gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575953_178575955dup , CM000664.2:g.178575953_178575955dup | GRCh38 |
| NC_000002.11:g.179440680_179440682dup , CM000664.1:g.179440680_179440682dup | GRCh37 |
| NC_000002.10:g.179148926_179148928dup | NCBI36 |
| NG_011618.3:g.259849_259851dup , LRG_391:g.259849_259851dup | |
| NG_051363.1:g.58127_58129dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62474_62476dup (TTN) | ENSP00000343764.6:p.Asn20825_Thr20826insAsn | |
| ENST00000342175.11:c.43559_43561dup (TTN) | ENSP00000340554.6:p.Asn14520_Thr14521insAsn | |
| ENST00000359218.10:c.43358_43360dup (TTN) | ENSP00000352154.5:p.Asn14453_Thr14454insAsn | |
| ENST00000342175.10:c.43559_43561dup (TTN) | ENSP00000340554.6:p.Asn14520_Thr14521insAsn | |
| ENST00000342992.10:c.62474_62476dup (TTN) | ENSP00000343764.6:p.Asn20825_Thr20826insAsn | |
| ENST00000359218.9:c.43358_43360dup (TTN) | ENSP00000352154.5:p.Asn14453_Thr14454insAsn | |
| ENST00000460472.6:c.42983_42985dup (TTN) | ENSP00000434586.1:p.Asn14328_Thr14329insAsn | |
| ENST00000589042.5:c.70178_70180dup (TTN) MANE Select | ENSP00000467141.1:p.Asn23393_Thr23394insAsn | |
| ENST00000591111.5:c.65255_65257dup (TTN) | ENSP00000465570.1:p.Asn21752_Thr21753insAsn | |
| ENST00000615779.4:c.65255_65257dup (TTN) | ENSP00000483597.1:p.Asn21752_Thr21753insAsn | |
| NM_001256850.1:c.65255_65257dup (TTN) | NP_001243779.1:p.Asn21752_Thr21753insAsn | |
| NM_001267550.2:c.70178_70180dup (TTN) MANE Select | NP_001254479.2:p.Asn23393_Thr23394insAsn | |
| NM_003319.4:c.42983_42985dup (TTN) | NP_003310.4:p.Asn14328_Thr14329insAsn | |
| NM_133378.4:c.62474_62476dup (TTN) | NP_596869.4:p.Asn20825_Thr20826insAsn | |
| NM_133432.3:c.43358_43360dup (TTN) | NP_597676.3:p.Asn14453_Thr14454insAsn | |
| NM_133437.4:c.43559_43561dup (TTN) | NP_597681.4:p.Asn14520_Thr14521insAsn | |
| NR_038271.1:n.596+4504_596+4506dup (TTN-AS1) | ||
| NR_038272.1:n.2044-6619_2044-6617dup (TTN-AS1) | ||
| XM_011511729.1:c.69275_69277dup (TTN) | XP_011510031.1:p.Asn23092_Thr23093insAsn | |
| XM_011511730.1:c.43169_43171dup (TTN) | XP_011510032.1:p.Asn14390_Thr14391insAsn | |
| XM_011511731.1:c.43028_43030dup (TTN) | XP_011510033.1:p.Asn14343_Thr14344insAsn | |
| XM_017004819.1:c.69071_69073dup (TTN) | XP_016860308.1:p.Asn23024_Thr23025insAsn | |
| XM_017004820.1:c.64469_64471dup (TTN) | XP_016860309.1:p.Asn21490_Thr21491insAsn | |
| XM_017004821.1:c.64466_64468dup (TTN) | XP_016860310.1:p.Asn21489_Thr21490insAsn | |
| XM_017004822.1:c.61508_61510dup (TTN) | XP_016860311.1:p.Asn20503_Thr20504insAsn | |
| XM_017004823.1:c.43124_43126dup (TTN) | XP_016860312.1:p.Asn14375_Thr14376insAsn | |
| XM_024453094.1:c.64619_64621dup (TTN) | XP_024308862.1:p.Asn21540_Thr21541insAsn | |
| XM_024453095.1:c.64616_64618dup (TTN) | XP_024308863.1:p.Asn21539_Thr21540insAsn | |
| XM_024453096.1:c.64049_64051dup (TTN) | XP_024308864.1:p.Asn21350_Thr21351insAsn | |
| XM_024453097.1:c.61391_61393dup (TTN) | XP_024308865.1:p.Asn20464_Thr20465insAsn | |
| XM_024453098.1:c.61310_61312dup (TTN) | XP_024308866.1:p.Asn20437_Thr20438insAsn | |
| XM_024453099.1:c.43073_43075dup (TTN) | XP_024308867.1:p.Asn14358_Thr14359insAsn | |
| XM_024453100.1:c.32927_32929dup (TTN) | XP_024308868.1:p.Asn10976_Thr10977insAsn |