UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
223384
ClinVar RCV Id:
RCV001853343
dbSNP Id:
rs869312117
gnomAD v4:
2-178568033-GTTTC-G
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568041_178568044del , CM000664.2:g.178568041_178568044del | GRCh38 |
| NC_000002.11:g.179432768_179432771del , CM000664.1:g.179432768_179432771del | GRCh37 |
| NC_000002.10:g.179141014_179141017del | NCBI36 |
| NG_011618.3:g.267766_267769del , LRG_391:g.267766_267769del | |
| NG_051363.1:g.50215_50218del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.70391_70394del (TTN) | ENSP00000343764.6:p.Arg23464ThrfsTer? | |
| ENST00000342175.11:c.51476_51479del (TTN) | ENSP00000340554.6:p.Arg17159ThrfsTer? | |
| ENST00000359218.10:c.51275_51278del (TTN) | ENSP00000352154.5:p.Arg17092ThrfsTer? | |
| ENST00000342175.10:c.51476_51479del (TTN) | ENSP00000340554.6:p.Arg17159ThrfsTer? | |
| ENST00000342992.10:c.70391_70394del (TTN) | ENSP00000343764.6:p.Arg23464ThrfsTer? | |
| ENST00000359218.9:c.51275_51278del (TTN) | ENSP00000352154.5:p.Arg17092ThrfsTer? | |
| ENST00000460472.6:c.50900_50903del (TTN) | ENSP00000434586.1:p.Arg16967ThrfsTer? | |
| ENST00000589042.5:c.78095_78098del (TTN) MANE Select | ENSP00000467141.1:p.Arg26032ThrfsTer? | |
| ENST00000591111.5:c.73172_73175del (TTN) | ENSP00000465570.1:p.Arg24391ThrfsTer? | |
| ENST00000615779.4:c.73172_73175del (TTN) | ENSP00000483597.1:p.Arg24391ThrfsTer? | |
| NM_001256850.1:c.73172_73175del (TTN) | NP_001243779.1:p.Arg24391ThrfsTer? | |
| NM_001267550.2:c.78095_78098del (TTN) MANE Select | NP_001254479.2:p.Arg26032ThrfsTer? | |
| NM_003319.4:c.50900_50903del (TTN) | NP_003310.4:p.Arg16967ThrfsTer? | |
| NM_133378.4:c.70391_70394del (TTN) | NP_596869.4:p.Arg23464ThrfsTer? | |
| NM_133432.3:c.51275_51278del (TTN) | NP_597676.3:p.Arg17092ThrfsTer? | |
| NM_133437.4:c.51476_51479del (TTN) | NP_597681.4:p.Arg17159ThrfsTer? | |
| NR_038271.1:n.447-3259_447-3256del (TTN-AS1) | ||
| NR_038272.1:n.2044-14531_2044-14528del (TTN-AS1) | ||
| XM_011511729.1:c.77192_77195del (TTN) | XP_011510031.1:p.Arg25731ThrfsTer? | |
| XM_011511730.1:c.51086_51089del (TTN) | XP_011510032.1:p.Arg17029ThrfsTer? | |
| XM_011511731.1:c.50945_50948del (TTN) | XP_011510033.1:p.Arg16982ThrfsTer? | |
| XM_017004819.1:c.76988_76991del (TTN) | XP_016860308.1:p.Arg25663ThrfsTer? | |
| XM_017004820.1:c.72386_72389del (TTN) | XP_016860309.1:p.Arg24129ThrfsTer? | |
| XM_017004821.1:c.72383_72386del (TTN) | XP_016860310.1:p.Arg24128ThrfsTer? | |
| XM_017004822.1:c.69425_69428del (TTN) | XP_016860311.1:p.Arg23142ThrfsTer? | |
| XM_017004823.1:c.51041_51044del (TTN) | XP_016860312.1:p.Arg17014ThrfsTer? | |
| XM_024453094.1:c.72536_72539del (TTN) | XP_024308862.1:p.Arg24179ThrfsTer? | |
| XM_024453095.1:c.72533_72536del (TTN) | XP_024308863.1:p.Arg24178ThrfsTer? | |
| XM_024453096.1:c.71966_71969del (TTN) | XP_024308864.1:p.Arg23989ThrfsTer? | |
| XM_024453097.1:c.69308_69311del (TTN) | XP_024308865.1:p.Arg23103ThrfsTer? | |
| XM_024453098.1:c.69227_69230del (TTN) | XP_024308866.1:p.Arg23076ThrfsTer? | |
| XM_024453099.1:c.50990_50993del (TTN) | XP_024308867.1:p.Arg16997ThrfsTer? | |
| XM_024453100.1:c.40844_40847del (TTN) | XP_024308868.1:p.Arg13615ThrfsTer? |