Linked Data
dbSNP Id:
rs1566219068
gnomAD v2:
13-77570074-T-TA
gnomAD v4:
13-76995939-T-TA
MyVariant Identifiers:
chr13:g.77570074_77570075insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76995941dup , CM000675.2:g.76995941dup | GRCh38 |
| NC_000013.10:g.77570076dup , CM000675.1:g.77570076dup | GRCh37 |
| NC_000013.9:g.76468077dup | NCBI36 |
| NG_009064.1:g.9018dup , LRG_692:g.9018dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.379dup (CLN5) MANE Select | ENSP00000366673.5:p.Thr127AsnfsTer11 | |
| ENST00000485938.4:c.379dup (CLN5) | ENSP00000482959.3:p.Thr127AsnfsTer11 | |
| ENST00000616833.6:c.379dup (CLN5) | ENSP00000479547.3:p.Thr127AsnfsTer11 | |
| ENST00000635905.1:n.380dup (CLN5) | ||
| ENST00000635915.1:c.377dup (CLN5) | ||
| ENST00000635989.1:n.446dup (CLN5) | ||
| ENST00000636183.2:c.379dup (CLN5) | ENSP00000490181.2:p.Thr127AsnfsTer11 | |
| ENST00000636520.1:n.1891dup (CLN5) | ||
| ENST00000636525.2:c.379dup (CLN5) | ENSP00000490078.2:p.Thr127AsnfsTer11 | |
| ENST00000636602.1:n.325dup (CLN5) | ||
| ENST00000636681.1:c.*70dup (CLN5) | ENSP00000489922.1:n.*70dup | |
| ENST00000636705.1:c.215dup (CLN5) | ||
| ENST00000636767.2:c.379dup (CLN5) | ENSP00000489855.2:p.Thr127AsnfsTer11 | |
| ENST00000636780.2:c.379dup (CLN5) | ENSP00000489809.2:p.Thr127AsnfsTer11 | |
| ENST00000637192.1:c.27dup | ||
| ENST00000637278.1:n.705dup (CLN5) | ||
| ENST00000637397.2:c.379dup (CLN5) | ENSP00000490422.2:p.Thr127AsnfsTer11 | |
| ENST00000637537.2:c.379dup (CLN5) | ENSP00000489711.2:p.Thr127AsnfsTer11 | |
| ENST00000638147.2:c.379dup | ENSP00000490953.2:p.Thr127AsnfsTer11 | |
| ENST00000377453.7:c.526dup (CLN5) | ENSP00000366673.3:p.Thr176AsnfsTer11 | |
| ENST00000485797.2:n.174-2989dup (FBXL3) | ||
| ENST00000485938.2:c.362dup (CLN5) | ||
| ENST00000616833.4:c.379dup (CLN5) | ENSP00000479547.1:p.Thr127AsnfsTer11 | |
| NM_006493.2:c.526dup , LRG_692t1:c.526dup (CLN5) | NP_006484.1:p.Thr176AsnfsTer11 | |
| XM_011534917.1:c.526dup (CLN5) | XP_011533219.1:p.Thr176AsnfsTer11 | |
| NM_001366624.1:c.379dup (CLN5) | NP_001353553.1:p.Thr127AsnfsTer11 | |
| NM_006493.3:c.379dup (CLN5) | NP_006484.2:p.Thr127AsnfsTer11 | |
| XM_017020538.2:c.644-2989dup (FBXL3) | XP_016876027.1:n.644-2989dup | |
| NM_001366624.2:c.379dup (CLN5) | NP_001353553.1:p.Thr127AsnfsTer11 | |
| NM_006493.4:c.379dup (CLN5) MANE Select | NP_006484.2:p.Thr127AsnfsTer11 |