Linked Data
ClinVar Variation Id:
38441
ClinVar RCV Id:
RCV000031997
dbSNP Id:
rs281864933
PubMed:
PMID:20301498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527091_178527096del , CM000664.2:g.178527091_178527096del | GRCh38 |
| NC_000002.11:g.179391818_179391823del , CM000664.1:g.179391818_179391823del | GRCh37 |
| NC_000002.10:g.179100064_179100069del | NCBI36 |
| NG_011618.3:g.308707_308712del , LRG_391:g.308707_308712del | |
| NG_051363.1:g.9265_9270del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.100188_100193del (TTN) | ENSP00000343764.6:p.Gln33396_Gly33398deli... | |
| ENST00000342175.11:c.81273_81278del (TTN) | ENSP00000340554.6:p.Gln27091_Gly27093deli... | |
| ENST00000359218.10:c.81072_81077del (TTN) | ENSP00000352154.5:p.Gln27024_Gly27026deli... | |
| ENST00000342175.10:c.81273_81278del (TTN) | ENSP00000340554.6:p.Gln27091_Gly27093deli... | |
| ENST00000342992.10:c.100188_100193del (TTN) | ENSP00000343764.6:p.Gln33396_Gly33398deli... | |
| ENST00000359218.9:c.81072_81077del (TTN) | ENSP00000352154.5:p.Gln27024_Gly27026deli... | |
| ENST00000460472.6:c.80697_80702del (TTN) | ENSP00000434586.1:p.Gln26899_Gly26901deli... | |
| ENST00000589042.5:c.107892_107897del (TTN) MANE Select | ENSP00000467141.1:p.Gln35964_Gly35966deli... | |
| ENST00000591111.5:c.102969_102974del (TTN) | ENSP00000465570.1:p.Gln34323_Gly34325deli... | |
| ENST00000615779.4:c.102969_102974del (TTN) | ENSP00000483597.1:p.Gln34323_Gly34325deli... | |
| NM_001256850.1:c.102969_102974del (TTN) | NP_001243779.1:p.Gln34323_Gly34325delinsH... | |
| NM_001267550.2:c.107892_107897del (TTN) MANE Select | NP_001254479.2:p.Gln35964_Gly35966delinsH... | |
| NM_003319.4:c.80697_80702del (TTN) | NP_003310.4:p.Gln26899_Gly26901delinsHis | |
| NM_133378.4:c.100188_100193del (TTN) | NP_596869.4:p.Gln33396_Gly33398delinsHis | |
| NM_133432.3:c.81072_81077del (TTN) | NP_597676.3:p.Gln27024_Gly27026delinsHis | |
| NM_133437.4:c.81273_81278del (TTN) | NP_597681.4:p.Gln27091_Gly27093delinsHis | |
| NR_038271.1:n.446+3455_446+3460del (TTN-AS1) | ||
| NR_038272.1:n.219+3455_219+3460del (TTN-AS1) | ||
| XM_011511729.1:c.106989_106994del (TTN) | XP_011510031.1:p.Gln35663_Gly35665delinsH... | |
| XM_011511730.1:c.80883_80888del (TTN) | XP_011510032.1:p.Gln26961_Gly26963delinsH... | |
| XM_011511731.1:c.80742_80747del (TTN) | XP_011510033.1:p.Gln26914_Gly26916delinsH... | |
| XM_017004819.1:c.106785_106790del (TTN) | XP_016860308.1:p.Gln35595_Gly35597delinsH... | |
| XM_017004820.1:c.102183_102188del (TTN) | XP_016860309.1:p.Gln34061_Gly34063delinsH... | |
| XM_017004821.1:c.102180_102185del (TTN) | XP_016860310.1:p.Gln34060_Gly34062delinsH... | |
| XM_017004822.1:c.99222_99227del (TTN) | XP_016860311.1:p.Gln33074_Gly33076delinsH... | |
| XM_017004823.1:c.80838_80843del (TTN) | XP_016860312.1:p.Gln26946_Gly26948delinsH... | |
| XM_024453094.1:c.102333_102338del (TTN) | XP_024308862.1:p.Gln34111_Gly34113delinsH... | |
| XM_024453095.1:c.102330_102335del (TTN) | XP_024308863.1:p.Gln34110_Gly34112delinsH... | |
| XM_024453096.1:c.101763_101768del (TTN) | XP_024308864.1:p.Gln33921_Gly33923delinsH... | |
| XM_024453097.1:c.99105_99110del (TTN) | XP_024308865.1:p.Gln33035_Gly33037delinsH... | |
| XM_024453098.1:c.99024_99029del (TTN) | XP_024308866.1:p.Gln33008_Gly33010delinsH... | |
| XM_024453099.1:c.80787_80792del (TTN) | XP_024308867.1:p.Gln26929_Gly26931delinsH... | |
| XM_024453100.1:c.70641_70646del (TTN) | XP_024308868.1:p.Gln23547_Gly23549delinsH... |