UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116832843T>A | CA382711546 | APOC3 | c.259T>A (p.Leu87Met) c.313T>A (p.Leu105Met) | |
| 11 | g.116832843T>C | CA476868956 | APOC3 | c.259T>C (p.Leu87=) c.313T>C (p.Leu105=) | |
| 11 | g.116832843T>G | CA382711539 | APOC3 | c.259T>G (p.Leu87Val) c.313T>G (p.Leu105Val) | |
| 11 | g.116832844T>A | CA382711551 | APOC3 | c.260T>A (p.Leu87Ter) c.314T>A (p.Leu105Ter) | |
| 11 | g.116832844T>C | CA382711548 | APOC3 | c.260T>C (p.Leu87Ser) c.314T>C (p.Leu105Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116832844T>G | CA382711550 | APOC3 | c.260T>G (p.Leu87Trp) c.314T>G (p.Leu105Trp) | |
| 11 | g.116832844T= | CA2002760302 | APOC3 | c.260T= (p.Leu87=) c.314T= (p.Leu105=) | |
| 11 | g.116832845G>A | CA476868957 | APOC3 | c.261G>A (p.Leu87=) c.315G>A (p.Leu105=) | |
| 11 | g.116832845G>C | CA6289697 | APOC3 | c.261G>C (p.Leu87Phe) c.315G>C (p.Leu105Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832845G= | CA2002760303 | APOC3 | c.261G= (p.Leu87=) c.315G= (p.Leu105=) | |
| 11 | g.116832845G>T | CA382711553 | APOC3 | c.261G>T (p.Leu87Phe) c.315G>T (p.Leu105Phe) | |
| 11 | g.116832846G>A | CA382711554 | APOC3 | c.262G>A (p.Asp88Asn) c.316G>A (p.Asp106Asn) | |
| 11 | g.116832846G>C | CA382711556 | APOC3 | c.262G>C (p.Asp88His) c.316G>C (p.Asp106His) | |
| 11 | g.116832846G>T | CA382711559 | APOC3 | c.262G>T (p.Asp88Tyr) c.316G>T (p.Asp106Tyr) | |
| 11 | g.116832847A= | CA2002760304 | APOC3 | c.263A= (p.Asp88=) c.317A= (p.Asp106=) | |
| 11 | g.116832847A>C | CA382711562 | APOC3 | c.263A>C (p.Asp88Ala) c.317A>C (p.Asp106Ala) | dbSNP |
| 11 | g.116832847A>G | CA382711566 | APOC3 | c.263A>G (p.Asp88Gly) c.317A>G (p.Asp106Gly) | |
| 11 | g.116832847A>T | CA382711568 | APOC3 | c.263A>T (p.Asp88Val) c.317A>T (p.Asp106Val) | |
| 11 | g.116832848_116832863del | CA2500472015 | APOC3 | c.264_279del (p.Asp88GlufsTer?) c.318_333del (p.Asp106GlufsTer?) | |
| 11 | g.116832848C>A | CA6289698 | APOC3 | c.264C>A (p.Asp88Glu) c.318C>A (p.Asp106Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832848C= | CA2002760305 | APOC3 | c.264C= (p.Asp88=) c.318C= (p.Asp106=) | |
| 11 | g.116832848C>G | CA382711572 | APOC3 | c.264C>G (p.Asp88Glu) c.318C>G (p.Asp106Glu) | |
| 11 | g.116832848C>T | CA476868958 | APOC3 | c.264C>T (p.Asp88=) c.318C>T (p.Asp106=) | |
| 11 | g.116832849C>A | CA382711577 | APOC3 | c.265C>A (p.Pro89Thr) c.319C>A (p.Pro107Thr) | |
| 11 | g.116832849C= | CA2002760306 | APOC3 | c.265C= (p.Pro89=) c.319C= (p.Pro107=) | |
| 11 | g.116832849C>G | CA382711576 | APOC3 | c.265C>G (p.Pro89Ala) c.319C>G (p.Pro107Ala) | |
| 11 | g.116832849C>T | CA6289699 | APOC3 | c.265C>T (p.Pro89Ser) c.319C>T (p.Pro107Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832850C>A | CA382711578 | APOC3 | c.266C>A (p.Pro89His) c.320C>A (p.Pro107His) | |
| 11 | g.116832850C>G | CA382711579 | APOC3 | c.266C>G (p.Pro89Arg) c.320C>G (p.Pro107Arg) | |
| 11 | g.116832850C>T | CA382711580 | APOC3 | c.266C>T (p.Pro89Leu) c.320C>T (p.Pro107Leu) | |
| 11 | g.116832851T>A | CA476868959 | APOC3 | c.267T>A (p.Pro89=) c.321T>A (p.Pro107=) | |
| 11 | g.116832851T>C | CA476868960 | APOC3 | c.267T>C (p.Pro89=) c.321T>C (p.Pro107=) | gnomAD v4 |
| 11 | g.116832851T>G | CA476868961 | APOC3 | c.267T>G (p.Pro89=) c.321T>G (p.Pro107=) | |
| 11 | g.116832852G>A | CA382711582 | APOC3 | c.268G>A (p.Glu90Lys) c.322G>A (p.Glu108Lys) | |
| 11 | g.116832852G>C | CA382711585 | APOC3 | c.268G>C (p.Glu90Gln) c.322G>C (p.Glu108Gln) | |
| 11 | g.116832852G>T | CA382711588 | APOC3 | c.268G>T (p.Glu90Ter) c.322G>T (p.Glu108Ter) | |
| 11 | g.116832853A>C | CA382711591 | APOC3 | c.269A>C (p.Glu90Ala) c.323A>C (p.Glu108Ala) | |
| 11 | g.116832853A>G | CA382711593 | APOC3 | c.269A>G (p.Glu90Gly) c.323A>G (p.Glu108Gly) | COSMIC |
| 11 | g.116832853A>T | CA382711596 | APOC3 | c.269A>T (p.Glu90Val) c.323A>T (p.Glu108Val) | |
| 11 | g.116832854G>A | CA6289700 | APOC3 | c.270G>A (p.Glu90=) c.324G>A (p.Glu108=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116832854G>C | CA382711599 | APOC3 | c.270G>C (p.Glu90Asp) c.324G>C (p.Glu108Asp) | gnomAD v4 |
| 11 | g.116832854G= | CA2002760307 | APOC3 | c.270G= (p.Glu90=) c.324G= (p.Glu108=) | |
| 11 | g.116832854G>T | CA382711602 | APOC3 | c.270G>T (p.Glu90Asp) c.324G>T (p.Glu108Asp) | |
| 11 | g.116832855G>A | CA6289701 | APOC3 | c.271G>A (p.Val91Ile) c.325G>A (p.Val109Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832855G>C | CA382711609 | APOC3 | c.271G>C (p.Val91Leu) c.325G>C (p.Val109Leu) | |
| 11 | g.116832855G= | CA2002760308 | APOC3 | c.271G= (p.Val91=) c.325G= (p.Val109=) | |
| 11 | g.116832855G>T | CA382711606 | APOC3 | c.271G>T (p.Val91Phe) c.325G>T (p.Val109Phe) | |
| 11 | g.116832856T>A | CA382711614 | APOC3 | c.272T>A (p.Val91Asp) c.326T>A (p.Val109Asp) | |
| 11 | g.116832856T>C | CA382711616 | APOC3 | c.272T>C (p.Val91Ala) c.326T>C (p.Val109Ala) |