149_*155del (CLN5) MANE Select | ENSP00000366673.5:n.*149_*155del | |
| ENST00000616833.6:c.*668_*674del (CLN5) | ENSP00000479547.3:n.*668_*674del | |
| ENST00000635838.1:c.174+4991_174+4997del | ||
| ENST00000635905.1:n.566+4991_566+4997del (CLN5) | ||
| ENST00000635915.1:c.1224_1230del (CLN5) | ||
| ENST00000636183.2:c.*149_*155del (CLN5) | ENSP00000490181.2:n.*149_*155del | |
| ENST00000636525.2:c.565+4991_565+4997del (CLN5) | ENSP00000490078.2:n.565+4991_565+4997del | |
| ENST00000636681.1:c.*917_*923del (CLN5) | ENSP00000489922.1:n.*917_*923del | |
| ENST00000636705.1:c.1062_1068del (CLN5) | ||
| ENST00000636767.2:c.565+4991_565+4997del (CLN5) | ENSP00000489855.2:n.565+4991_565+4997del | |
| ENST00000636780.2:c.*675_*681del (CLN5) | ENSP00000489809.2:n.*675_*681del | |
| ENST00000637192.1:c.213+4991_213+4997del | ||
| ENST00000637278.1:n.1552_1558del (CLN5) | ||
| ENST00000637397.2:c.565+4991_565+4997del (CLN5) | ENSP00000490422.2:n.565+4991_565+4997del | |
| ENST00000638101.1:c.169+4991_169+4997del | ENSP00000490535.1:n.169+4991_169+4997del | |
| ENST00000638147.2:c.565+4991_565+4997del | ENSP00000490953.2:n.565+4991_565+4997del | |
| ENST00000377453.7:c.*149_*155del (CLN5) | ENSP00000366673.3:n.*149_*155del | |
| ENST00000477982.2:n.1188_1194del (FBXL3) | ||
| ENST00000485797.2:n.174-8170_174-8164del (FBXL3) | ||
| ENST00000616833.4:c.*149_*155del (CLN5) | ENSP00000479547.1:n.*149_*155del | |
| NM_006493.2:c.*149_*155del , LRG_692t1:c.*149_*155del (CLN5) | NP_006484.1:n.*149_*155del | |
| NM_001366624.1:c.*675_*681del (CLN5) | NP_001353553.1:n.*675_*681del | |
| NM_006493.3:c.*149_*155del (CLN5) | NP_006484.2:n.*149_*155del | |
| XM_017020538.2:c.644-8170_644-8164del (FBXL3) | XP_016876027.1:n.644-8170_644-8164del | |
| NM_001366624.2:c.*675_*681del (CLN5) | NP_001353553.1:n.*675_*681del | |
| NM_006493.4:c.*149_*155del (CLN5) MANE Select | NP_006484.2:n.*149_*155del |