Linked Data
dbSNP Id:
rs386833969
ExAC:
13:77575052 CAT / C
gnomAD v2:
13-77575052-CAT-C
gnomAD v3:
13-77000917-CAT-C
gnomAD v4:
13-77000917-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000920_77000921del , CM000675.2:g.77000920_77000921del | GRCh38 |
| NC_000013.10:g.77575055_77575056del , CM000675.1:g.77575055_77575056del | GRCh37 |
| NC_000013.9:g.76473056_76473057del | NCBI36 |
| NG_009064.1:g.13997_13998del , LRG_692:g.13997_13998del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.1028_1029del (CLN5) MANE Select | ENSP00000366673.5:p.Tyr343Ter | |
| ENST00000616833.6:c.*470_*471del (CLN5) | ENSP00000479547.3:n.*470_*471del | |
| ENST00000635838.1:c.174+4793_174+4794del | ||
| ENST00000635905.1:n.566+4793_566+4794del (CLN5) | ||
| ENST00000635915.1:c.1026_1027del (CLN5) | ||
| ENST00000636183.2:c.1028_1029del (CLN5) | ENSP00000490181.2:p.Tyr343Ter | |
| ENST00000636525.2:c.565+4793_565+4794del (CLN5) | ENSP00000490078.2:n.565+4793_565+4794del | |
| ENST00000636681.1:c.*719_*720del (CLN5) | ENSP00000489922.1:n.*719_*720del | |
| ENST00000636705.1:c.864_865del (CLN5) | ||
| ENST00000636767.2:c.565+4793_565+4794del (CLN5) | ENSP00000489855.2:n.565+4793_565+4794del | |
| ENST00000636780.2:c.*477_*478del (CLN5) | ENSP00000489809.2:n.*477_*478del | |
| ENST00000637192.1:c.213+4793_213+4794del | ||
| ENST00000637278.1:n.1354_1355del (CLN5) | ||
| ENST00000637397.2:c.565+4793_565+4794del (CLN5) | ENSP00000490422.2:n.565+4793_565+4794del | |
| ENST00000638101.1:c.169+4793_169+4794del | ENSP00000490535.1:n.169+4793_169+4794del | |
| ENST00000638147.2:c.565+4793_565+4794del | ENSP00000490953.2:n.565+4793_565+4794del | |
| ENST00000377453.7:c.1175_1176del (CLN5) | ENSP00000366673.3:p.Tyr392Ter | |
| ENST00000477982.2:n.1390_1391del (FBXL3) | ||
| ENST00000485797.2:n.174-7968_174-7967del (FBXL3) | ||
| ENST00000616833.4:c.1028_1029del (CLN5) | ENSP00000479547.1:p.Tyr343Ter | |
| NM_006493.2:c.1175_1176del , LRG_692t1:c.1175_1176del (CLN5) | NP_006484.1:p.Tyr392Ter | |
| NM_001366624.1:c.*477_*478del (CLN5) | NP_001353553.1:n.*477_*478del | |
| NM_006493.3:c.1028_1029del (CLN5) | NP_006484.2:p.Tyr343Ter | |
| XM_017020538.2:c.644-7968_644-7967del (FBXL3) | XP_016876027.1:n.644-7968_644-7967del | |
| NM_001366624.2:c.*477_*478del (CLN5) | NP_001353553.1:n.*477_*478del | |
| NM_006493.4:c.1028_1029del (CLN5) MANE Select | NP_006484.2:p.Tyr343Ter |