Linked Data
dbSNP Id:
rs774682538
ExAC:
2:179395317 TA / T
gnomAD v2:
2-179395317-TA-T
gnomAD v4:
2-178530590-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530591del , CM000664.2:g.178530591del | GRCh38 |
| NC_000002.11:g.179395318del , CM000664.1:g.179395318del | GRCh37 |
| NC_000002.10:g.179103564del | NCBI36 |
| NG_011618.3:g.305212del , LRG_391:g.305212del | |
| NG_051363.1:g.12765del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98320del (TTN) | ENSP00000343764.6:p.Tyr32774MetfsTer? | |
| ENST00000342175.11:c.79405del (TTN) | ENSP00000340554.6:p.Tyr26469MetfsTer? | |
| ENST00000359218.10:c.79204del (TTN) | ENSP00000352154.5:p.Tyr26402MetfsTer? | |
| ENST00000342175.10:c.79405del (TTN) | ENSP00000340554.6:p.Tyr26469MetfsTer? | |
| ENST00000342992.10:c.98320del (TTN) | ENSP00000343764.6:p.Tyr32774MetfsTer? | |
| ENST00000359218.9:c.79204del (TTN) | ENSP00000352154.5:p.Tyr26402MetfsTer? | |
| ENST00000460472.6:c.78829del (TTN) | ENSP00000434586.1:p.Tyr26277MetfsTer? | |
| ENST00000589042.5:c.106024del (TTN) MANE Select | ENSP00000467141.1:p.Tyr35342MetfsTer? | |
| ENST00000591111.5:c.101101del (TTN) | ENSP00000465570.1:p.Tyr33701MetfsTer? | |
| ENST00000615779.4:c.101101del (TTN) | ENSP00000483597.1:p.Tyr33701MetfsTer? | |
| NM_001256850.1:c.101101del (TTN) | NP_001243779.1:p.Tyr33701MetfsTer? | |
| NM_001267550.2:c.106024del (TTN) MANE Select | NP_001254479.2:p.Tyr35342MetfsTer? | |
| NM_003319.4:c.78829del (TTN) | NP_003310.4:p.Tyr26277MetfsTer? | |
| NM_133378.4:c.98320del (TTN) | NP_596869.4:p.Tyr32774MetfsTer? | |
| NM_133432.3:c.79204del (TTN) | NP_597676.3:p.Tyr26402MetfsTer? | |
| NM_133437.4:c.79405del (TTN) | NP_597681.4:p.Tyr26469MetfsTer? | |
| NR_038271.1:n.446+6955del (TTN-AS1) | ||
| NR_038272.1:n.220-5141del (TTN-AS1) | ||
| XM_011511729.1:c.105121del (TTN) | XP_011510031.1:p.Tyr35041MetfsTer? | |
| XM_011511730.1:c.79015del (TTN) | XP_011510032.1:p.Tyr26339MetfsTer? | |
| XM_011511731.1:c.78874del (TTN) | XP_011510033.1:p.Tyr26292MetfsTer? | |
| XM_017004819.1:c.104917del (TTN) | XP_016860308.1:p.Tyr34973MetfsTer? | |
| XM_017004820.1:c.100315del (TTN) | XP_016860309.1:p.Tyr33439MetfsTer? | |
| XM_017004821.1:c.100312del (TTN) | XP_016860310.1:p.Tyr33438MetfsTer? | |
| XM_017004822.1:c.97354del (TTN) | XP_016860311.1:p.Tyr32452MetfsTer? | |
| XM_017004823.1:c.78970del (TTN) | XP_016860312.1:p.Tyr26324MetfsTer? | |
| XM_024453094.1:c.100465del (TTN) | XP_024308862.1:p.Tyr33489MetfsTer? | |
| XM_024453095.1:c.100462del (TTN) | XP_024308863.1:p.Tyr33488MetfsTer? | |
| XM_024453096.1:c.99895del (TTN) | XP_024308864.1:p.Tyr33299MetfsTer? | |
| XM_024453097.1:c.97237del (TTN) | XP_024308865.1:p.Tyr32413MetfsTer? | |
| XM_024453098.1:c.97156del (TTN) | XP_024308866.1:p.Tyr32386MetfsTer? | |
| XM_024453099.1:c.78919del (TTN) | XP_024308867.1:p.Tyr26307MetfsTer? | |
| XM_024453100.1:c.68773del (TTN) | XP_024308868.1:p.Tyr22925MetfsTer? |