Linked Data
ClinVar Variation Id:
290473
dbSNP Id:
rs772807300
ExAC:
2:179412466 ACACCAG / A
gnomAD v2:
2-179412466-ACACCAG-A
gnomAD v3:
2-178547739-ACACCAG-A
gnomAD v4:
2-178547739-ACACCAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547741_178547746del , CM000664.2:g.178547741_178547746del | GRCh38 |
| NC_000002.11:g.179412468_179412473del , CM000664.1:g.179412468_179412473del | GRCh37 |
| NC_000002.10:g.179120714_179120719del | NCBI36 |
| NG_011618.3:g.288058_288063del , LRG_391:g.288058_288063del | |
| NG_051363.1:g.29915_29920del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86177_86182del (TTN) | ENSP00000343764.6:p.Ala28726_Gly28727del | |
| ENST00000342175.11:c.67262_67267del (TTN) | ENSP00000340554.6:p.Ala22421_Gly22422del | |
| ENST00000359218.10:c.67061_67066del (TTN) | ENSP00000352154.5:p.Ala22354_Gly22355del | |
| ENST00000342175.10:c.67262_67267del (TTN) | ENSP00000340554.6:p.Ala22421_Gly22422del | |
| ENST00000342992.10:c.86177_86182del (TTN) | ENSP00000343764.6:p.Ala28726_Gly28727del | |
| ENST00000359218.9:c.67061_67066del (TTN) | ENSP00000352154.5:p.Ala22354_Gly22355del | |
| ENST00000460472.6:c.66686_66691del (TTN) | ENSP00000434586.1:p.Ala22229_Gly22230del | |
| ENST00000589042.5:c.93881_93886del (TTN) MANE Select | ENSP00000467141.1:p.Ala31294_Gly31295del | |
| ENST00000591111.5:c.88958_88963del (TTN) | ENSP00000465570.1:p.Ala29653_Gly29654del | |
| ENST00000615779.4:c.88958_88963del (TTN) | ENSP00000483597.1:p.Ala29653_Gly29654del | |
| NM_001256850.1:c.88958_88963del (TTN) | NP_001243779.1:p.Ala29653_Gly29654del | |
| NM_001267550.2:c.93881_93886del (TTN) MANE Select | NP_001254479.2:p.Ala31294_Gly31295del | |
| NM_003319.4:c.66686_66691del (TTN) | NP_003310.4:p.Ala22229_Gly22230del | |
| NM_133378.4:c.86177_86182del (TTN) | NP_596869.4:p.Ala28726_Gly28727del | |
| NM_133432.3:c.67061_67066del (TTN) | NP_597676.3:p.Ala22354_Gly22355del | |
| NM_133437.4:c.67262_67267del (TTN) | NP_597681.4:p.Ala22421_Gly22422del | |
| NR_038271.1:n.447-23559_447-23554del (TTN-AS1) | ||
| NR_038272.1:n.2043+5380_2043+5385del (TTN-AS1) | ||
| XM_011511729.1:c.92978_92983del (TTN) | XP_011510031.1:p.Ala30993_Gly30994del | |
| XM_011511730.1:c.66872_66877del (TTN) | XP_011510032.1:p.Ala22291_Gly22292del | |
| XM_011511731.1:c.66731_66736del (TTN) | XP_011510033.1:p.Ala22244_Gly22245del | |
| XM_017004819.1:c.92774_92779del (TTN) | XP_016860308.1:p.Ala30925_Gly30926del | |
| XM_017004820.1:c.88172_88177del (TTN) | XP_016860309.1:p.Ala29391_Gly29392del | |
| XM_017004821.1:c.88169_88174del (TTN) | XP_016860310.1:p.Ala29390_Gly29391del | |
| XM_017004822.1:c.85211_85216del (TTN) | XP_016860311.1:p.Ala28404_Gly28405del | |
| XM_017004823.1:c.66827_66832del (TTN) | XP_016860312.1:p.Ala22276_Gly22277del | |
| XM_024453094.1:c.88322_88327del (TTN) | XP_024308862.1:p.Ala29441_Gly29442del | |
| XM_024453095.1:c.88319_88324del (TTN) | XP_024308863.1:p.Ala29440_Gly29441del | |
| XM_024453096.1:c.87752_87757del (TTN) | XP_024308864.1:p.Ala29251_Gly29252del | |
| XM_024453097.1:c.85094_85099del (TTN) | XP_024308865.1:p.Ala28365_Gly28366del | |
| XM_024453098.1:c.85013_85018del (TTN) | XP_024308866.1:p.Ala28338_Gly28339del | |
| XM_024453099.1:c.66776_66781del (TTN) | XP_024308867.1:p.Ala22259_Gly22260del | |
| XM_024453100.1:c.56630_56635del (TTN) | XP_024308868.1:p.Ala18877_Gly18878del |