Linked Data
ClinVar Variation Id:
558374
dbSNP Id:
rs1555274343
gnomAD v4:
13-77000593-TTG-T
MyVariant Identifiers:
chr13:g.77000597_77000598del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000597_77000598del , CM000675.2:g.77000597_77000598del | GRCh38 |
| NC_000013.10:g.77574732_77574733del , CM000675.1:g.77574732_77574733del | GRCh37 |
| NC_000013.9:g.76472733_76472734del | NCBI36 |
| NG_009064.1:g.13674_13675del , LRG_692:g.13674_13675del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.705_706del (CLN5) MANE Select | ENSP00000366673.5:p.Leu236LysfsTer4 | |
| ENST00000616833.6:c.*147_*148del (CLN5) | ENSP00000479547.3:n.*147_*148del | |
| ENST00000635838.1:c.174+4470_174+4471del | ||
| ENST00000635905.1:n.566+4470_566+4471del (CLN5) | ||
| ENST00000635915.1:c.703_704del (CLN5) | ||
| ENST00000636183.2:c.705_706del (CLN5) | ENSP00000490181.2:p.Leu236LysfsTer4 | |
| ENST00000636525.2:c.565+4470_565+4471del (CLN5) | ENSP00000490078.2:n.565+4470_565+4471del | |
| ENST00000636681.1:c.*396_*397del (CLN5) | ENSP00000489922.1:n.*396_*397del | |
| ENST00000636705.1:c.541_542del (CLN5) | ||
| ENST00000636767.2:c.565+4470_565+4471del (CLN5) | ENSP00000489855.2:n.565+4470_565+4471del | |
| ENST00000636780.2:c.*154_*155del (CLN5) | ENSP00000489809.2:n.*154_*155del | |
| ENST00000637192.1:c.213+4470_213+4471del | ||
| ENST00000637278.1:n.1031_1032del (CLN5) | ||
| ENST00000637397.2:c.565+4470_565+4471del (CLN5) | ENSP00000490422.2:n.565+4470_565+4471del | |
| ENST00000638101.1:c.169+4470_169+4471del | ENSP00000490535.1:n.169+4470_169+4471del | |
| ENST00000638147.2:c.565+4470_565+4471del | ENSP00000490953.2:n.565+4470_565+4471del | |
| ENST00000377453.7:c.852_853del (CLN5) | ENSP00000366673.3:p.Leu285LysfsTer4 | |
| ENST00000477982.2:n.1714_1715del (FBXL3) | ||
| ENST00000485797.2:n.174-7644_174-7643del (FBXL3) | ||
| ENST00000616833.4:c.705_706del (CLN5) | ENSP00000479547.1:p.Leu236LysfsTer4 | |
| NM_006493.2:c.852_853del , LRG_692t1:c.852_853del (CLN5) | NP_006484.1:p.Leu285LysfsTer4 | |
| XM_011534917.1:c.*154_*155del (CLN5) | XP_011533219.1:n.*154_*155del | |
| NM_001366624.1:c.*154_*155del (CLN5) | NP_001353553.1:n.*154_*155del | |
| NM_006493.3:c.705_706del (CLN5) | NP_006484.2:p.Leu236LysfsTer4 | |
| XM_017020538.2:c.644-7644_644-7643del (FBXL3) | XP_016876027.1:n.644-7644_644-7643del | |
| NM_001366624.2:c.*154_*155del (CLN5) | NP_001353553.1:n.*154_*155del | |
| NM_006493.4:c.705_706del (CLN5) MANE Select | NP_006484.2:p.Leu236LysfsTer4 |