ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608332del , CM000664.2:g.178608332del | GRCh38 |
| NC_000002.11:g.179473059del , CM000664.1:g.179473059del | GRCh37 |
| NC_000002.10:g.179181304del | NCBI36 |
| NG_011618.3:g.227471del , LRG_391:g.227471del | |
| NG_051363.1:g.90506del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44847del (TTN) | ENSP00000343764.6:p.Arg14950ValfsTer7 | |
| ENST00000342175.11:c.25932del (TTN) | ENSP00000340554.6:p.Arg8645ValfsTer7 | |
| ENST00000359218.10:c.25731del (TTN) | ENSP00000352154.5:p.Arg8578ValfsTer7 | |
| ENST00000342175.10:c.25932del (TTN) | ENSP00000340554.6:p.Arg8645ValfsTer7 | |
| ENST00000342992.10:c.44847del (TTN) | ENSP00000343764.6:p.Arg14950ValfsTer7 | |
| ENST00000359218.9:c.25731del (TTN) | ENSP00000352154.5:p.Arg8578ValfsTer7 | |
| ENST00000460472.6:c.25356del (TTN) | ENSP00000434586.1:p.Arg8453ValfsTer7 | |
| ENST00000589042.5:c.52551del (TTN) MANE Select | ENSP00000467141.1:p.Arg17518ValfsTer7 | |
| ENST00000591111.5:c.47628del (TTN) | ENSP00000465570.1:p.Arg15877ValfsTer7 | |
| ENST00000615779.4:c.47628del (TTN) | ENSP00000483597.1:p.Arg15877ValfsTer7 | |
| NM_001256850.1:c.47628del (TTN) | NP_001243779.1:p.Arg15877ValfsTer7 | |
| NM_001267550.2:c.52551del (TTN) MANE Select | NP_001254479.2:p.Arg17518ValfsTer7 | |
| NM_003319.4:c.25356del (TTN) | NP_003310.4:p.Arg8453ValfsTer7 | |
| NM_133378.4:c.44847del (TTN) | NP_596869.4:p.Arg14950ValfsTer7 | |
| NM_133432.3:c.25731del (TTN) | NP_597676.3:p.Arg8578ValfsTer7 | |
| NM_133437.4:c.25932del (TTN) | NP_597681.4:p.Arg8645ValfsTer7 | |
| NR_038271.1:n.782+66del (TTN-AS1) | ||
| XM_011511729.1:c.51648del (TTN) | XP_011510031.1:p.Arg17217ValfsTer7 | |
| XM_011511730.1:c.25542del (TTN) | XP_011510032.1:p.Arg8515ValfsTer7 | |
| XM_011511731.1:c.25401del (TTN) | XP_011510033.1:p.Arg8468ValfsTer7 | |
| XM_017004819.1:c.51444del (TTN) | XP_016860308.1:p.Arg17149ValfsTer7 | |
| XM_017004820.1:c.46842del (TTN) | XP_016860309.1:p.Arg15615ValfsTer7 | |
| XM_017004821.1:c.46839del (TTN) | XP_016860310.1:p.Arg15614ValfsTer7 | |
| XM_017004822.1:c.43881del (TTN) | XP_016860311.1:p.Arg14628ValfsTer7 | |
| XM_017004823.1:c.25497del (TTN) | XP_016860312.1:p.Arg8500ValfsTer7 | |
| XM_024453094.1:c.46992del (TTN) | XP_024308862.1:p.Arg15665ValfsTer7 | |
| XM_024453095.1:c.46989del (TTN) | XP_024308863.1:p.Arg15664ValfsTer7 | |
| XM_024453096.1:c.46422del (TTN) | XP_024308864.1:p.Arg15475ValfsTer7 | |
| XM_024453097.1:c.43764del (TTN) | XP_024308865.1:p.Arg14589ValfsTer7 | |
| XM_024453098.1:c.43683del (TTN) | XP_024308866.1:p.Arg14562ValfsTer7 | |
| XM_024453099.1:c.25446del (TTN) | XP_024308867.1:p.Arg8483ValfsTer7 | |
| XM_024453100.1:c.15300del (TTN) | XP_024308868.1:p.Arg5101ValfsTer7 |