Linked Data
ClinVar Variation Id:
418687
ClinVar RCV Id:
RCV000487392
dbSNP Id:
rs1064793367
gnomAD v4:
2-178592602-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592604del , CM000664.2:g.178592604del | GRCh38 |
| NC_000002.11:g.179457331del , CM000664.1:g.179457331del | GRCh37 |
| NC_000002.10:g.179165577del | NCBI36 |
| NG_011618.3:g.243200del , LRG_391:g.243200del | |
| NG_051363.1:g.74778del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.51698del (TTN) | ENSP00000343764.6:p.Gly17233ValfsTer4 | |
| ENST00000342175.11:c.32783del (TTN) | ENSP00000340554.6:p.Gly10928ValfsTer4 | |
| ENST00000359218.10:c.32582del (TTN) | ENSP00000352154.5:p.Gly10861ValfsTer4 | |
| ENST00000342175.10:c.32783del (TTN) | ENSP00000340554.6:p.Gly10928ValfsTer4 | |
| ENST00000342992.10:c.51698del (TTN) | ENSP00000343764.6:p.Gly17233ValfsTer4 | |
| ENST00000359218.9:c.32582del (TTN) | ENSP00000352154.5:p.Gly10861ValfsTer4 | |
| ENST00000460472.6:c.32207del (TTN) | ENSP00000434586.1:p.Gly10736ValfsTer4 | |
| ENST00000589042.5:c.59402del (TTN) MANE Select | ENSP00000467141.1:p.Gly19801ValfsTer4 | |
| ENST00000591111.5:c.54479del (TTN) | ENSP00000465570.1:p.Gly18160ValfsTer4 | |
| ENST00000615779.4:c.54479del (TTN) | ENSP00000483597.1:p.Gly18160ValfsTer4 | |
| NM_001256850.1:c.54479del (TTN) | NP_001243779.1:p.Gly18160ValfsTer4 | |
| NM_001267550.2:c.59402del (TTN) MANE Select | NP_001254479.2:p.Gly19801ValfsTer4 | |
| NM_003319.4:c.32207del (TTN) | NP_003310.4:p.Gly10736ValfsTer4 | |
| NM_133378.4:c.51698del (TTN) | NP_596869.4:p.Gly17233ValfsTer4 | |
| NM_133432.3:c.32582del (TTN) | NP_597676.3:p.Gly10861ValfsTer4 | |
| NM_133437.4:c.32783del (TTN) | NP_597681.4:p.Gly10928ValfsTer4 | |
| NR_038271.1:n.597-4992del (TTN-AS1) | ||
| NR_038272.1:n.3364+1290del (TTN-AS1) | ||
| XM_011511729.1:c.58499del (TTN) | XP_011510031.1:p.Gly19500ValfsTer4 | |
| XM_011511730.1:c.32393del (TTN) | XP_011510032.1:p.Gly10798ValfsTer4 | |
| XM_011511731.1:c.32252del (TTN) | XP_011510033.1:p.Gly10751ValfsTer4 | |
| XM_017004819.1:c.58295del (TTN) | XP_016860308.1:p.Gly19432ValfsTer4 | |
| XM_017004820.1:c.53693del (TTN) | XP_016860309.1:p.Gly17898ValfsTer4 | |
| XM_017004821.1:c.53690del (TTN) | XP_016860310.1:p.Gly17897ValfsTer4 | |
| XM_017004822.1:c.50732del (TTN) | XP_016860311.1:p.Gly16911ValfsTer4 | |
| XM_017004823.1:c.32348del (TTN) | XP_016860312.1:p.Gly10783ValfsTer4 | |
| XM_024453094.1:c.53843del (TTN) | XP_024308862.1:p.Gly17948ValfsTer4 | |
| XM_024453095.1:c.53840del (TTN) | XP_024308863.1:p.Gly17947ValfsTer4 | |
| XM_024453096.1:c.53273del (TTN) | XP_024308864.1:p.Gly17758ValfsTer4 | |
| XM_024453097.1:c.50615del (TTN) | XP_024308865.1:p.Gly16872ValfsTer4 | |
| XM_024453098.1:c.50534del (TTN) | XP_024308866.1:p.Gly16845ValfsTer4 | |
| XM_024453099.1:c.32297del (TTN) | XP_024308867.1:p.Gly10766ValfsTer4 | |
| XM_024453100.1:c.22151del (TTN) | XP_024308868.1:p.Gly7384ValfsTer4 |