Linked Data
ClinVar Variation Id:
281843
dbSNP Id:
rs749872538
ExAC:
2:179400585 GAA / G
gnomAD v2:
2-179400585-GAA-G
gnomAD v3:
2-178535858-GAA-G
gnomAD v4:
2-178535858-GAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535872_178535873del , CM000664.2:g.178535872_178535873del | GRCh38 |
| NC_000002.11:g.179400599_179400600del , CM000664.1:g.179400599_179400600del | GRCh37 |
| NC_000002.10:g.179108845_179108846del | NCBI36 |
| NG_011618.3:g.299943_299944del , LRG_391:g.299943_299944del | |
| NG_051363.1:g.18046_18047del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93062-11_93062-10del (TTN) | ENSP00000343764.6:n.93062-11_93062-10del | |
| ENST00000342175.11:c.74147-11_74147-10del (TTN) | ENSP00000340554.6:n.74147-11_74147-10del | |
| ENST00000359218.10:c.73946-11_73946-10del (TTN) | ENSP00000352154.5:n.73946-11_73946-10del | |
| ENST00000342175.10:c.74147-11_74147-10del (TTN) | ENSP00000340554.6:n.74147-11_74147-10del | |
| ENST00000342992.10:c.93062-11_93062-10del (TTN) | ENSP00000343764.6:n.93062-11_93062-10del | |
| ENST00000359218.9:c.73946-11_73946-10del (TTN) | ENSP00000352154.5:n.73946-11_73946-10del | |
| ENST00000460472.6:c.73571-11_73571-10del (TTN) | ENSP00000434586.1:n.73571-11_73571-10del | |
| ENST00000589042.5:c.100766-11_100766-10del (TTN) MANE Select | ENSP00000467141.1:n.100766-11_100766-10del | |
| ENST00000591111.5:c.95843-11_95843-10del (TTN) | ENSP00000465570.1:n.95843-11_95843-10del | |
| ENST00000615779.4:c.95843-11_95843-10del (TTN) | ENSP00000483597.1:n.95843-11_95843-10del | |
| NM_001256850.1:c.95843-11_95843-10del (TTN) | NP_001243779.1:n.95843-11_95843-10del | |
| NM_001267550.2:c.100766-11_100766-10del (TTN) MANE Select | NP_001254479.2:n.100766-11_100766-10del | |
| NM_003319.4:c.73571-11_73571-10del (TTN) | NP_003310.4:n.73571-11_73571-10del | |
| NM_133378.4:c.93062-11_93062-10del (TTN) | NP_596869.4:n.93062-11_93062-10del | |
| NM_133432.3:c.73946-11_73946-10del (TTN) | NP_597676.3:n.73946-11_73946-10del | |
| NM_133437.4:c.74147-11_74147-10del (TTN) | NP_597681.4:n.74147-11_74147-10del | |
| NR_038271.1:n.446+12236_446+12237del (TTN-AS1) | ||
| NR_038272.1:n.316+44_316+45del (TTN-AS1) | ||
| XM_011511729.1:c.99863-11_99863-10del (TTN) | XP_011510031.1:n.99863-11_99863-10del | |
| XM_011511730.1:c.73757-11_73757-10del (TTN) | XP_011510032.1:n.73757-11_73757-10del | |
| XM_011511731.1:c.73616-11_73616-10del (TTN) | XP_011510033.1:n.73616-11_73616-10del | |
| XM_017004819.1:c.99659-11_99659-10del (TTN) | XP_016860308.1:n.99659-11_99659-10del | |
| XM_017004820.1:c.95057-11_95057-10del (TTN) | XP_016860309.1:n.95057-11_95057-10del | |
| XM_017004821.1:c.95054-11_95054-10del (TTN) | XP_016860310.1:n.95054-11_95054-10del | |
| XM_017004822.1:c.92096-11_92096-10del (TTN) | XP_016860311.1:n.92096-11_92096-10del | |
| XM_017004823.1:c.73712-11_73712-10del (TTN) | XP_016860312.1:n.73712-11_73712-10del | |
| XM_024453094.1:c.95207-11_95207-10del (TTN) | XP_024308862.1:n.95207-11_95207-10del | |
| XM_024453095.1:c.95204-11_95204-10del (TTN) | XP_024308863.1:n.95204-11_95204-10del | |
| XM_024453096.1:c.94637-11_94637-10del (TTN) | XP_024308864.1:n.94637-11_94637-10del | |
| XM_024453097.1:c.91979-11_91979-10del (TTN) | XP_024308865.1:n.91979-11_91979-10del | |
| XM_024453098.1:c.91898-11_91898-10del (TTN) | XP_024308866.1:n.91898-11_91898-10del | |
| XM_024453099.1:c.73661-11_73661-10del (TTN) | XP_024308867.1:n.73661-11_73661-10del | |
| XM_024453100.1:c.63515-11_63515-10del (TTN) | XP_024308868.1:n.63515-11_63515-10del |