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.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116833001_116833003dup | CA2616111356 | APOC3 | c.*117_*119dup (n.*117_*119dup) c.471_473dup (n.471_473dup) | gnomAD v4 |
| 11 | g.116833003C= | CA2002760389 | APOC3 | c.*119C= (n.*119C=) c.473C= (n.473C=) | |
| 11 | g.116833003C>G | CA2616111358 | APOC3 | c.*119C>G (n.*119C>G) c.473C>G (n.473C>G) | gnomAD v4 |
| 11 | g.116833003C>T | CA229321223 | APOC3 | c.*119C>T (n.*119C>T) c.473C>T (n.473C>T) | dbSNP gnomAD v4 |
| 11 | g.116833004C>A | CA2616111360 | APOC3 | c.*120C>A (n.*120C>A) c.474C>A (n.474C>A) | gnomAD v4 |
| 11 | g.116833004C>G | CA2616111361 | APOC3 | c.*120C>G (n.*120C>G) c.474C>G (n.474C>G) | gnomAD v4 |
| 11 | g.116833004C>T | CA2616111359 | APOC3 | c.*120C>T (n.*120C>T) c.474C>T (n.474C>T) | gnomAD v4 |
| 11 | g.116833005C>A | CA2002760390 | APOC3 | c.*121C>A (n.*121C>A) c.475C>A (n.475C>A) | dbSNP gnomAD v4 |
| 11 | g.116833005C= | CA2002760391 | APOC3 | c.*121C= (n.*121C=) c.475C= (n.475C=) | |
| 11 | g.116833006A= | CA2002760392 | APOC3 | c.*122A= (n.*122A=) c.476A= (n.476A=) | |
| 11 | g.116833006A>C | CA2002760393 | APOC3 | c.*122A>C (n.*122A>C) c.476A>C (n.476A>C) | dbSNP gnomAD v4 |
| 11 | g.116833006A>G | CA2616111362 | APOC3 | c.*122A>G (n.*122A>G) c.476A>G (n.476A>G) | gnomAD v4 |
| 11 | g.116833007C>A | CA2616111363 | APOC3 | c.*123C>A (n.*123C>A) c.477C>A (n.477C>A) | gnomAD v4 |
| 11 | g.116833007C= | CA2002760394 | APOC3 | c.*123C= (n.*123C=) c.477C= (n.477C=) | |
| 11 | g.116833007C>T | CA601826259 | APOC3 | c.*123C>T (n.*123C>T) c.477C>T (n.477C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833008C= | CA2002760395 | APOC3 | c.*124C= (n.*124C=) c.478C= (n.478C=) | |
| 11 | g.116833008C>T | CA601826261 | APOC3 | c.*124C>T (n.*124C>T) c.478C>T (n.478C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833009T>A | CA2616111364 | APOC3 | c.*125T>A (n.*125T>A) c.479T>A (n.479T>A) | gnomAD v4 |
| 11 | g.116833009T>G | CA672202410 | APOC3 | c.*125T>G (n.*125T>G) c.479T>G (n.479T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116833009T= | CA2002760396 | APOC3 | c.*125T= (n.*125T=) c.479T= (n.479T=) | |
| 11 | g.116833010C>A | CA2616111365 | APOC3 | c.*126C>A (n.*126C>A) c.480C>A (n.480C>A) | gnomAD v4 |
| 11 | g.116833011A>C | CA2616111366 | APOC3 | c.*127A>C (n.*127A>C) c.481A>C (n.481A>C) | gnomAD v4 |
| 11 | g.116833012T>C | CA2616111367 | APOC3 | c.*128T>C (n.*128T>C) c.482T>C (n.482T>C) | gnomAD v4 |
| 11 | g.116833013G= | CA2002760397 | APOC3 | c.*129G= (n.*129G=) c.483G= (n.483G=) | |
| 11 | g.116833013G>T | CA2002760398 | APOC3 | c.*129G>T (n.*129G>T) c.483G>T (n.483G>T) | dbSNP gnomAD v4 |
