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.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 |
| 11 | g.116832968G>T | CA2616111329 | APOC3 | c.*84G>T (n.*84G>T) c.438G>T (n.438G>T) | gnomAD v4 |
| 11 | g.116832969C>A | CA2616111330 | APOC3 | c.*85C>A (n.*85C>A) c.439C>A (n.439C>A) | gnomAD v4 |
| 11 | g.116832970_116832974del | CA2616111331 | APOC3 | c.*86_*90del (n.*86_*90del) c.440_444del (n.440_444del) | gnomAD v4 |
| 11 | g.116832971T>A | CA2616111332 | APOC3 | c.*87T>A (n.*87T>A) c.441T>A (n.441T>A) | gnomAD v4 |
| 11 | g.116832972A>G | CA2616111334 | APOC3 | c.*88A>G (n.*88A>G) c.442A>G (n.442A>G) | gnomAD v4 |
| 11 | g.116832975del | CA2616111333 | APOC3 | c.*91del (n.*91del) c.445del (n.445del) | gnomAD v4 |
| 11 | g.116832973A= | CA2002760369 | APOC3 | c.*89A= (n.*89A=) c.443A= (n.443A=) | |
| 11 | g.116832973A>G | CA672202350 | APOC3 | c.*89A>G (n.*89A>G) c.443A>G (n.443A>G) | dbSNP |
| 11 | g.116832973A>T | CA2616111335 | APOC3 | c.*89A>T (n.*89A>T) c.443A>T (n.443A>T) | gnomAD v4 |
| 11 | g.116832973_116832976delinsAAAG | CA2002760368 | APOC3 | c.*89_*92delinsAAAG (n.*89_*92delinsAAAG) c.443_446delinsAAAG (n.443_446delinsAAAG) | |
| 11 | g.116832974A>C | CA2616111336 | APOC3 | c.*90A>C (n.*90A>C) c.444A>C (n.444A>C) | gnomAD v4 |
| 11 | g.116832974A>G | CA2574986588 | APOC3 | c.*90A>G (n.*90A>G) c.444A>G (n.444A>G) | |
| 11 | g.116832974_116832976del | CA2002760370 | APOC3 | c.*90_*92del (n.*90_*92del) c.444_446del (n.444_446del) | dbSNP |
| 11 | g.116832975A= | CA2002760371 | APOC3 | c.*91A= (n.*91A=) c.445A= (n.445A=) | |
| 11 | g.116832975A>G | CA2616111337 | APOC3 | c.*91A>G (n.*91A>G) c.445A>G (n.445A>G) | gnomAD v4 |
| 11 | g.116832975A>T | CA2002760372 | APOC3 | c.*91A>T (n.*91A>T) c.445A>T (n.445A>T) | dbSNP gnomAD v4 |
| 11 | g.116832976G>C | CA2616111338 | APOC3 | c.*92G>C (n.*92G>C) c.446G>C (n.446G>C) | gnomAD v4 |
| 11 | g.116832977G>T | CA2616111339 | APOC3 | c.*93G>T (n.*93G>T) c.447G>T (n.447G>T) | gnomAD v4 |
| 11 | g.116832978G>C | CA2002760374 | APOC3 | c.*94G>C (n.*94G>C) c.448G>C (n.448G>C) | dbSNP |
| 11 | g.116832978G= | CA2002760373 | APOC3 | c.*94G= (n.*94G=) c.448G= (n.448G=) | |
| 11 | g.116832978G>T | CA476868987 | APOC3 | c.*94G>T (n.*94G>T) c.448G>T (n.448G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832980C>A | CA2616111341 | APOC3 | c.*96C>A (n.*96C>A) c.450C>A (n.450C>A) | gnomAD v4 |