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.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 |
| 11 | g.116833022C= | CA2002760405 | APOC3 | c.*138C= (n.*138C=) c.492C= (n.492C=) | |
| 11 | g.116833022C>G | CA601826265 | APOC3 | c.*138C>G (n.*138C>G) c.492C>G (n.492C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833022C>T | CA2616111379 | APOC3 | c.*138C>T (n.*138C>T) c.492C>T (n.492C>T) | gnomAD v4 |
| 11 | g.116833023C>A | CA2581038210 | APOC3 | c.*139C>A (n.*139C>A) c.493C>A (n.493C>A) | |
| 11 | g.116833023C= | CA2002760406 | APOC3 | c.*139C= (n.*139C=) c.493C= (n.493C=) | |
| 11 | g.116833023C>G | CA229321230 | APOC3 | c.*139C>G (n.*139C>G) c.493C>G (n.493C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833023C>T | CA672202431 | APOC3 | c.*139C>T (n.*139C>T) c.493C>T (n.493C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116833024C>A | CA2616111380 | APOC3 | c.*140C>A (n.*140C>A) c.494C>A (n.494C>A) | gnomAD v4 |
| 11 | g.116833024C= | CA2002760407 | APOC3 | c.*140C= (n.*140C=) c.494C= (n.494C=) | |
| 11 | g.116833024C>T | CA2002760408 | APOC3 | c.*140C>T (n.*140C>T) c.494C>T (n.494C>T) | dbSNP 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=) |