Linked Data
ClinVar Variation Id:
405054
ClinVar RCV Id:
RCV000476613
dbSNP Id:
rs1060500544
gnomAD v2:
2-179409182-CTG-C
gnomAD v4:
2-178544455-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544459_178544460del , CM000664.2:g.178544459_178544460del | GRCh38 |
| NC_000002.11:g.179409186_179409187del , CM000664.1:g.179409186_179409187del | GRCh37 |
| NC_000002.10:g.179117432_179117433del | NCBI36 |
| NG_011618.3:g.291346_291347del , LRG_391:g.291346_291347del | |
| NG_051363.1:g.26633_26634del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.88068_88069del (TTN) | ENSP00000343764.6:p.His29356GlnfsTer3 | |
| ENST00000342175.11:c.69153_69154del (TTN) | ENSP00000340554.6:p.His23051GlnfsTer3 | |
| ENST00000359218.10:c.68952_68953del (TTN) | ENSP00000352154.5:p.His22984GlnfsTer3 | |
| ENST00000342175.10:c.69153_69154del (TTN) | ENSP00000340554.6:p.His23051GlnfsTer3 | |
| ENST00000342992.10:c.88068_88069del (TTN) | ENSP00000343764.6:p.His29356GlnfsTer3 | |
| ENST00000359218.9:c.68952_68953del (TTN) | ENSP00000352154.5:p.His22984GlnfsTer3 | |
| ENST00000460472.6:c.68577_68578del (TTN) | ENSP00000434586.1:p.His22859GlnfsTer3 | |
| ENST00000589042.5:c.95772_95773del (TTN) MANE Select | ENSP00000467141.1:p.His31924GlnfsTer3 | |
| ENST00000591111.5:c.90849_90850del (TTN) | ENSP00000465570.1:p.His30283GlnfsTer3 | |
| ENST00000615779.4:c.90849_90850del (TTN) | ENSP00000483597.1:p.His30283GlnfsTer3 | |
| NM_001256850.1:c.90849_90850del (TTN) | NP_001243779.1:p.His30283GlnfsTer3 | |
| NM_001267550.2:c.95772_95773del (TTN) MANE Select | NP_001254479.2:p.His31924GlnfsTer3 | |
| NM_003319.4:c.68577_68578del (TTN) | NP_003310.4:p.His22859GlnfsTer3 | |
| NM_133378.4:c.88068_88069del (TTN) | NP_596869.4:p.His29356GlnfsTer3 | |
| NM_133432.3:c.68952_68953del (TTN) | NP_597676.3:p.His22984GlnfsTer3 | |
| NM_133437.4:c.69153_69154del (TTN) | NP_597681.4:p.His23051GlnfsTer3 | |
| NR_038271.1:n.446+20823_446+20824del (TTN-AS1) | ||
| NR_038272.1:n.2043+2098_2043+2099del (TTN-AS1) | ||
| XM_011511729.1:c.94869_94870del (TTN) | XP_011510031.1:p.His31623GlnfsTer3 | |
| XM_011511730.1:c.68763_68764del (TTN) | XP_011510032.1:p.His22921GlnfsTer3 | |
| XM_011511731.1:c.68622_68623del (TTN) | XP_011510033.1:p.His22874GlnfsTer3 | |
| XM_017004819.1:c.94665_94666del (TTN) | XP_016860308.1:p.His31555GlnfsTer3 | |
| XM_017004820.1:c.90063_90064del (TTN) | XP_016860309.1:p.His30021GlnfsTer3 | |
| XM_017004821.1:c.90060_90061del (TTN) | XP_016860310.1:p.His30020GlnfsTer3 | |
| XM_017004822.1:c.87102_87103del (TTN) | XP_016860311.1:p.His29034GlnfsTer3 | |
| XM_017004823.1:c.68718_68719del (TTN) | XP_016860312.1:p.His22906GlnfsTer3 | |
| XM_024453094.1:c.90213_90214del (TTN) | XP_024308862.1:p.His30071GlnfsTer3 | |
| XM_024453095.1:c.90210_90211del (TTN) | XP_024308863.1:p.His30070GlnfsTer3 | |
| XM_024453096.1:c.89643_89644del (TTN) | XP_024308864.1:p.His29881GlnfsTer3 | |
| XM_024453097.1:c.86985_86986del (TTN) | XP_024308865.1:p.His28995GlnfsTer3 | |
| XM_024453098.1:c.86904_86905del (TTN) | XP_024308866.1:p.His28968GlnfsTer3 | |
| XM_024453099.1:c.68667_68668del (TTN) | XP_024308867.1:p.His22889GlnfsTer3 | |
| XM_024453100.1:c.58521_58522del (TTN) | XP_024308868.1:p.His19507GlnfsTer3 |