Linked Data
ClinVar Variation Id:
223324
dbSNP Id:
rs869312081
gnomAD v2:
2-179417723-ATAAT-A
gnomAD v4:
2-178552996-ATAAT-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553003_178553006del , CM000664.2:g.178553003_178553006del | GRCh38 |
| NC_000002.11:g.179417730_179417733del , CM000664.1:g.179417730_179417733del | GRCh37 |
| NC_000002.10:g.179125976_179125979del | NCBI36 |
| NG_011618.3:g.282803_282806del , LRG_391:g.282803_282806del | |
| NG_051363.1:g.35177_35180del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.82196_82199del (TTN) | ENSP00000343764.6:p.Asn27399MetfsTer27 | |
| ENST00000342175.11:c.63281_63284del (TTN) | ENSP00000340554.6:p.Asn21094MetfsTer27 | |
| ENST00000359218.10:c.63080_63083del (TTN) | ENSP00000352154.5:p.Asn21027MetfsTer27 | |
| ENST00000342175.10:c.63281_63284del (TTN) | ENSP00000340554.6:p.Asn21094MetfsTer27 | |
| ENST00000342992.10:c.82196_82199del (TTN) | ENSP00000343764.6:p.Asn27399MetfsTer27 | |
| ENST00000359218.9:c.63080_63083del (TTN) | ENSP00000352154.5:p.Asn21027MetfsTer27 | |
| ENST00000460472.6:c.62705_62708del (TTN) | ENSP00000434586.1:p.Asn20902MetfsTer27 | |
| ENST00000589042.5:c.89900_89903del (TTN) MANE Select | ENSP00000467141.1:p.Asn29967MetfsTer27 | |
| ENST00000591111.5:c.84977_84980del (TTN) | ENSP00000465570.1:p.Asn28326MetfsTer27 | |
| ENST00000615779.4:c.84977_84980del (TTN) | ENSP00000483597.1:p.Asn28326MetfsTer27 | |
| NM_001256850.1:c.84977_84980del (TTN) | NP_001243779.1:p.Asn28326MetfsTer27 | |
| NM_001267550.2:c.89900_89903del (TTN) MANE Select | NP_001254479.2:p.Asn29967MetfsTer27 | |
| NM_003319.4:c.62705_62708del (TTN) | NP_003310.4:p.Asn20902MetfsTer27 | |
| NM_133378.4:c.82196_82199del (TTN) | NP_596869.4:p.Asn27399MetfsTer27 | |
| NM_133432.3:c.63080_63083del (TTN) | NP_597676.3:p.Asn21027MetfsTer27 | |
| NM_133437.4:c.63281_63284del (TTN) | NP_597681.4:p.Asn21094MetfsTer27 | |
| NR_038271.1:n.447-18297_447-18294del (TTN-AS1) | ||
| NR_038272.1:n.2043+10642_2043+10645del (TTN-AS1) | ||
| XM_011511729.1:c.88997_89000del (TTN) | XP_011510031.1:p.Asn29666MetfsTer27 | |
| XM_011511730.1:c.62891_62894del (TTN) | XP_011510032.1:p.Asn20964MetfsTer27 | |
| XM_011511731.1:c.62750_62753del (TTN) | XP_011510033.1:p.Asn20917MetfsTer27 | |
| XM_017004819.1:c.88793_88796del (TTN) | XP_016860308.1:p.Asn29598MetfsTer27 | |
| XM_017004820.1:c.84191_84194del (TTN) | XP_016860309.1:p.Asn28064MetfsTer27 | |
| XM_017004821.1:c.84188_84191del (TTN) | XP_016860310.1:p.Asn28063MetfsTer27 | |
| XM_017004822.1:c.81230_81233del (TTN) | XP_016860311.1:p.Asn27077MetfsTer27 | |
| XM_017004823.1:c.62846_62849del (TTN) | XP_016860312.1:p.Asn20949MetfsTer27 | |
| XM_024453094.1:c.84341_84344del (TTN) | XP_024308862.1:p.Asn28114MetfsTer27 | |
| XM_024453095.1:c.84338_84341del (TTN) | XP_024308863.1:p.Asn28113MetfsTer27 | |
| XM_024453096.1:c.83771_83774del (TTN) | XP_024308864.1:p.Asn27924MetfsTer27 | |
| XM_024453097.1:c.81113_81116del (TTN) | XP_024308865.1:p.Asn27038MetfsTer27 | |
| XM_024453098.1:c.81032_81035del (TTN) | XP_024308866.1:p.Asn27011MetfsTer27 | |
| XM_024453099.1:c.62795_62798del (TTN) | XP_024308867.1:p.Asn20932MetfsTer27 | |
| XM_024453100.1:c.52649_52652del (TTN) | XP_024308868.1:p.Asn17550MetfsTer27 |