Linked Data
ClinVar Variation Id:
180582
ClinVar RCV Id:
RCV000157578
RCV000226470
RCV000584782
RCV000727747
RCV001333492
RCV001198087
RCV001798528
RCV002469030
RCV002408710
dbSNP Id:
rs573843615
ExAC:
2:179395825 CAGA / C
gnomAD v2:
2-179395825-CAGA-C
gnomAD v3:
2-178531098-CAGA-C
gnomAD v4:
2-178531098-CAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531101_178531103del , CM000664.2:g.178531101_178531103del | GRCh38 |
| NC_000002.11:g.179395828_179395830del , CM000664.1:g.179395828_179395830del | GRCh37 |
| NC_000002.10:g.179104074_179104076del | NCBI36 |
| NG_011618.3:g.304702_304704del , LRG_391:g.304702_304704del | |
| NG_051363.1:g.13275_13277del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97810_97812del (TTN) | ENSP00000343764.6:p.Ser32604del | |
| ENST00000342175.11:c.78895_78897del (TTN) | ENSP00000340554.6:p.Ser26299del | |
| ENST00000359218.10:c.78694_78696del (TTN) | ENSP00000352154.5:p.Ser26232del | |
| ENST00000342175.10:c.78895_78897del (TTN) | ENSP00000340554.6:p.Ser26299del | |
| ENST00000342992.10:c.97810_97812del (TTN) | ENSP00000343764.6:p.Ser32604del | |
| ENST00000359218.9:c.78694_78696del (TTN) | ENSP00000352154.5:p.Ser26232del | |
| ENST00000460472.6:c.78319_78321del (TTN) | ENSP00000434586.1:p.Ser26107del | |
| ENST00000589042.5:c.105514_105516del (TTN) MANE Select | ENSP00000467141.1:p.Ser35172del | |
| ENST00000591111.5:c.100591_100593del (TTN) | ENSP00000465570.1:p.Ser33531del | |
| ENST00000615779.4:c.100591_100593del (TTN) | ENSP00000483597.1:p.Ser33531del | |
| NM_001256850.1:c.100591_100593del (TTN) | NP_001243779.1:p.Ser33531del | |
| NM_001267550.2:c.105514_105516del (TTN) MANE Select | NP_001254479.2:p.Ser35172del | |
| NM_003319.4:c.78319_78321del (TTN) | NP_003310.4:p.Ser26107del | |
| NM_133378.4:c.97810_97812del (TTN) | NP_596869.4:p.Ser32604del | |
| NM_133432.3:c.78694_78696del (TTN) | NP_597676.3:p.Ser26232del | |
| NM_133437.4:c.78895_78897del (TTN) | NP_597681.4:p.Ser26299del | |
| NR_038271.1:n.446+7465_446+7467del (TTN-AS1) | ||
| NR_038272.1:n.220-4631_220-4629del (TTN-AS1) | ||
| XM_011511729.1:c.104611_104613del (TTN) | XP_011510031.1:p.Ser34871del | |
| XM_011511730.1:c.78505_78507del (TTN) | XP_011510032.1:p.Ser26169del | |
| XM_011511731.1:c.78364_78366del (TTN) | XP_011510033.1:p.Ser26122del | |
| XM_017004819.1:c.104407_104409del (TTN) | XP_016860308.1:p.Ser34803del | |
| XM_017004820.1:c.99805_99807del (TTN) | XP_016860309.1:p.Ser33269del | |
| XM_017004821.1:c.99802_99804del (TTN) | XP_016860310.1:p.Ser33268del | |
| XM_017004822.1:c.96844_96846del (TTN) | XP_016860311.1:p.Ser32282del | |
| XM_017004823.1:c.78460_78462del (TTN) | XP_016860312.1:p.Ser26154del | |
| XM_024453094.1:c.99955_99957del (TTN) | XP_024308862.1:p.Ser33319del | |
| XM_024453095.1:c.99952_99954del (TTN) | XP_024308863.1:p.Ser33318del | |
| XM_024453096.1:c.99385_99387del (TTN) | XP_024308864.1:p.Ser33129del | |
| XM_024453097.1:c.96727_96729del (TTN) | XP_024308865.1:p.Ser32243del | |
| XM_024453098.1:c.96646_96648del (TTN) | XP_024308866.1:p.Ser32216del | |
| XM_024453099.1:c.78409_78411del (TTN) | XP_024308867.1:p.Ser26137del | |
| XM_024453100.1:c.68263_68265del (TTN) | XP_024308868.1:p.Ser22755del |