Linked Data
ClinVar Variation Id:
128784
dbSNP Id:
rs587780315
ExAC:
13:77570220 TG / T
gnomAD v2:
13-77570220-TG-T
gnomAD v3:
13-76996085-TG-T
gnomAD v4:
13-76996085-TG-T
MyVariant Identifiers:
chr13:g.77570222del (hg19)
chr13:g.77570221del (hg19)
chr13:g.76996087del (hg38)
chr13:g.76996086del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76996087del , CM000675.2:g.76996087del | GRCh38 |
| NC_000013.10:g.77570222del , CM000675.1:g.77570222del | GRCh37 |
| NC_000013.9:g.76468223del | NCBI36 |
| NG_009064.1:g.9164del , LRG_692:g.9164del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.525del (CLN5) MANE Select | ENSP00000366673.5:p.Trp175Ter | |
| ENST00000485938.4:c.525del (CLN5) | ENSP00000482959.3:p.Trp175Ter | |
| ENST00000616833.6:c.525del (CLN5) | ENSP00000479547.3:p.Trp175Ter | |
| ENST00000635838.1:c.134del | ||
| ENST00000635905.1:n.526del (CLN5) | ||
| ENST00000635915.1:c.523del (CLN5) | ||
| ENST00000635989.1:n.592del (CLN5) | ||
| ENST00000636183.2:c.525del (CLN5) | ENSP00000490181.2:p.Trp175Ter | |
| ENST00000636520.1:n.2037del (CLN5) | ||
| ENST00000636525.2:c.525del (CLN5) | ENSP00000490078.2:p.Trp175Ter | |
| ENST00000636602.1:n.471del (CLN5) | ||
| ENST00000636681.1:c.*216del (CLN5) | ENSP00000489922.1:n.*216del | |
| ENST00000636705.1:c.361del (CLN5) | ||
| ENST00000636767.2:c.525del (CLN5) | ENSP00000489855.2:p.Trp175Ter | |
| ENST00000636780.2:c.525del (CLN5) | ENSP00000489809.2:p.Trp175Ter | |
| ENST00000637192.1:c.173del | ||
| ENST00000637278.1:n.851del (CLN5) | ||
| ENST00000637397.2:c.525del (CLN5) | ENSP00000490422.2:p.Trp175Ter | |
| ENST00000637537.2:c.525del (CLN5) | ENSP00000489711.2:p.Trp175Ter | |
| ENST00000638101.1:c.129del | ENSP00000490535.1:p.Trp43Ter | |
| ENST00000638147.2:c.525del | ENSP00000490953.2:p.Trp175Ter | |
| ENST00000377453.7:c.672del (CLN5) | ENSP00000366673.3:p.Trp224Ter | |
| ENST00000485797.2:n.174-3135del (FBXL3) | ||
| ENST00000485938.2:c.508del (CLN5) | ||
| ENST00000616833.4:c.525del (CLN5) | ENSP00000479547.1:p.Trp175Ter | |
| NM_006493.2:c.672del , LRG_692t1:c.672del (CLN5) | NP_006484.1:p.Trp224Ter | |
| XM_011534917.1:c.672del (CLN5) | XP_011533219.1:p.Trp224Ter | |
| NM_001366624.1:c.525del (CLN5) | NP_001353553.1:p.Trp175Ter | |
| NM_006493.3:c.525del (CLN5) | NP_006484.2:p.Trp175Ter | |
| XM_017020538.2:c.644-3135del (FBXL3) | XP_016876027.1:n.644-3135del | |
| NM_001366624.2:c.525del (CLN5) | NP_001353553.1:p.Trp175Ter | |
| NM_006493.4:c.525del (CLN5) MANE Select | NP_006484.2:p.Trp175Ter |