Linked Data
ClinVar Variation Id:
552578
dbSNP Id:
rs1555274344
gnomAD v4:
13-77000604-ACCTTTAAC-A
MyVariant Identifiers:
chr13:g.77000605_77000612del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000605_77000612del , CM000675.2:g.77000605_77000612del | GRCh38 |
| NC_000013.10:g.77574740_77574747del , CM000675.1:g.77574740_77574747del | GRCh37 |
| NC_000013.9:g.76472741_76472748del | NCBI36 |
| NG_009064.1:g.13682_13689del , LRG_692:g.13682_13689del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.713_720del (CLN5) MANE Select | ENSP00000366673.5:p.Thr238LysfsTer4 | |
| ENST00000616833.6:c.*155_*162del (CLN5) | ENSP00000479547.3:n.*155_*162del | |
| ENST00000635838.1:c.174+4478_174+4485del | ||
| ENST00000635905.1:n.566+4478_566+4485del (CLN5) | ||
| ENST00000635915.1:c.711_718del (CLN5) | ||
| ENST00000636183.2:c.713_720del (CLN5) | ENSP00000490181.2:p.Thr238LysfsTer4 | |
| ENST00000636525.2:c.565+4478_565+4485del (CLN5) | ENSP00000490078.2:n.565+4478_565+4485del | |
| ENST00000636681.1:c.*404_*411del (CLN5) | ENSP00000489922.1:n.*404_*411del | |
| ENST00000636705.1:c.549_556del (CLN5) | ||
| ENST00000636767.2:c.565+4478_565+4485del (CLN5) | ENSP00000489855.2:n.565+4478_565+4485del | |
| ENST00000636780.2:c.*162_*169del (CLN5) | ENSP00000489809.2:n.*162_*169del | |
| ENST00000637192.1:c.213+4478_213+4485del | ||
| ENST00000637278.1:n.1039_1046del (CLN5) | ||
| ENST00000637397.2:c.565+4478_565+4485del (CLN5) | ENSP00000490422.2:n.565+4478_565+4485del | |
| ENST00000638101.1:c.169+4478_169+4485del | ENSP00000490535.1:n.169+4478_169+4485del | |
| ENST00000638147.2:c.565+4478_565+4485del | ENSP00000490953.2:n.565+4478_565+4485del | |
| ENST00000377453.7:c.860_867del (CLN5) | ENSP00000366673.3:p.Thr287LysfsTer4 | |
| ENST00000477982.2:n.1697_1704del (FBXL3) | ||
| ENST00000485797.2:n.174-7661_174-7654del (FBXL3) | ||
| ENST00000616833.4:c.713_720del (CLN5) | ENSP00000479547.1:p.Thr238LysfsTer4 | |
| NM_006493.2:c.860_867del , LRG_692t1:c.860_867del (CLN5) | NP_006484.1:p.Thr287LysfsTer4 | |
| XM_011534917.1:c.*162_*169del (CLN5) | XP_011533219.1:n.*162_*169del | |
| NM_001366624.1:c.*162_*169del (CLN5) | NP_001353553.1:n.*162_*169del | |
| NM_006493.3:c.713_720del (CLN5) | NP_006484.2:p.Thr238LysfsTer4 | |
| XM_017020538.2:c.644-7661_644-7654del (FBXL3) | XP_016876027.1:n.644-7661_644-7654del | |
| NM_001366624.2:c.*162_*169del (CLN5) | NP_001353553.1:n.*162_*169del | |
| NM_006493.4:c.713_720del (CLN5) MANE Select | NP_006484.2:p.Thr238LysfsTer4 |