Linked Data
ClinVar Variation Id:
202468
ClinVar RCV Id:
RCV000184331
dbSNP Id:
rs794729341
MyVariant Identifiers:
chr2:g.179434701_179434702delinsCCCT (hg19)
chr2:g.178569974_178569975delinsCCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569974_178569975delinsCCCT , CM000664.2:g.178569974_178569975delinsCCCT | GRCh38 |
| NC_000002.11:g.179434701_179434702delinsCCCT , CM000664.1:g.179434701_179434702delinsCCCT | GRCh37 |
| NC_000002.10:g.179142947_179142948delinsCCCT | NCBI36 |
| NG_011618.3:g.265828_265829delinsAGGG , LRG_391:g.265828_265829delinsAGGG | |
| NG_051363.1:g.52148_52149delinsCCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.68453_68454delinsAGGG (TTN) | ENSP00000343764.6:p.Gly22818GlufsTer31 | |
| ENST00000342175.11:c.49538_49539delinsAGGG (TTN) | ENSP00000340554.6:p.Gly16513GlufsTer31 | |
| ENST00000359218.10:c.49337_49338delinsAGGG (TTN) | ENSP00000352154.5:p.Gly16446GlufsTer31 | |
| ENST00000342175.10:c.49538_49539delinsAGGG (TTN) | ENSP00000340554.6:p.Gly16513GlufsTer31 | |
| ENST00000342992.10:c.68453_68454delinsAGGG (TTN) | ENSP00000343764.6:p.Gly22818GlufsTer31 | |
| ENST00000359218.9:c.49337_49338delinsAGGG (TTN) | ENSP00000352154.5:p.Gly16446GlufsTer31 | |
| ENST00000460472.6:c.48962_48963delinsAGGG (TTN) | ENSP00000434586.1:p.Gly16321GlufsTer31 | |
| ENST00000589042.5:c.76157_76158delinsAGGG (TTN) MANE Select | ENSP00000467141.1:p.Gly25386GlufsTer31 | |
| ENST00000591111.5:c.71234_71235delinsAGGG (TTN) | ENSP00000465570.1:p.Gly23745GlufsTer31 | |
| ENST00000615779.4:c.71234_71235delinsAGGG (TTN) | ENSP00000483597.1:p.Gly23745GlufsTer31 | |
| NM_001256850.1:c.71234_71235delinsAGGG (TTN) | NP_001243779.1:p.Gly23745GlufsTer31 | |
| NM_001267550.2:c.76157_76158delinsAGGG (TTN) MANE Select | NP_001254479.2:p.Gly25386GlufsTer31 | |
| NM_003319.4:c.48962_48963delinsAGGG (TTN) | NP_003310.4:p.Gly16321GlufsTer31 | |
| NM_133378.4:c.68453_68454delinsAGGG (TTN) | NP_596869.4:p.Gly22818GlufsTer31 | |
| NM_133432.3:c.49337_49338delinsAGGG (TTN) | NP_597676.3:p.Gly16446GlufsTer31 | |
| NM_133437.4:c.49538_49539delinsAGGG (TTN) | NP_597681.4:p.Gly16513GlufsTer31 | |
| NR_038271.1:n.447-1326_447-1325delinsCCCT (TTN-AS1) | ||
| NR_038272.1:n.2044-12598_2044-12597delinsCCCT (TTN-AS1) | ||
| XM_011511729.1:c.75254_75255delinsAGGG (TTN) | XP_011510031.1:p.Gly25085GlufsTer31 | |
| XM_011511730.1:c.49148_49149delinsAGGG (TTN) | XP_011510032.1:p.Gly16383GlufsTer31 | |
| XM_011511731.1:c.49007_49008delinsAGGG (TTN) | XP_011510033.1:p.Gly16336GlufsTer31 | |
| XM_017004819.1:c.75050_75051delinsAGGG (TTN) | XP_016860308.1:p.Gly25017GlufsTer31 | |
| XM_017004820.1:c.70448_70449delinsAGGG (TTN) | XP_016860309.1:p.Gly23483GlufsTer31 | |
| XM_017004821.1:c.70445_70446delinsAGGG (TTN) | XP_016860310.1:p.Gly23482GlufsTer31 | |
| XM_017004822.1:c.67487_67488delinsAGGG (TTN) | XP_016860311.1:p.Gly22496GlufsTer31 | |
| XM_017004823.1:c.49103_49104delinsAGGG (TTN) | XP_016860312.1:p.Gly16368GlufsTer31 | |
| XM_024453094.1:c.70598_70599delinsAGGG (TTN) | XP_024308862.1:p.Gly23533GlufsTer31 | |
| XM_024453095.1:c.70595_70596delinsAGGG (TTN) | XP_024308863.1:p.Gly23532GlufsTer31 | |
| XM_024453096.1:c.70028_70029delinsAGGG (TTN) | XP_024308864.1:p.Gly23343GlufsTer31 | |
| XM_024453097.1:c.67370_67371delinsAGGG (TTN) | XP_024308865.1:p.Gly22457GlufsTer31 | |
| XM_024453098.1:c.67289_67290delinsAGGG (TTN) | XP_024308866.1:p.Gly22430GlufsTer31 | |
| XM_024453099.1:c.49052_49053delinsAGGG (TTN) | XP_024308867.1:p.Gly16351GlufsTer31 | |
| XM_024453100.1:c.38906_38907delinsAGGG (TTN) | XP_024308868.1:p.Gly12969GlufsTer31 |