Linked Data
ClinVar Variation Id:
2014954
ClinVar RCV Id:
RCV002861742
gnomAD v4:
2-178542670-ATAACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542672_178542676del , CM000664.2:g.178542672_178542676del | GRCh38 |
| NC_000002.11:g.179407399_179407403del , CM000664.1:g.179407399_179407403del | GRCh37 |
| NC_000002.10:g.179115645_179115649del | NCBI36 |
| NG_011618.3:g.293128_293132del , LRG_391:g.293128_293132del | |
| NG_051363.1:g.24846_24850del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89475_89479del (TTN) | ENSP00000343764.6:p.Lys29825AsnfsTer4 | |
| ENST00000342175.11:c.70560_70564del (TTN) | ENSP00000340554.6:p.Lys23520AsnfsTer4 | |
| ENST00000359218.10:c.70359_70363del (TTN) | ENSP00000352154.5:p.Lys23453AsnfsTer4 | |
| ENST00000342175.10:c.70560_70564del (TTN) | ENSP00000340554.6:p.Lys23520AsnfsTer4 | |
| ENST00000342992.10:c.89475_89479del (TTN) | ENSP00000343764.6:p.Lys29825AsnfsTer4 | |
| ENST00000359218.9:c.70359_70363del (TTN) | ENSP00000352154.5:p.Lys23453AsnfsTer4 | |
| ENST00000460472.6:c.69984_69988del (TTN) | ENSP00000434586.1:p.Lys23328AsnfsTer4 | |
| ENST00000589042.5:c.97179_97183del (TTN) MANE Select | ENSP00000467141.1:p.Lys32393AsnfsTer4 | |
| ENST00000591111.5:c.92256_92260del (TTN) | ENSP00000465570.1:p.Lys30752AsnfsTer4 | |
| ENST00000615779.4:c.92256_92260del (TTN) | ENSP00000483597.1:p.Lys30752AsnfsTer4 | |
| NM_001256850.1:c.92256_92260del (TTN) | NP_001243779.1:p.Lys30752AsnfsTer4 | |
| NM_001267550.2:c.97179_97183del (TTN) MANE Select | NP_001254479.2:p.Lys32393AsnfsTer4 | |
| NM_003319.4:c.69984_69988del (TTN) | NP_003310.4:p.Lys23328AsnfsTer4 | |
| NM_133378.4:c.89475_89479del (TTN) | NP_596869.4:p.Lys29825AsnfsTer4 | |
| NM_133432.3:c.70359_70363del (TTN) | NP_597676.3:p.Lys23453AsnfsTer4 | |
| NM_133437.4:c.70560_70564del (TTN) | NP_597681.4:p.Lys23520AsnfsTer4 | |
| NR_038271.1:n.446+19036_446+19040del (TTN-AS1) | ||
| NR_038272.1:n.2043+311_2043+315del (TTN-AS1) | ||
| XM_011511729.1:c.96276_96280del (TTN) | XP_011510031.1:p.Lys32092AsnfsTer4 | |
| XM_011511730.1:c.70170_70174del (TTN) | XP_011510032.1:p.Lys23390AsnfsTer4 | |
| XM_011511731.1:c.70029_70033del (TTN) | XP_011510033.1:p.Lys23343AsnfsTer4 | |
| XM_017004819.1:c.96072_96076del (TTN) | XP_016860308.1:p.Lys32024AsnfsTer4 | |
| XM_017004820.1:c.91470_91474del (TTN) | XP_016860309.1:p.Lys30490AsnfsTer4 | |
| XM_017004821.1:c.91467_91471del (TTN) | XP_016860310.1:p.Lys30489AsnfsTer4 | |
| XM_017004822.1:c.88509_88513del (TTN) | XP_016860311.1:p.Lys29503AsnfsTer4 | |
| XM_017004823.1:c.70125_70129del (TTN) | XP_016860312.1:p.Lys23375AsnfsTer4 | |
| XM_024453094.1:c.91620_91624del (TTN) | XP_024308862.1:p.Lys30540AsnfsTer4 | |
| XM_024453095.1:c.91617_91621del (TTN) | XP_024308863.1:p.Lys30539AsnfsTer4 | |
| XM_024453096.1:c.91050_91054del (TTN) | XP_024308864.1:p.Lys30350AsnfsTer4 | |
| XM_024453097.1:c.88392_88396del (TTN) | XP_024308865.1:p.Lys29464AsnfsTer4 | |
| XM_024453098.1:c.88311_88315del (TTN) | XP_024308866.1:p.Lys29437AsnfsTer4 | |
| XM_024453099.1:c.70074_70078del (TTN) | XP_024308867.1:p.Lys23358AsnfsTer4 | |
| XM_024453100.1:c.59928_59932del (TTN) | XP_024308868.1:p.Lys19976AsnfsTer4 |