Linked Data
ClinVar Variation Id:
420426
dbSNP Id:
rs1064794472
gnomAD v3:
2-178553784-T-TA
gnomAD v4:
2-178553784-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553784_178553785insA , CM000664.2:g.178553784_178553785insA | GRCh38 |
| NC_000002.11:g.179418511_179418512insA , CM000664.1:g.179418511_179418512insA | GRCh37 |
| NC_000002.10:g.179126757_179126758insA | NCBI36 |
| NG_011618.3:g.282018_282019insT , LRG_391:g.282018_282019insT | |
| NG_051363.1:g.35958_35959insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.81516_81517insT (TTN) | ENSP00000343764.6:p.Ile27173TyrfsTer17 | |
| ENST00000342175.11:c.62601_62602insT (TTN) | ENSP00000340554.6:p.Ile20868TyrfsTer17 | |
| ENST00000359218.10:c.62400_62401insT (TTN) | ENSP00000352154.5:p.Ile20801TyrfsTer17 | |
| ENST00000342175.10:c.62601_62602insT (TTN) | ENSP00000340554.6:p.Ile20868TyrfsTer17 | |
| ENST00000342992.10:c.81516_81517insT (TTN) | ENSP00000343764.6:p.Ile27173TyrfsTer17 | |
| ENST00000359218.9:c.62400_62401insT (TTN) | ENSP00000352154.5:p.Ile20801TyrfsTer17 | |
| ENST00000460472.6:c.62025_62026insT (TTN) | ENSP00000434586.1:p.Ile20676TyrfsTer17 | |
| ENST00000589042.5:c.89220_89221insT (TTN) MANE Select | ENSP00000467141.1:p.Ile29741TyrfsTer17 | |
| ENST00000591111.5:c.84297_84298insT (TTN) | ENSP00000465570.1:p.Ile28100TyrfsTer17 | |
| ENST00000615779.4:c.84297_84298insT (TTN) | ENSP00000483597.1:p.Ile28100TyrfsTer17 | |
| NM_001256850.1:c.84297_84298insT (TTN) | NP_001243779.1:p.Ile28100TyrfsTer17 | |
| NM_001267550.2:c.89220_89221insT (TTN) MANE Select | NP_001254479.2:p.Ile29741TyrfsTer17 | |
| NM_003319.4:c.62025_62026insT (TTN) | NP_003310.4:p.Ile20676TyrfsTer17 | |
| NM_133378.4:c.81516_81517insT (TTN) | NP_596869.4:p.Ile27173TyrfsTer17 | |
| NM_133432.3:c.62400_62401insT (TTN) | NP_597676.3:p.Ile20801TyrfsTer17 | |
| NM_133437.4:c.62601_62602insT (TTN) | NP_597681.4:p.Ile20868TyrfsTer17 | |
| NR_038271.1:n.447-17516_447-17515insA (TTN-AS1) | ||
| NR_038272.1:n.2043+11423_2043+11424insA (TTN-AS1) | ||
| XM_011511729.1:c.88317_88318insT (TTN) | XP_011510031.1:p.Ile29440TyrfsTer17 | |
| XM_011511730.1:c.62211_62212insT (TTN) | XP_011510032.1:p.Ile20738TyrfsTer17 | |
| XM_011511731.1:c.62070_62071insT (TTN) | XP_011510033.1:p.Ile20691TyrfsTer17 | |
| XM_017004819.1:c.88113_88114insT (TTN) | XP_016860308.1:p.Ile29372TyrfsTer17 | |
| XM_017004820.1:c.83511_83512insT (TTN) | XP_016860309.1:p.Ile27838TyrfsTer17 | |
| XM_017004821.1:c.83508_83509insT (TTN) | XP_016860310.1:p.Ile27837TyrfsTer17 | |
| XM_017004822.1:c.80550_80551insT (TTN) | XP_016860311.1:p.Ile26851TyrfsTer17 | |
| XM_017004823.1:c.62166_62167insT (TTN) | XP_016860312.1:p.Ile20723TyrfsTer17 | |
| XM_024453094.1:c.83661_83662insT (TTN) | XP_024308862.1:p.Ile27888TyrfsTer17 | |
| XM_024453095.1:c.83658_83659insT (TTN) | XP_024308863.1:p.Ile27887TyrfsTer17 | |
| XM_024453096.1:c.83091_83092insT (TTN) | XP_024308864.1:p.Ile27698TyrfsTer17 | |
| XM_024453097.1:c.80433_80434insT (TTN) | XP_024308865.1:p.Ile26812TyrfsTer17 | |
| XM_024453098.1:c.80352_80353insT (TTN) | XP_024308866.1:p.Ile26785TyrfsTer17 | |
| XM_024453099.1:c.62115_62116insT (TTN) | XP_024308867.1:p.Ile20706TyrfsTer17 | |
| XM_024453100.1:c.51969_51970insT (TTN) | XP_024308868.1:p.Ile17324TyrfsTer17 |