Linked Data
dbSNP Id:
rs1176914756
gnomAD v4:
13-77001111-A-ACAT
MyVariant Identifiers:
chr13:g.77575246_77575247insCAT (hg19)
chr13:g.77001111_77001112insCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77001113_77001115dup , CM000675.2:g.77001113_77001115dup | GRCh38 |
| NC_000013.10:g.77575248_77575250dup , CM000675.1:g.77575248_77575250dup | GRCh37 |
| NC_000013.9:g.76473249_76473251dup | NCBI36 |
| NG_009064.1:g.14190_14192dup , LRG_692:g.14190_14192dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.*144_*146dup (CLN5) MANE Select | ENSP00000366673.5:n.*144_*146dup | |
| ENST00000616833.6:c.*663_*665dup (CLN5) | ENSP00000479547.3:n.*663_*665dup | |
| ENST00000635838.1:c.174+4986_174+4988dup | ||
| ENST00000635905.1:n.566+4986_566+4988dup (CLN5) | ||
| ENST00000635915.1:c.1219_1221dup (CLN5) | ||
| ENST00000636183.2:c.*144_*146dup (CLN5) | ENSP00000490181.2:n.*144_*146dup | |
| ENST00000636525.2:c.565+4986_565+4988dup (CLN5) | ENSP00000490078.2:n.565+4986_565+4988dup | |
| ENST00000636681.1:c.*912_*914dup (CLN5) | ENSP00000489922.1:n.*912_*914dup | |
| ENST00000636705.1:c.1057_1059dup (CLN5) | ||
| ENST00000636767.2:c.565+4986_565+4988dup (CLN5) | ENSP00000489855.2:n.565+4986_565+4988dup | |
| ENST00000636780.2:c.*670_*672dup (CLN5) | ENSP00000489809.2:n.*670_*672dup | |
| ENST00000637192.1:c.213+4986_213+4988dup | ||
| ENST00000637278.1:n.1547_1549dup (CLN5) | ||
| ENST00000637397.2:c.565+4986_565+4988dup (CLN5) | ENSP00000490422.2:n.565+4986_565+4988dup | |
| ENST00000638101.1:c.169+4986_169+4988dup | ENSP00000490535.1:n.169+4986_169+4988dup | |
| ENST00000638147.2:c.565+4986_565+4988dup | ENSP00000490953.2:n.565+4986_565+4988dup | |
| ENST00000377453.7:c.*144_*146dup (CLN5) | ENSP00000366673.3:n.*144_*146dup | |
| ENST00000477982.2:n.1195_1197dup (FBXL3) | ||
| ENST00000485797.2:n.174-8163_174-8161dup (FBXL3) | ||
| ENST00000616833.4:c.*144_*146dup (CLN5) | ENSP00000479547.1:n.*144_*146dup | |
| NM_006493.2:c.*144_*146dup , LRG_692t1:c.*144_*146dup (CLN5) | NP_006484.1:n.*144_*146dup | |
| NM_001366624.1:c.*670_*672dup (CLN5) | NP_001353553.1:n.*670_*672dup | |
| NM_006493.3:c.*144_*146dup (CLN5) | NP_006484.2:n.*144_*146dup | |
| XM_017020538.2:c.644-8163_644-8161dup (FBXL3) | XP_016876027.1:n.644-8163_644-8161dup | |
| NM_001366624.2:c.*670_*672dup (CLN5) | NP_001353553.1:n.*670_*672dup | |
| NM_006493.4:c.*144_*146dup (CLN5) MANE Select | NP_006484.2:n.*144_*146dup |