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.116832935G>A | CA2574986585 | APOC3 | c.*51G>A (n.*51G>A) c.405G>A (n.405G>A) | gnomAD v4 |
| 11 | g.116832935G= | CA2002760354 | APOC3 | c.*51G= (n.*51G=) c.405G= (n.405G=) | |
| 11 | g.116832935G>T | CA6289723 | APOC3 | c.*51G>T (n.*51G>T) c.405G>T (n.405G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832936T>C | CA6289724 | APOC3 | c.*52T>C (n.*52T>C) c.406T>C (n.406T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832936T= | CA2002760355 | APOC3 | c.*52T= (n.*52T=) c.406T= (n.406T=) | |
| 11 | g.116832938C>A | CA2616111311 | APOC3 | c.*54C>A (n.*54C>A) c.408C>A (n.408C>A) | gnomAD v4 |
| 11 | g.116832938C>T | CA2616111312 | APOC3 | c.*54C>T (n.*54C>T) c.408C>T (n.408C>T) | gnomAD v4 |
| 11 | g.116832941C>T | CA2574986586 | APOC3 | c.*57C>T (n.*57C>T) c.411C>T (n.411C>T) | |
| 11 | g.116832942A= | CA2002760356 | APOC3 | c.*58A= (n.*58A=) c.412A= (n.412A=) | |
| 11 | g.116832942A>G | CA229321195 | APOC3 | c.*58A>G (n.*58A>G) c.412A>G (n.412A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832944T>C | CA2616111313 | APOC3 | c.*60T>C (n.*60T>C) c.414T>C (n.414T>C) | gnomAD v4 |
| 11 | g.116832945C>A | CA2616111314 | APOC3 | c.*61C>A (n.*61C>A) c.415C>A (n.415C>A) | gnomAD v4 |
| 11 | g.116832947C>A | CA2616111316 | APOC3 | c.*63C>A (n.*63C>A) c.417C>A (n.417C>A) | gnomAD v4 |
| 11 | g.116832947C= | CA2002760357 | APOC3 | c.*63C= (n.*63C=) c.417C= (n.417C=) | |
| 11 | g.116832947C>T | CA672202336 | APOC3 | c.*63C>T (n.*63C>T) c.417C>T (n.417C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832948del | CA2616111315 | APOC3 | c.*64del (n.*64del) c.418del (n.418del) | gnomAD v4 |
| 11 | g.116832948C>A | CA2616111317 | APOC3 | c.*64C>A (n.*64C>A) c.418C>A (n.418C>A) | gnomAD v4 |
| 11 | g.116832949A>C | CA2616111318 | APOC3 | c.*65A>C (n.*65A>C) c.419A>C (n.419A>C) | gnomAD v4 |
| 11 | g.116832952G>A | CA601826041 | APOC3 | c.*68G>A (n.*68G>A) c.422G>A (n.422G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832952G>C | CA2002760359 | APOC3 | c.*68G>C (n.*68G>C) c.422G>C (n.422G>C) | dbSNP |
| 11 | g.116832952G= | CA2002760358 | APOC3 | c.*68G= (n.*68G=) c.422G= (n.422G=) | |
| 11 | g.116832952G>T | CA672202344 | APOC3 | c.*68G>T (n.*68G>T) c.422G>T (n.422G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832953C>A | CA229321201 | APOC3 | c.*69C>A (n.*69C>A) c.423C>A (n.423C>A) | dbSNP gnomAD v4 |
| 11 | g.116832953C= | CA2002760360 | APOC3 | c.*69C= (n.*69C=) c.423C= (n.423C=) | |
| 11 | g.116832953C>T | CA2574986587 | APOC3 | c.*69C>T (n.*69C>T) c.423C>T (n.423C>T) | gnomAD v4 |
| 11 | g.116832953_116832954del | CA2616111319 | APOC3 | c.*69_*70del (n.*69_*70del) c.423_424del (n.423_424del) | gnomAD v4 |
| 11 | g.116832955G>A | CA2581038209 | APOC3 | c.*71G>A (n.*71G>A) c.425G>A (n.425G>A) | gnomAD v4 |
| 11 | g.116832955G>C | CA2581038208 | APOC3 | c.*71G>C (n.*71G>C) c.425G>C (n.425G>C) | |
| 11 | g.116832955G= | CA2002760361 | APOC3 | c.*71G= (n.*71G=) c.425G= (n.425G=) | |
| 11 | g.116832955G>T | CA13493086 | APOC3 | c.*71G>T (n.*71G>T) c.425G>T (n.425G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832955_116832956delinsGC | CA2002760362 | APOC3 | c.*71_*72delinsGC (n.*71_*72delinsGC) c.425_426delinsGC (n.425_426delinsGC) | |
| 11 | g.116832955_116832956insT | CA654624861 | APOC3 | c.*71_*72insT (n.*71_*72insT) c.425_426insT (n.425_426insT) | |
| 11 | g.116832955_116832956insAA | CA2616111320 | APOC3 | c.*71_*72insAA (n.*71_*72insAA) c.425_426insAA (n.425_426insAA) | gnomAD v4 |
| 11 | g.116832956C>G | CA2616111321 | APOC3 | c.*72C>G (n.*72C>G) c.426C>G (n.426C>G) | gnomAD v4 |
| 11 | g.116832956C>T | CA2616111322 | APOC3 | c.*72C>T (n.*72C>T) c.426C>T (n.426C>T) | gnomAD v4 |
| 11 | g.116832959del | CA942608823 | APOC3 | c.*75del (n.*75del) c.429del (n.429del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832959C>A | CA2616111323 | APOC3 | c.*75C>A (n.*75C>A) c.429C>A (n.429C>A) | gnomAD v4 |
| 11 | g.116832960T>C | CA2002760364 | APOC3 | c.*76T>C (n.*76T>C) c.430T>C (n.430T>C) | dbSNP |
| 11 | g.116832960T= | CA2002760363 | APOC3 | c.*76T= (n.*76T=) c.430T= (n.430T=) | |
| 11 | g.116832962T>G | CA2616111324 | APOC3 | c.*78T>G (n.*78T>G) c.432T>G (n.432T>G) | gnomAD v4 |
| 11 | g.116832964G>A | CA2616111325 | APOC3 | c.*80G>A (n.*80G>A) c.434G>A (n.434G>A) | gnomAD v4 |
| 11 | g.116832964G= | CA2002760365 | APOC3 | c.*80G= (n.*80G=) c.434G= (n.434G=) | |
| 11 | g.116832964G>T | CA2002760366 | APOC3 | c.*80G>T (n.*80G>T) c.434G>T (n.434G>T) | dbSNP gnomAD v4 |
| 11 | g.116832965G>A | CA2616111326 | APOC3 | c.*81G>A (n.*81G>A) c.435G>A (n.435G>A) | gnomAD v4 |
| 11 | g.116832965G>C | CA2616111327 | APOC3 | c.*81G>C (n.*81G>C) c.435G>C (n.435G>C) | gnomAD v4 |
| 11 | g.116832965G>T | CA2558628937 | APOC3 | c.*81G>T (n.*81G>T) c.435G>T (n.435G>T) | gnomAD v4 |
| 11 | g.116832966T>A | CA476868986 | APOC3 | c.*82T>A (n.*82T>A) c.436T>A (n.436T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832966T= | CA2002760367 | APOC3 | c.*82T= (n.*82T=) c.436T= (n.436T=) | |
| 11 | g.116832967T>C | CA2616111328 | APOC3 | c.*83T>C (n.*83T>C) c.437T>C (n.437T>C) | gnomAD v4 |