Linked Data
ClinVar Variation Id:
223305
dbSNP Id:
rs869312069
gnomAD v4:
2-178529121-CT-C
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178529126del , CM000664.2:g.178529126del | GRCh38 |
| NC_000002.11:g.179393853del , CM000664.1:g.179393853del | GRCh37 |
| NC_000002.10:g.179102099del | NCBI36 |
| NG_011618.3:g.306681del , LRG_391:g.306681del | |
| NG_051363.1:g.11300del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98925del (TTN) | ENSP00000343764.6:p.Ala32976ProfsTer2 | |
| ENST00000342175.11:c.80010del (TTN) | ENSP00000340554.6:p.Ala26671ProfsTer2 | |
| ENST00000359218.10:c.79809del (TTN) | ENSP00000352154.5:p.Ala26604ProfsTer2 | |
| ENST00000342175.10:c.80010del (TTN) | ENSP00000340554.6:p.Ala26671ProfsTer2 | |
| ENST00000342992.10:c.98925del (TTN) | ENSP00000343764.6:p.Ala32976ProfsTer2 | |
| ENST00000359218.9:c.79809del (TTN) | ENSP00000352154.5:p.Ala26604ProfsTer2 | |
| ENST00000460472.6:c.79434del (TTN) | ENSP00000434586.1:p.Ala26479ProfsTer2 | |
| ENST00000589042.5:c.106629del (TTN) MANE Select | ENSP00000467141.1:p.Ala35544ProfsTer2 | |
| ENST00000591111.5:c.101706del (TTN) | ENSP00000465570.1:p.Ala33903ProfsTer2 | |
| ENST00000615779.4:c.101706del (TTN) | ENSP00000483597.1:p.Ala33903ProfsTer2 | |
| NM_001256850.1:c.101706del (TTN) | NP_001243779.1:p.Ala33903ProfsTer2 | |
| NM_001267550.2:c.106629del (TTN) MANE Select | NP_001254479.2:p.Ala35544ProfsTer2 | |
| NM_003319.4:c.79434del (TTN) | NP_003310.4:p.Ala26479ProfsTer2 | |
| NM_133378.4:c.98925del (TTN) | NP_596869.4:p.Ala32976ProfsTer2 | |
| NM_133432.3:c.79809del (TTN) | NP_597676.3:p.Ala26604ProfsTer2 | |
| NM_133437.4:c.80010del (TTN) | NP_597681.4:p.Ala26671ProfsTer2 | |
| NR_038271.1:n.446+5490del (TTN-AS1) | ||
| NR_038272.1:n.219+5490del (TTN-AS1) | ||
| XM_011511729.1:c.105726del (TTN) | XP_011510031.1:p.Ala35243ProfsTer2 | |
| XM_011511730.1:c.79620del (TTN) | XP_011510032.1:p.Ala26541ProfsTer2 | |
| XM_011511731.1:c.79479del (TTN) | XP_011510033.1:p.Ala26494ProfsTer2 | |
| XM_017004819.1:c.105522del (TTN) | XP_016860308.1:p.Ala35175ProfsTer2 | |
| XM_017004820.1:c.100920del (TTN) | XP_016860309.1:p.Ala33641ProfsTer2 | |
| XM_017004821.1:c.100917del (TTN) | XP_016860310.1:p.Ala33640ProfsTer2 | |
| XM_017004822.1:c.97959del (TTN) | XP_016860311.1:p.Ala32654ProfsTer2 | |
| XM_017004823.1:c.79575del (TTN) | XP_016860312.1:p.Ala26526ProfsTer2 | |
| XM_024453094.1:c.101070del (TTN) | XP_024308862.1:p.Ala33691ProfsTer2 | |
| XM_024453095.1:c.101067del (TTN) | XP_024308863.1:p.Ala33690ProfsTer2 | |
| XM_024453096.1:c.100500del (TTN) | XP_024308864.1:p.Ala33501ProfsTer2 | |
| XM_024453097.1:c.97842del (TTN) | XP_024308865.1:p.Ala32615ProfsTer2 | |
| XM_024453098.1:c.97761del (TTN) | XP_024308866.1:p.Ala32588ProfsTer2 | |
| XM_024453099.1:c.79524del (TTN) | XP_024308867.1:p.Ala26509ProfsTer2 | |
| XM_024453100.1:c.69378del (TTN) | XP_024308868.1:p.Ala23127ProfsTer2 |