ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586614del , CM000664.2:g.178586614del | GRCh38 |
| NC_000002.11:g.179451341del , CM000664.1:g.179451341del | GRCh37 |
| NC_000002.10:g.179159587del | NCBI36 |
| NG_011618.3:g.249189del , LRG_391:g.249189del | |
| NG_051363.1:g.68788del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56583del (TTN) | ENSP00000343764.6:p.Gly18862AlafsTer2 | |
| ENST00000342175.11:c.37668del (TTN) | ENSP00000340554.6:p.Gly12557AlafsTer2 | |
| ENST00000359218.10:c.37467del (TTN) | ENSP00000352154.5:p.Gly12490AlafsTer2 | |
| ENST00000342175.10:c.37668del (TTN) | ENSP00000340554.6:p.Gly12557AlafsTer2 | |
| ENST00000342992.10:c.56583del (TTN) | ENSP00000343764.6:p.Gly18862AlafsTer2 | |
| ENST00000359218.9:c.37467del (TTN) | ENSP00000352154.5:p.Gly12490AlafsTer2 | |
| ENST00000460472.6:c.37092del (TTN) | ENSP00000434586.1:p.Gly12365AlafsTer2 | |
| ENST00000589042.5:c.64287del (TTN) MANE Select | ENSP00000467141.1:p.Gly21430AlafsTer2 | |
| ENST00000591111.5:c.59364del (TTN) | ENSP00000465570.1:p.Gly19789AlafsTer2 | |
| ENST00000615779.4:c.59364del (TTN) | ENSP00000483597.1:p.Gly19789AlafsTer2 | |
| NM_001256850.1:c.59364del (TTN) | NP_001243779.1:p.Gly19789AlafsTer2 | |
| NM_001267550.2:c.64287del (TTN) MANE Select | NP_001254479.2:p.Gly21430AlafsTer2 | |
| NM_003319.4:c.37092del (TTN) | NP_003310.4:p.Gly12365AlafsTer2 | |
| NM_133378.4:c.56583del (TTN) | NP_596869.4:p.Gly18862AlafsTer2 | |
| NM_133432.3:c.37467del (TTN) | NP_597676.3:p.Gly12490AlafsTer2 | |
| NM_133437.4:c.37668del (TTN) | NP_597681.4:p.Gly12557AlafsTer2 | |
| NR_038271.1:n.597-10982del (TTN-AS1) | ||
| NR_038272.1:n.3188+1621del (TTN-AS1) | ||
| XM_011511729.1:c.63384del (TTN) | XP_011510031.1:p.Gly21129AlafsTer2 | |
| XM_011511730.1:c.37278del (TTN) | XP_011510032.1:p.Gly12427AlafsTer2 | |
| XM_011511731.1:c.37137del (TTN) | XP_011510033.1:p.Gly12380AlafsTer2 | |
| XM_017004819.1:c.63180del (TTN) | XP_016860308.1:p.Gly21061AlafsTer2 | |
| XM_017004820.1:c.58578del (TTN) | XP_016860309.1:p.Gly19527AlafsTer2 | |
| XM_017004821.1:c.58575del (TTN) | XP_016860310.1:p.Gly19526AlafsTer2 | |
| XM_017004822.1:c.55617del (TTN) | XP_016860311.1:p.Gly18540AlafsTer2 | |
| XM_017004823.1:c.37233del (TTN) | XP_016860312.1:p.Gly12412AlafsTer2 | |
| XM_024453094.1:c.58728del (TTN) | XP_024308862.1:p.Gly19577AlafsTer2 | |
| XM_024453095.1:c.58725del (TTN) | XP_024308863.1:p.Gly19576AlafsTer2 | |
| XM_024453096.1:c.58158del (TTN) | XP_024308864.1:p.Gly19387AlafsTer2 | |
| XM_024453097.1:c.55500del (TTN) | XP_024308865.1:p.Gly18501AlafsTer2 | |
| XM_024453098.1:c.55419del (TTN) | XP_024308866.1:p.Gly18474AlafsTer2 | |
| XM_024453099.1:c.37182del (TTN) | XP_024308867.1:p.Gly12395AlafsTer2 | |
| XM_024453100.1:c.27036del (TTN) | XP_024308868.1:p.Gly9013AlafsTer2 |