WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
47498
ClinVar RCV Id:
RCV000040767
dbSNP Id:
rs397517749
PubMed:
PMID:16733766
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552314del , CM000664.2:g.178552314del | GRCh38 |
| NC_000002.11:g.179417041del , CM000664.1:g.179417041del | GRCh37 |
| NC_000002.10:g.179125287del | NCBI36 |
| NG_011618.3:g.283490del , LRG_391:g.283490del | |
| NG_051363.1:g.34488del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.82883del (TTN) | ENSP00000343764.6:p.Lys27628ArgfsTer? | |
| ENST00000342175.11:c.63968del (TTN) | ENSP00000340554.6:p.Lys21323ArgfsTer? | |
| ENST00000359218.10:c.63767del (TTN) | ENSP00000352154.5:p.Lys21256ArgfsTer? | |
| ENST00000342175.10:c.63968del (TTN) | ENSP00000340554.6:p.Lys21323ArgfsTer? | |
| ENST00000342992.10:c.82883del (TTN) | ENSP00000343764.6:p.Lys27628ArgfsTer? | |
| ENST00000359218.9:c.63767del (TTN) | ENSP00000352154.5:p.Lys21256ArgfsTer? | |
| ENST00000460472.6:c.63392del (TTN) | ENSP00000434586.1:p.Lys21131ArgfsTer? | |
| ENST00000589042.5:c.90587del (TTN) MANE Select | ENSP00000467141.1:p.Lys30196ArgfsTer? | |
| ENST00000591111.5:c.85664del (TTN) | ENSP00000465570.1:p.Lys28555ArgfsTer? | |
| ENST00000615779.4:c.85664del (TTN) | ENSP00000483597.1:p.Lys28555ArgfsTer? | |
| NM_001256850.1:c.85664del (TTN) | NP_001243779.1:p.Lys28555ArgfsTer? | |
| NM_001267550.2:c.90587del (TTN) MANE Select | NP_001254479.2:p.Lys30196ArgfsTer? | |
| NM_003319.4:c.63392del (TTN) | NP_003310.4:p.Lys21131ArgfsTer? | |
| NM_133378.4:c.82883del (TTN) | NP_596869.4:p.Lys27628ArgfsTer? | |
| NM_133432.3:c.63767del (TTN) | NP_597676.3:p.Lys21256ArgfsTer? | |
| NM_133437.4:c.63968del (TTN) | NP_597681.4:p.Lys21323ArgfsTer? | |
| NR_038271.1:n.447-18986del (TTN-AS1) | ||
| NR_038272.1:n.2043+9953del (TTN-AS1) | ||
| XM_011511729.1:c.89684del (TTN) | XP_011510031.1:p.Lys29895ArgfsTer? | |
| XM_011511730.1:c.63578del (TTN) | XP_011510032.1:p.Lys21193ArgfsTer? | |
| XM_011511731.1:c.63437del (TTN) | XP_011510033.1:p.Lys21146ArgfsTer? | |
| XM_017004819.1:c.89480del (TTN) | XP_016860308.1:p.Lys29827ArgfsTer? | |
| XM_017004820.1:c.84878del (TTN) | XP_016860309.1:p.Lys28293ArgfsTer? | |
| XM_017004821.1:c.84875del (TTN) | XP_016860310.1:p.Lys28292ArgfsTer? | |
| XM_017004822.1:c.81917del (TTN) | XP_016860311.1:p.Lys27306ArgfsTer? | |
| XM_017004823.1:c.63533del (TTN) | XP_016860312.1:p.Lys21178ArgfsTer? | |
| XM_024453094.1:c.85028del (TTN) | XP_024308862.1:p.Lys28343ArgfsTer? | |
| XM_024453095.1:c.85025del (TTN) | XP_024308863.1:p.Lys28342ArgfsTer? | |
| XM_024453096.1:c.84458del (TTN) | XP_024308864.1:p.Lys28153ArgfsTer? | |
| XM_024453097.1:c.81800del (TTN) | XP_024308865.1:p.Lys27267ArgfsTer? | |
| XM_024453098.1:c.81719del (TTN) | XP_024308866.1:p.Lys27240ArgfsTer? | |
| XM_024453099.1:c.63482del (TTN) | XP_024308867.1:p.Lys21161ArgfsTer? | |
| XM_024453100.1:c.53336del (TTN) | XP_024308868.1:p.Lys17779ArgfsTer? |