Linked Data
ClinVar Variation Id:
282515
ClinVar RCV Id:
RCV000390142
dbSNP Id:
rs886042414
gnomAD v4:
2-178609417-GCTGCACGCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609420_178609429del , CM000664.2:g.178609420_178609429del | GRCh38 |
| NC_000002.11:g.179474147_179474156del , CM000664.1:g.179474147_179474156del | GRCh37 |
| NC_000002.10:g.179182392_179182401del | NCBI36 |
| NG_011618.3:g.226376_226385del , LRG_391:g.226376_226385del | |
| NG_051363.1:g.91594_91603del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.44179_44188del (TTN) | ENSP00000343764.6:p.Lys14727HisfsTer21 | |
| ENST00000342175.11:c.25264_25273del (TTN) | ENSP00000340554.6:p.Lys8422HisfsTer21 | |
| ENST00000359218.10:c.25063_25072del (TTN) | ENSP00000352154.5:p.Lys8355HisfsTer21 | |
| ENST00000342175.10:c.25264_25273del (TTN) | ENSP00000340554.6:p.Lys8422HisfsTer21 | |
| ENST00000342992.10:c.44179_44188del (TTN) | ENSP00000343764.6:p.Lys14727HisfsTer21 | |
| ENST00000359218.9:c.25063_25072del (TTN) | ENSP00000352154.5:p.Lys8355HisfsTer21 | |
| ENST00000460472.6:c.24688_24697del (TTN) | ENSP00000434586.1:p.Lys8230HisfsTer21 | |
| ENST00000589042.5:c.51883_51892del (TTN) MANE Select | ENSP00000467141.1:p.Lys17295HisfsTer21 | |
| ENST00000591111.5:c.46960_46969del (TTN) | ENSP00000465570.1:p.Lys15654HisfsTer21 | |
| ENST00000615779.4:c.46960_46969del (TTN) | ENSP00000483597.1:p.Lys15654HisfsTer21 | |
| NM_001256850.1:c.46960_46969del (TTN) | NP_001243779.1:p.Lys15654HisfsTer21 | |
| NM_001267550.2:c.51883_51892del (TTN) MANE Select | NP_001254479.2:p.Lys17295HisfsTer21 | |
| NM_003319.4:c.24688_24697del (TTN) | NP_003310.4:p.Lys8230HisfsTer21 | |
| NM_133378.4:c.44179_44188del (TTN) | NP_596869.4:p.Lys14727HisfsTer21 | |
| NM_133432.3:c.25063_25072del (TTN) | NP_597676.3:p.Lys8355HisfsTer21 | |
| NM_133437.4:c.25264_25273del (TTN) | NP_597681.4:p.Lys8422HisfsTer21 | |
| NR_038271.1:n.782+1154_782+1163del (TTN-AS1) | ||
| XM_011511729.1:c.50980_50989del (TTN) | XP_011510031.1:p.Lys16994HisfsTer21 | |
| XM_011511730.1:c.24874_24883del (TTN) | XP_011510032.1:p.Lys8292HisfsTer21 | |
| XM_011511731.1:c.24733_24742del (TTN) | XP_011510033.1:p.Lys8245HisfsTer21 | |
| XM_017004819.1:c.50776_50785del (TTN) | XP_016860308.1:p.Lys16926HisfsTer21 | |
| XM_017004820.1:c.46174_46183del (TTN) | XP_016860309.1:p.Lys15392HisfsTer21 | |
| XM_017004821.1:c.46171_46180del (TTN) | XP_016860310.1:p.Lys15391HisfsTer21 | |
| XM_017004822.1:c.43213_43222del (TTN) | XP_016860311.1:p.Lys14405HisfsTer21 | |
| XM_017004823.1:c.24829_24838del (TTN) | XP_016860312.1:p.Lys8277HisfsTer21 | |
| XM_024453094.1:c.46324_46333del (TTN) | XP_024308862.1:p.Lys15442HisfsTer21 | |
| XM_024453095.1:c.46321_46330del (TTN) | XP_024308863.1:p.Lys15441HisfsTer21 | |
| XM_024453096.1:c.45754_45763del (TTN) | XP_024308864.1:p.Lys15252HisfsTer21 | |
| XM_024453097.1:c.43096_43105del (TTN) | XP_024308865.1:p.Lys14366HisfsTer21 | |
| XM_024453098.1:c.43015_43024del (TTN) | XP_024308866.1:p.Lys14339HisfsTer21 | |
| XM_024453099.1:c.24778_24787del (TTN) | XP_024308867.1:p.Lys8260HisfsTer21 | |
| XM_024453100.1:c.14632_14641del (TTN) | XP_024308868.1:p.Lys4878HisfsTer21 |