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:
38439
ClinVar RCV Id:
RCV000031995
RCV000184369
RCV000844994
RCV001004988
RCV001216397
RCV002496487
RCV002415440
RCV003328160
RCV003234933
RCV004532474
dbSNP Id:
rs281864930
ExAC:
2:179391825 GT / G
gnomAD v2:
2-179391825-GT-G
gnomAD v3:
2-178527098-GT-G
gnomAD v4:
2-178527098-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527101del , CM000664.2:g.178527101del | GRCh38 |
| NC_000002.11:g.179391828del , CM000664.1:g.179391828del | GRCh37 |
| NC_000002.10:g.179100074del | NCBI36 |
| NG_011618.3:g.308704del , LRG_391:g.308704del | |
| NG_051363.1:g.9275del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.100185del (TTN) | ENSP00000343764.6:p.Lys33395AsnfsTer9 | |
| ENST00000342175.11:c.81270del (TTN) | ENSP00000340554.6:p.Lys27090AsnfsTer9 | |
| ENST00000359218.10:c.81069del (TTN) | ENSP00000352154.5:p.Lys27023AsnfsTer9 | |
| ENST00000342175.10:c.81270del (TTN) | ENSP00000340554.6:p.Lys27090AsnfsTer9 | |
| ENST00000342992.10:c.100185del (TTN) | ENSP00000343764.6:p.Lys33395AsnfsTer9 | |
| ENST00000359218.9:c.81069del (TTN) | ENSP00000352154.5:p.Lys27023AsnfsTer9 | |
| ENST00000460472.6:c.80694del (TTN) | ENSP00000434586.1:p.Lys26898AsnfsTer9 | |
| ENST00000589042.5:c.107889del (TTN) MANE Select | ENSP00000467141.1:p.Lys35963AsnfsTer9 | |
| ENST00000591111.5:c.102966del (TTN) | ENSP00000465570.1:p.Lys34322AsnfsTer9 | |
| ENST00000615779.4:c.102966del (TTN) | ENSP00000483597.1:p.Lys34322AsnfsTer9 | |
| NM_001256850.1:c.102966del (TTN) | NP_001243779.1:p.Lys34322AsnfsTer9 | |
| NM_001267550.2:c.107889del (TTN) MANE Select | NP_001254479.2:p.Lys35963AsnfsTer9 | |
| NM_003319.4:c.80694del (TTN) | NP_003310.4:p.Lys26898AsnfsTer9 | |
| NM_133378.4:c.100185del (TTN) | NP_596869.4:p.Lys33395AsnfsTer9 | |
| NM_133432.3:c.81069del (TTN) | NP_597676.3:p.Lys27023AsnfsTer9 | |
| NM_133437.4:c.81270del (TTN) | NP_597681.4:p.Lys27090AsnfsTer9 | |
| NR_038271.1:n.446+3465del (TTN-AS1) | ||
| NR_038272.1:n.219+3465del (TTN-AS1) | ||
| XM_011511729.1:c.106986del (TTN) | XP_011510031.1:p.Lys35662AsnfsTer9 | |
| XM_011511730.1:c.80880del (TTN) | XP_011510032.1:p.Lys26960AsnfsTer9 | |
| XM_011511731.1:c.80739del (TTN) | XP_011510033.1:p.Lys26913AsnfsTer9 | |
| XM_017004819.1:c.106782del (TTN) | XP_016860308.1:p.Lys35594AsnfsTer9 | |
| XM_017004820.1:c.102180del (TTN) | XP_016860309.1:p.Lys34060AsnfsTer9 | |
| XM_017004821.1:c.102177del (TTN) | XP_016860310.1:p.Lys34059AsnfsTer9 | |
| XM_017004822.1:c.99219del (TTN) | XP_016860311.1:p.Lys33073AsnfsTer9 | |
| XM_017004823.1:c.80835del (TTN) | XP_016860312.1:p.Lys26945AsnfsTer9 | |
| XM_024453094.1:c.102330del (TTN) | XP_024308862.1:p.Lys34110AsnfsTer9 | |
| XM_024453095.1:c.102327del (TTN) | XP_024308863.1:p.Lys34109AsnfsTer9 | |
| XM_024453096.1:c.101760del (TTN) | XP_024308864.1:p.Lys33920AsnfsTer9 | |
| XM_024453097.1:c.99102del (TTN) | XP_024308865.1:p.Lys33034AsnfsTer9 | |
| XM_024453098.1:c.99021del (TTN) | XP_024308866.1:p.Lys33007AsnfsTer9 | |
| XM_024453099.1:c.80784del (TTN) | XP_024308867.1:p.Lys26928AsnfsTer9 | |
| XM_024453100.1:c.70638del (TTN) | XP_024308868.1:p.Lys23546AsnfsTer9 |