| 11 | g.116833014C>A | CA2002760399 | APOC3 | c.*130C>A (n.*130C>A) c.484C>A (n.484C>A) | dbSNP gnomAD v4 |
| 11 | g.116833014C= | CA2002760400 | APOC3 | c.*130C= (n.*130C=) c.484C= (n.484C=) | |
| 11 | g.116833014C>T | CA601826262 | APOC3 | c.*130C>T (n.*130C>T) c.484C>T (n.484C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116833015C>A | CA2616111368 | APOC3 | c.*131C>A (n.*131C>A) c.485C>A (n.485C>A) | gnomAD v4 |
| 11 | g.116833015C>T | CA2616111369 | APOC3 | c.*131C>T (n.*131C>T) c.485C>T (n.485C>T) | gnomAD v4 |
| 11 | g.116833016T>C | CA229321225 | APOC3 | c.*132T>C (n.*132T>C) c.486T>C (n.486T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833016T= | CA2002760401 | APOC3 | c.*132T= (n.*132T=) c.486T= (n.486T=) | |
| 11 | g.116833017G>A | CA2616111370 | APOC3 | c.*133G>A (n.*133G>A) c.487G>A (n.487G>A) | gnomAD v4 |
| 11 | g.116833017G>T | CA2616111371 | APOC3 | c.*133G>T (n.*133G>T) c.487G>T (n.487G>T) | gnomAD v4 |
| 11 | g.116833018del | CA2532754581 | APOC3 | c.*134del (n.*134del) c.488del (n.488del) | |
| 11 | g.116833018G>T | CA2616111372 | APOC3 | c.*134G>T (n.*134G>T) c.488G>T (n.488G>T) | gnomAD v4 |
| 11 | g.116833018_116833019delinsGC | CA2002760402 | APOC3 | c.*134_*135delinsGC (n.*134_*135delinsGC) c.488_489delinsGC (n.488_489delinsGC) | |
| 11 | g.116833019C>A | CA2616111375 | APOC3 | c.*135C>A (n.*135C>A) c.489C>A (n.489C>A) | gnomAD v4 |
| 11 | g.116833019C>T | CA2616111376 | APOC3 | c.*135C>T (n.*135C>T) c.489C>T (n.489C>T) | gnomAD v4 |
| 11 | g.116833024dup | CA229321226 | APOC3 | c.*140dup (n.*140dup) c.494dup (n.494dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833023_116833024dup | CA2616111373 | APOC3 | c.*139_*140dup (n.*139_*140dup) c.493_494dup (n.493_494dup) | gnomAD v4 |
| 11 | g.116833024del | CA2002760403 | APOC3 | c.*140del (n.*140del) c.494del (n.494del) | dbSNP gnomAD v4 |
| 11 | g.116833021_116833027del | CA2616111374 | APOC3 | c.*137_*143del (n.*137_*143del) c.491_497del (n.491_497del) | gnomAD v4 |
| 11 | g.116833020C>A | CA672202418 | APOC3 | c.*136C>A (n.*136C>A) c.490C>A (n.490C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833020C= | CA2002760404 | APOC3 | c.*136C= (n.*136C=) c.490C= (n.490C=) | |
| 11 | g.116833020C>G | CA2739291578 | APOC3 | c.*136C>G (n.*136C>G) c.490C>G (n.490C>G) | |
| 11 | g.116833020C>T | CA2616111377 | APOC3 | c.*136C>T (n.*136C>T) c.490C>T (n.490C>T) | gnomAD v4 |
| 11 | g.116833021C>G | CA2616111378 | APOC3 | c.*137C>G (n.*137C>G) c.491C>G (n.491C>G) | gnomAD v4 |
| 11 | g.116833021C>T | CA2725025701 | APOC3 | c.*137C>T (n.*137C>T) c.491C>T (n.491C>T) | dbSNP |