Linked Data
ClinVar Variation Id:
555601
dbSNP Id:
rs1555274365
MyVariant Identifiers:
chr13:g.77000730_77000733del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000730_77000733del , CM000675.2:g.77000730_77000733del | GRCh38 |
| NC_000013.10:g.77574865_77574868del , CM000675.1:g.77574865_77574868del | GRCh37 |
| NC_000013.9:g.76472866_76472869del | NCBI36 |
| NG_009064.1:g.13807_13810del , LRG_692:g.13807_13810del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.838_841del (CLN5) MANE Select | ENSP00000366673.5:p.Gly280ThrfsTer6 | |
| ENST00000616833.6:c.*280_*283del (CLN5) | ENSP00000479547.3:n.*280_*283del | |
| ENST00000635838.1:c.174+4603_174+4606del | ||
| ENST00000635905.1:n.566+4603_566+4606del (CLN5) | ||
| ENST00000635915.1:c.836_839del (CLN5) | ||
| ENST00000636183.2:c.838_841del (CLN5) | ENSP00000490181.2:p.Gly280ThrfsTer6 | |
| ENST00000636525.2:c.565+4603_565+4606del (CLN5) | ENSP00000490078.2:n.565+4603_565+4606del | |
| ENST00000636681.1:c.*529_*532del (CLN5) | ENSP00000489922.1:n.*529_*532del | |
| ENST00000636705.1:c.674_677del (CLN5) | ||
| ENST00000636767.2:c.565+4603_565+4606del (CLN5) | ENSP00000489855.2:n.565+4603_565+4606del | |
| ENST00000636780.2:c.*287_*290del (CLN5) | ENSP00000489809.2:n.*287_*290del | |
| ENST00000637192.1:c.213+4603_213+4606del | ||
| ENST00000637278.1:n.1164_1167del (CLN5) | ||
| ENST00000637397.2:c.565+4603_565+4606del (CLN5) | ENSP00000490422.2:n.565+4603_565+4606del | |
| ENST00000638101.1:c.169+4603_169+4606del | ENSP00000490535.1:n.169+4603_169+4606del | |
| ENST00000638147.2:c.565+4603_565+4606del | ENSP00000490953.2:n.565+4603_565+4606del | |
| ENST00000377453.7:c.985_988del (CLN5) | ENSP00000366673.3:p.Gly329ThrfsTer6 | |
| ENST00000477982.2:n.1577_1580del (FBXL3) | ||
| ENST00000485797.2:n.174-7781_174-7778del (FBXL3) | ||
| ENST00000616833.4:c.838_841del (CLN5) | ENSP00000479547.1:p.Gly280ThrfsTer6 | |
| NM_006493.2:c.985_988del , LRG_692t1:c.985_988del (CLN5) | NP_006484.1:p.Gly329ThrfsTer6 | |
| XM_011534917.1:c.*287_*290del (CLN5) | XP_011533219.1:n.*287_*290del | |
| NM_001366624.1:c.*287_*290del (CLN5) | NP_001353553.1:n.*287_*290del | |
| NM_006493.3:c.838_841del (CLN5) | NP_006484.2:p.Gly280ThrfsTer6 | |
| XM_017020538.2:c.644-7781_644-7778del (FBXL3) | XP_016876027.1:n.644-7781_644-7778del | |
| NM_001366624.2:c.*287_*290del (CLN5) | NP_001353553.1:n.*287_*290del | |
| NM_006493.4:c.838_841del (CLN5) MANE Select | NP_006484.2:p.Gly280ThrfsTer6 |