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.116832983T>C | CA229321218 | APOC3 | c.*99T>C (n.*99T>C) c.453T>C (n.453T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832983T= | CA2002760379 | APOC3 | c.*99T= (n.*99T=) c.453T= (n.453T=) | |
| 11 | g.116832984A= | CA2002760380 | APOC3 | c.*100A= (n.*100A=) c.454A= (n.454A=) | |
| 11 | g.116832984A>C | CA2724969294 | APOC3 | c.*100A>C (n.*100A>C) c.454A>C (n.454A>C) | dbSNP |
| 11 | g.116832984A>G | CA672202362 | APOC3 | c.*100A>G (n.*100A>G) c.454A>G (n.454A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832985T>A | CA2616111343 | APOC3 | c.*101T>A (n.*101T>A) c.455T>A (n.455T>A) | gnomAD v4 |
| 11 | g.116832986T>G | CA942608830 | APOC3 | c.*102T>G (n.*102T>G) c.456T>G (n.456T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832986T= | CA2002760381 | APOC3 | c.*102T= (n.*102T=) c.456T= (n.456T=) | |
| 11 | g.116832987C>A | CA2616111344 | APOC3 | c.*103C>A (n.*103C>A) c.457C>A (n.457C>A) | gnomAD v4 |
| 11 | g.116832987C>T | CA2616111345 | APOC3 | c.*103C>T (n.*103C>T) c.457C>T (n.457C>T) | gnomAD v4 |
| 11 | g.116832989C>A | CA2616111346 | APOC3 | c.*105C>A (n.*105C>A) c.459C>A (n.459C>A) | gnomAD v4 |
| 11 | g.116832990A>G | CA2616111347 | APOC3 | c.*106A>G (n.*106A>G) c.460A>G (n.460A>G) | gnomAD v4 |
| 11 | g.116832991G>C | CA672202365 | APOC3 | c.*107G>C (n.*107G>C) c.461G>C (n.461G>C) | dbSNP |
| 11 | g.116832991G= | CA2002760382 | APOC3 | c.*107G= (n.*107G=) c.461G= (n.461G=) | |
| 11 | g.116832991G>T | CA2616111348 | APOC3 | c.*107G>T (n.*107G>T) c.461G>T (n.461G>T) | gnomAD v4 |
| 11 | g.116832993G= | CA2002760383 | APOC3 | c.*109G= (n.*109G=) c.463G= (n.463G=) | |
| 11 | g.116832993G>T | CA672202368 | APOC3 | c.*109G>T (n.*109G>T) c.463G>T (n.463G>T) | dbSNP |
| 11 | g.116832994C>A | CA2616111349 | APOC3 | c.*110C>A (n.*110C>A) c.464C>A (n.464C>A) | gnomAD v4 |
| 11 | g.116832995T>C | CA2725025550 | APOC3 | c.*111T>C (n.*111T>C) c.465T>C (n.465T>C) | dbSNP |
| 11 | g.116832996C>A | CA2616111350 | APOC3 | c.*112C>A (n.*112C>A) c.466C>A (n.466C>A) | gnomAD v4 |
| 11 | g.116832996C= | CA2002760384 | APOC3 | c.*112C= (n.*112C=) c.466C= (n.466C=) | |
| 11 | g.116832996C>T | CA229321221 | APOC3 | c.*112C>T (n.*112C>T) c.466C>T (n.466C>T) | dbSNP gnomAD v4 |
| 11 | g.116832997T>A | CA2616111351 | APOC3 | c.*113T>A (n.*113T>A) c.467T>A (n.467T>A) | gnomAD v4 |
| 11 | g.116832997T>C | CA2616111352 | APOC3 | c.*113T>C (n.*113T>C) c.467T>C (n.467T>C) | gnomAD v4 |
| 11 | g.116832998C>A | CA2616111353 | APOC3 | c.*114C>A (n.*114C>A) c.468C>A (n.468C>A) | gnomAD v4 |
| 11 | g.116832999C>A | CA2616111354 | APOC3 | c.*115C>A (n.*115C>A) c.469C>A (n.469C>A) | gnomAD v4 |
| 11 | g.116832999C>T | CA2616111355 | APOC3 | c.*115C>T (n.*115C>T) c.469C>T (n.469C>T) | gnomAD v4 |
| 11 | g.116833000T>C | CA601826043 | APOC3 | c.*116T>C (n.*116T>C) c.470T>C (n.470T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116833000T= | CA2002760385 | APOC3 | c.*116T= (n.*116T=) c.470T= (n.470T=) | |
| 11 | g.116833001A= | CA2002760386 | APOC3 | c.*117A= (n.*117A=) c.471A= (n.471A=) | |
| 11 | g.116833001A>C | CA2002760387 | APOC3 | c.*117A>C (n.*117A>C) c.471A>C (n.471A>C) | dbSNP |
| 11 | g.116833001_116833003dup | CA2616111356 | APOC3 | c.*117_*119dup (n.*117_*119dup) c.471_473dup (n.471_473dup) | gnomAD v4 |
| 11 | g.116833002C>A | CA229321222 | APOC3 | c.*118C>A (n.*118C>A) c.472C>A (n.472C>A) | dbSNP gnomAD v4 |
| 11 | g.116833002C= | CA2002760388 | APOC3 | c.*118C= (n.*118C=) c.472C= (n.472C=) | |
| 11 | g.116833002C>T | CA2616111357 | APOC3 | c.*118C>T (n.*118C>T) c.472C>T (n.472C>T) | 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 |