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.116833021_116833027del | CA2616111374 | APOC3 | c.*137_*143del (n.*137_*143del) c.491_497del (n.491_497del) | gnomAD v4 |
| 11 | g.116833025T>A | CA2616111381 | APOC3 | c.*141T>A (n.*141T>A) c.495T>A (n.495T>A) | gnomAD v4 |
| 11 | g.116833025T>C | CA2616111382 | APOC3 | c.*141T>C (n.*141T>C) c.495T>C (n.495T>C) | gnomAD v4 |
| 11 | g.116833026C>T | CA2616111384 | APOC3 | c.*142C>T (n.*142C>T) c.496C>T (n.496C>T) | gnomAD v4 |
| 11 | g.116833027del | CA2616111383 | APOC3 | c.*143del (n.*143del) c.497del (n.497del) | gnomAD v4 |
| 11 | g.116833027C>A | CA2616111385 | APOC3 | c.*143C>A (n.*143C>A) c.497C>A (n.497C>A) | gnomAD v4 |
| 11 | g.116833028A= | CA2002760409 | APOC3 | c.*144A= (n.*144A=) c.498A= (n.498A=) | |
| 11 | g.116833028A>G | CA672202438 | APOC3 | c.*144A>G (n.*144A>G) c.498A>G (n.498A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116833029G>T | CA2616111386 | APOC3 | c.*145G>T (n.*145G>T) c.499G>T (n.499G>T) | gnomAD v4 |
| 11 | g.116833030G>A | CA2616111387 | APOC3 | c.*146G>A (n.*146G>A) c.500G>A (n.500G>A) | gnomAD v4 |
| 11 | g.116833030G>T | CA2616111388 | APOC3 | c.*146G>T (n.*146G>T) c.500G>T (n.500G>T) | gnomAD v4 |
| 11 | g.116833031C>A | CA2616111389 | APOC3 | c.*147C>A (n.*147C>A) c.501C>A (n.501C>A) | gnomAD v4 |
| 11 | g.116833031C= | CA2002760410 | APOC3 | c.*147C= (n.*147C=) c.501C= (n.501C=) | |
| 11 | g.116833031C>G | CA2002760411 | APOC3 | c.*147C>G (n.*147C>G) c.501C>G (n.501C>G) | dbSNP |
| 11 | g.116833032A= | CA2002760412 | APOC3 | c.*148A= (n.*148A=) c.502A= (n.502A=) | |
| 11 | g.116833032A>C | CA601826266 | APOC3 | c.*148A>C (n.*148A>C) c.502A>C (n.502A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833032A>G | CA2616111390 | APOC3 | c.*148A>G (n.*148A>G) c.502A>G (n.502A>G) | gnomAD v4 |
| 11 | g.116833033T>A | CA229321235 | APOC3 | c.*149T>A (n.*149T>A) c.503T>A (n.503T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833033T>C | CA2581038211 | APOC3 | c.*149T>C (n.*149T>C) c.503T>C (n.503T>C) | gnomAD v4 |
| 11 | g.116833033T>G | CA2581038212 | APOC3 | c.*149T>G (n.*149T>G) c.503T>G (n.503T>G) | |
| 11 | g.116833033T= | CA2002760413 | APOC3 | c.*149T= (n.*149T=) c.503T= (n.503T=) | |
| 11 | g.116833034G>T | CA2616111391 | APOC3 | c.*150G>T (n.*150G>T) c.504G>T (n.504G>T) | gnomAD v4 |
| 11 | g.116833034_116833035insAGGTGGGGTAGGAGAGCA | CA2616111392 | APOC3 | c.*150_*151insAGGTGGGGTAGGAGAGCA (n.*150_*151insAGGTGGGGTAGGAGAGCA) c.504_505insAGGTGGGGTAGGAGAGCA (n.504_505insAGGTGGGGTAGGAGAGCA) | gnomAD v4 |
| 11 | g.116833035C>A | CA2616111393 | APOC3 | c.*151C>A (n.*151C>A) c.505C>A (n.505C>A) | gnomAD v4 |
