Linked Data
ClinVar Variation Id:
189038
dbSNP Id:
rs786204644
ExAC:
13:77574801 AAT / A
gnomAD v2:
13-77574801-AAT-A
gnomAD v3:
13-77000666-AAT-A
gnomAD v4:
13-77000666-AAT-A
MyVariant Identifiers:
chr13:g.77574804_77574805del (hg19)
chr13:g.77574802_77574803del (hg19)
chr13:g.77000669_77000670del (hg38)
chr13:g.77000667_77000668del (hg38)
PubMed:
PMID:22532218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000669_77000670del , CM000675.2:g.77000669_77000670del | GRCh38 |
| NC_000013.10:g.77574804_77574805del , CM000675.1:g.77574804_77574805del | GRCh37 |
| NC_000013.9:g.76472805_76472806del | NCBI36 |
| NG_009064.1:g.13746_13747del , LRG_692:g.13746_13747del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.777_778del (CLN5) MANE Select | ENSP00000366673.5:p.Phe260SerfsTer12 | |
| ENST00000616833.6:c.*219_*220del (CLN5) | ENSP00000479547.3:n.*219_*220del | |
| ENST00000635838.1:c.174+4542_174+4543del | ||
| ENST00000635905.1:n.566+4542_566+4543del (CLN5) | ||
| ENST00000635915.1:c.775_776del (CLN5) | ||
| ENST00000636183.2:c.777_778del (CLN5) | ENSP00000490181.2:p.Phe260SerfsTer12 | |
| ENST00000636525.2:c.565+4542_565+4543del (CLN5) | ENSP00000490078.2:n.565+4542_565+4543del | |
| ENST00000636681.1:c.*468_*469del (CLN5) | ENSP00000489922.1:n.*468_*469del | |
| ENST00000636705.1:c.613_614del (CLN5) | ||
| ENST00000636767.2:c.565+4542_565+4543del (CLN5) | ENSP00000489855.2:n.565+4542_565+4543del | |
| ENST00000636780.2:c.*226_*227del (CLN5) | ENSP00000489809.2:n.*226_*227del | |
| ENST00000637192.1:c.213+4542_213+4543del | ||
| ENST00000637278.1:n.1103_1104del (CLN5) | ||
| ENST00000637397.2:c.565+4542_565+4543del (CLN5) | ENSP00000490422.2:n.565+4542_565+4543del | |
| ENST00000638101.1:c.169+4542_169+4543del | ENSP00000490535.1:n.169+4542_169+4543del | |
| ENST00000638147.2:c.565+4542_565+4543del | ENSP00000490953.2:n.565+4542_565+4543del | |
| ENST00000377453.7:c.924_925del (CLN5) | ENSP00000366673.3:p.Phe309SerfsTer12 | |
| ENST00000477982.2:n.1641_1642del (FBXL3) | ||
| ENST00000485797.2:n.174-7717_174-7716del (FBXL3) | ||
| ENST00000616833.4:c.777_778del (CLN5) | ENSP00000479547.1:p.Phe260SerfsTer12 | |
| NM_006493.2:c.924_925del , LRG_692t1:c.924_925del (CLN5) | NP_006484.1:p.Phe309SerfsTer12 | |
| XM_011534917.1:c.*226_*227del (CLN5) | XP_011533219.1:n.*226_*227del | |
| NM_001366624.1:c.*226_*227del (CLN5) | NP_001353553.1:n.*226_*227del | |
| NM_006493.3:c.777_778del (CLN5) | NP_006484.2:p.Phe260SerfsTer12 | |
| XM_017020538.2:c.644-7717_644-7716del (FBXL3) | XP_016876027.1:n.644-7717_644-7716del | |
| NM_001366624.2:c.*226_*227del (CLN5) | NP_001353553.1:n.*226_*227del | |
| NM_006493.4:c.777_778del (CLN5) MANE Select | NP_006484.2:p.Phe260SerfsTer12 |