Linked Data
ClinVar Variation Id:
242624
dbSNP Id:
rs727504482
gnomAD v3:
2-178530595-AC-A
gnomAD v4:
2-178530595-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530597del , CM000664.2:g.178530597del | GRCh38 |
| NC_000002.11:g.179395324del , CM000664.1:g.179395324del | GRCh37 |
| NC_000002.10:g.179103570del | NCBI36 |
| NG_011618.3:g.305207del , LRG_391:g.305207del | |
| NG_051363.1:g.12771del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98315del (TTN) | ENSP00000343764.6:p.Gly32772ValfsTer? | |
| ENST00000342175.11:c.79400del (TTN) | ENSP00000340554.6:p.Gly26467ValfsTer? | |
| ENST00000359218.10:c.79199del (TTN) | ENSP00000352154.5:p.Gly26400ValfsTer? | |
| ENST00000342175.10:c.79400del (TTN) | ENSP00000340554.6:p.Gly26467ValfsTer? | |
| ENST00000342992.10:c.98315del (TTN) | ENSP00000343764.6:p.Gly32772ValfsTer? | |
| ENST00000359218.9:c.79199del (TTN) | ENSP00000352154.5:p.Gly26400ValfsTer? | |
| ENST00000460472.6:c.78824del (TTN) | ENSP00000434586.1:p.Gly26275ValfsTer? | |
| ENST00000589042.5:c.106019del (TTN) MANE Select | ENSP00000467141.1:p.Gly35340ValfsTer? | |
| ENST00000591111.5:c.101096del (TTN) | ENSP00000465570.1:p.Gly33699ValfsTer? | |
| ENST00000615779.4:c.101096del (TTN) | ENSP00000483597.1:p.Gly33699ValfsTer? | |
| NM_001256850.1:c.101096del (TTN) | NP_001243779.1:p.Gly33699ValfsTer? | |
| NM_001267550.2:c.106019del (TTN) MANE Select | NP_001254479.2:p.Gly35340ValfsTer? | |
| NM_003319.4:c.78824del (TTN) | NP_003310.4:p.Gly26275ValfsTer? | |
| NM_133378.4:c.98315del (TTN) | NP_596869.4:p.Gly32772ValfsTer? | |
| NM_133432.3:c.79199del (TTN) | NP_597676.3:p.Gly26400ValfsTer? | |
| NM_133437.4:c.79400del (TTN) | NP_597681.4:p.Gly26467ValfsTer? | |
| NR_038271.1:n.446+6961del (TTN-AS1) | ||
| NR_038272.1:n.220-5135del (TTN-AS1) | ||
| XM_011511729.1:c.105116del (TTN) | XP_011510031.1:p.Gly35039ValfsTer? | |
| XM_011511730.1:c.79010del (TTN) | XP_011510032.1:p.Gly26337ValfsTer? | |
| XM_011511731.1:c.78869del (TTN) | XP_011510033.1:p.Gly26290ValfsTer? | |
| XM_017004819.1:c.104912del (TTN) | XP_016860308.1:p.Gly34971ValfsTer? | |
| XM_017004820.1:c.100310del (TTN) | XP_016860309.1:p.Gly33437ValfsTer? | |
| XM_017004821.1:c.100307del (TTN) | XP_016860310.1:p.Gly33436ValfsTer? | |
| XM_017004822.1:c.97349del (TTN) | XP_016860311.1:p.Gly32450ValfsTer? | |
| XM_017004823.1:c.78965del (TTN) | XP_016860312.1:p.Gly26322ValfsTer? | |
| XM_024453094.1:c.100460del (TTN) | XP_024308862.1:p.Gly33487ValfsTer? | |
| XM_024453095.1:c.100457del (TTN) | XP_024308863.1:p.Gly33486ValfsTer? | |
| XM_024453096.1:c.99890del (TTN) | XP_024308864.1:p.Gly33297ValfsTer? | |
| XM_024453097.1:c.97232del (TTN) | XP_024308865.1:p.Gly32411ValfsTer? | |
| XM_024453098.1:c.97151del (TTN) | XP_024308866.1:p.Gly32384ValfsTer? | |
| XM_024453099.1:c.78914del (TTN) | XP_024308867.1:p.Gly26305ValfsTer? | |
| XM_024453100.1:c.68768del (TTN) | XP_024308868.1:p.Gly22923ValfsTer? |