| 11 | g.116833035C= | CA2002760414 | APOC3 | c.*151C= (n.*151C=) c.505C= (n.505C=) | |
| 11 | g.116833035C>G | CA229321236 | APOC3 | c.*151C>G (n.*151C>G) c.505C>G (n.505C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116833035C>T | CA229321245 | APOC3 | c.*151C>T (n.*151C>T) c.505C>T (n.505C>T) | dbSNP gnomAD v4 |
| 11 | g.116833037G>T | CA2616111394 | APOC3 | c.*153G>T (n.*153G>T) c.507G>T (n.507G>T) | gnomAD v4 |
| 11 | g.116833038G>A | CA2616111395 | APOC3 | c.*154G>A (n.*154G>A) c.508G>A (n.508G>A) | gnomAD v4 |
| 11 | g.116833038G>C | CA2725025723 | APOC3 | c.*154G>C (n.*154G>C) c.508G>C (n.508G>C) | dbSNP |
| 11 | g.116833038G>T | CA2616111396 | APOC3 | c.*154G>T (n.*154G>T) c.508G>T (n.508G>T) | gnomAD v4 |
| 11 | g.116833039C>A | CA2616111398 | APOC3 | c.*155C>A (n.*155C>A) c.509C>A (n.509C>A) | gnomAD v4 |
| 11 | g.116833039C>T | CA2616111399 | APOC3 | c.*155C>T (n.*155C>T) c.509C>T (n.509C>T) | gnomAD v4 |
| 11 | g.116833040del | CA2616111397 | APOC3 | c.*156del (n.*156del) c.510del (n.510del) | gnomAD v4 |
| 11 | g.116833040C>T | CA2616111400 | APOC3 | c.*156C>T (n.*156C>T) c.510C>T (n.510C>T) | gnomAD v4 |
| 11 | g.116833042C= | CA2002760415 | APOC3 | c.*158C= (n.*158C=) c.512C= (n.512C=) | |
| 11 | g.116833042C>T | CA229321251 | APOC3 | c.*158C>T (n.*158C>T) c.512C>T (n.512C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116833044del | CA2616111401 | APOC3 | c.*160del (n.*160del) c.514del (n.514del) | gnomAD v4 |
| 11 | g.116833043C>A | CA2616111402 | APOC3 | c.*159C>A (n.*159C>A) c.513C>A (n.513C>A) | gnomAD v4 |
| 11 | g.116833043C>T | CA2616111403 | APOC3 | c.*159C>T (n.*159C>T) c.513C>T (n.513C>T) | gnomAD v4 |
| 11 | g.116833044C>A | CA2616111404 | APOC3 | c.*160C>A (n.*160C>A) c.514C>A (n.514C>A) | gnomAD v4 |
| 11 | g.116833044C= | CA2002760416 | APOC3 | c.*160C= (n.*160C=) c.514C= (n.514C=) | |
| 11 | g.116833044C>G | CA672202454 | APOC3 | c.*160C>G (n.*160C>G) c.514C>G (n.514C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116833046A= | CA2002760417 | APOC3 | c.*162A= (n.*162A=) c.516A= (n.516A=) | |
| 11 | g.116833046A>C | CA2616111405 | APOC3 | c.*162A>C (n.*162A>C) c.516A>C (n.516A>C) | gnomAD v4 |
| 11 | g.116833046A>G | CA229321252 | APOC3 | c.*162A>G (n.*162A>G) c.516A>G (n.516A>G) | dbSNP gnomAD v4 |
| 11 | g.116833048A>C | CA2616111406 | APOC3 | c.*164A>C (n.*164A>C) c.518A>C (n.518A>C) | gnomAD v4 |
| 11 | g.116833049A>C | CA2616111407 | APOC3 | c.*165A>C (n.*165A>C) c.519A>C (n.519A>C) | gnomAD v4 |
| 11 | g.116833051G>A | CA2616111408 | APOC3 | c.*167G>A (n.*167G>A) c.521G>A (n.521G>A) | gnomAD v4 |