Linked Data
ClinVar Variation Id:
56547
dbSNP Id:
rs386833983
gnomAD v2:
13-77574829-TATCTGGGAAATGAAAC-T
gnomAD v3:
13-77000694-TATCTGGGAAATGAAAC-T
gnomAD v4:
13-77000694-TATCTGGGAAATGAAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000700_77000715del , CM000675.2:g.77000700_77000715del | GRCh38 |
| NC_000013.10:g.77574835_77574850del , CM000675.1:g.77574835_77574850del | GRCh37 |
| NC_000013.9:g.76472836_76472851del | NCBI36 |
| NG_009064.1:g.13777_13792del , LRG_692:g.13777_13792del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.808_823del (CLN5) MANE Select | ENSP00000366673.5:p.Gly270PhefsTer12 | |
| ENST00000616833.6:c.*250_*265del (CLN5) | ENSP00000479547.3:n.*250_*265del | |
| ENST00000635838.1:c.174+4573_174+4588del | ||
| ENST00000635905.1:n.566+4573_566+4588del (CLN5) | ||
| ENST00000635915.1:c.806_821del (CLN5) | ||
| ENST00000636183.2:c.808_823del (CLN5) | ENSP00000490181.2:p.Gly270PhefsTer12 | |
| ENST00000636525.2:c.565+4573_565+4588del (CLN5) | ENSP00000490078.2:n.565+4573_565+4588del | |
| ENST00000636681.1:c.*499_*514del (CLN5) | ENSP00000489922.1:n.*499_*514del | |
| ENST00000636705.1:c.644_659del (CLN5) | ||
| ENST00000636767.2:c.565+4573_565+4588del (CLN5) | ENSP00000489855.2:n.565+4573_565+4588del | |
| ENST00000636780.2:c.*257_*272del (CLN5) | ENSP00000489809.2:n.*257_*272del | |
| ENST00000637192.1:c.213+4573_213+4588del | ||
| ENST00000637278.1:n.1134_1149del (CLN5) | ||
| ENST00000637397.2:c.565+4573_565+4588del (CLN5) | ENSP00000490422.2:n.565+4573_565+4588del | |
| ENST00000638101.1:c.169+4573_169+4588del | ENSP00000490535.1:n.169+4573_169+4588del | |
| ENST00000638147.2:c.565+4573_565+4588del | ENSP00000490953.2:n.565+4573_565+4588del | |
| ENST00000377453.7:c.955_970del (CLN5) | ENSP00000366673.3:p.Gly319PhefsTer12 | |
| ENST00000477982.2:n.1599_1614del (FBXL3) | ||
| ENST00000485797.2:n.174-7759_174-7744del (FBXL3) | ||
| ENST00000616833.4:c.808_823del (CLN5) | ENSP00000479547.1:p.Gly270PhefsTer12 | |
| NM_006493.2:c.955_970del , LRG_692t1:c.955_970del (CLN5) | NP_006484.1:p.Gly319PhefsTer12 | |
| XM_011534917.1:c.*257_*272del (CLN5) | XP_011533219.1:n.*257_*272del | |
| NM_001366624.1:c.*257_*272del (CLN5) | NP_001353553.1:n.*257_*272del | |
| NM_006493.3:c.808_823del (CLN5) | NP_006484.2:p.Gly270PhefsTer12 | |
| XM_017020538.2:c.644-7759_644-7744del (FBXL3) | XP_016876027.1:n.644-7759_644-7744del | |
| NM_001366624.2:c.*257_*272del (CLN5) | NP_001353553.1:n.*257_*272del | |
| NM_006493.4:c.808_823del (CLN5) MANE Select | NP_006484.2:p.Gly270PhefsTer12 |