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.116830741_116830755del | CA2616110947 | APOC3 | c.56-32_56-18del (n.56-32_56-18del) c.110-32_110-18del (n.110-32_110-18del) n.88-32_88-18del | gnomAD v4 |
| 11 | g.116830749C= | CA2002758880 | APOC3 | c.56-24C= (n.56-24C=) c.110-24C= (n.110-24C=) n.88-24C= | |
| 11 | g.116830749C>G | CA6289643 | APOC3 | c.56-24C>G (n.56-24C>G) c.110-24C>G (n.110-24C>G) n.88-24C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830749C>T | CA672199184 | APOC3 | c.56-24C>T (n.56-24C>T) c.110-24C>T (n.110-24C>T) n.88-24C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116830751C>A | CA2616110951 | APOC3 | c.56-22C>A (n.56-22C>A) c.110-22C>A (n.110-22C>A) n.88-22C>A | gnomAD v4 |
| 11 | g.116830751C>G | CA2616110952 | APOC3 | c.56-22C>G (n.56-22C>G) c.110-22C>G (n.110-22C>G) n.88-22C>G | gnomAD v4 |
| 11 | g.116830751C>T | CA2616110953 | APOC3 | c.56-22C>T (n.56-22C>T) c.110-22C>T (n.110-22C>T) n.88-22C>T | gnomAD v4 |
| 11 | g.116830752T>G | CA6289644 | APOC3 | c.56-21T>G (n.56-21T>G) c.110-21T>G (n.110-21T>G) n.88-21T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830752T= | CA2002758881 | APOC3 | c.56-21T= (n.56-21T=) c.110-21T= (n.110-21T=) n.88-21T= | |
| 11 | g.116830753C= | CA2002758882 | APOC3 | c.56-20C= (n.56-20C=) c.110-20C= (n.110-20C=) n.88-20C= | |
| 11 | g.116830753C>G | CA6289645 | APOC3 | c.56-20C>G (n.56-20C>G) c.110-20C>G (n.110-20C>G) n.88-20C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830753C>T | CA602136431 | APOC3 | c.56-20C>T (n.56-20C>T) c.110-20C>T (n.110-20C>T) n.88-20C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830756C= | CA2002758883 | APOC3 | c.56-17C= (n.56-17C=) c.110-17C= (n.110-17C=) n.88-17C= | |
| 11 | g.116830756C>T | CA672199189 | APOC3 | c.56-17C>T (n.56-17C>T) c.110-17C>T (n.110-17C>T) n.88-17C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116830757C>A | CA2725023631 | APOC3 | c.56-16C>A (n.56-16C>A) c.110-16C>A (n.110-16C>A) n.88-16C>A | dbSNP |
| 11 | g.116830758C>A | CA6289646 | APOC3 | c.56-15C>A (n.56-15C>A) c.110-15C>A (n.110-15C>A) n.88-15C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830758C= | CA2002758884 | APOC3 | c.56-15C= (n.56-15C=) c.110-15C= (n.110-15C=) n.88-15C= | |
| 11 | g.116830759T>C | CA654624851 | APOC3 | c.56-14T>C (n.56-14T>C) c.110-14T>C (n.110-14T>C) n.88-14T>C | |
| 11 | g.116830761C>A | CA2002758886 | APOC3 | c.56-12C>A (n.56-12C>A) c.110-12C>A (n.110-12C>A) n.88-12C>A | dbSNP |
| 11 | g.116830761C= | CA2002758885 | APOC3 | c.56-12C= (n.56-12C=) c.110-12C= (n.110-12C=) n.88-12C= | |
| 11 | g.116830761C>T | CA2793764848 | APOC3 | c.56-12C>T (n.56-12C>T) c.110-12C>T (n.110-12C>T) n.88-12C>T | |
| 11 | g.116830762T>C | CA2574986560 | APOC3 | c.56-11T>C (n.56-11T>C) c.110-11T>C (n.110-11T>C) n.88-11T>C | gnomAD v4 |
| 11 | g.116830763C>G | CA2616110955 | APOC3 | c.56-10C>G (n.56-10C>G) c.110-10C>G (n.110-10C>G) n.88-10C>G | gnomAD v4 |
| 11 | g.116830763C>T | CA2616110954 | APOC3 | c.56-10C>T (n.56-10C>T) c.110-10C>T (n.110-10C>T) n.88-10C>T | gnomAD v4 |
| 11 | g.116830764T>C | CA6289647 | APOC3 | c.56-9T>C (n.56-9T>C) c.110-9T>C (n.110-9T>C) n.88-9T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830764T>G | CA942637598 | APOC3 | c.56-9T>G (n.56-9T>G) c.110-9T>G (n.110-9T>G) n.88-9T>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116830764T= | CA2002758887 | APOC3 | c.56-9T= (n.56-9T=) c.110-9T= (n.110-9T=) n.88-9T= | |
| 11 | g.116830768C>T | CA2725023798 | APOC3 | c.56-5C>T (n.56-5C>T) c.110-5C>T (n.110-5C>T) n.88-5C>T | dbSNP |
| 11 | g.116830769T>G | CA2616110956 | APOC3 | c.56-4T>G (n.56-4T>G) c.110-4T>G (n.110-4T>G) n.88-4T>G | gnomAD v4 |
| 11 | g.116830770C= | CA2002758888 | APOC3 | c.56-3C= (n.56-3C=) c.110-3C= (n.110-3C=) n.88-3C= | |
| 11 | g.116830770C>T | CA942637601 | APOC3 | c.56-3C>T (n.56-3C>T) c.110-3C>T (n.110-3C>T) n.88-3C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116830771A>C | CA382709748 | APOC3 | c.56-2A>C (n.56-2A>C) c.110-2A>C (n.110-2A>C) n.88-2A>C | |
| 11 | g.116830771A>G | CA382709750 | APOC3 | c.56-2A>G (n.56-2A>G) c.110-2A>G (n.110-2A>G) n.88-2A>G | gnomAD v4 |
| 11 | g.116830771A>T | CA382709752 | APOC3 | c.56-2A>T (n.56-2A>T) c.110-2A>T (n.110-2A>T) n.88-2A>T | |
| 11 | g.116830772G>A | CA6289648 | APOC3 | c.56-1G>A (n.56-1G>A) c.110-1G>A (n.110-1G>A) n.88-1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830772G>C | CA382709756 | APOC3 | c.56-1G>C (n.56-1G>C) c.110-1G>C (n.110-1G>C) n.88-1G>C | |
| 11 | g.116830772G= | CA2002758889 | APOC3 | c.56-1G= (n.56-1G=) c.110-1G= (n.110-1G=) n.88-1G= | |
| 11 | g.116830772G>T | CA382709758 | APOC3 | c.56-1G>T (n.56-1G>T) c.110-1G>T (n.110-1G>T) n.88-1G>T | |
| 11 | g.116830773G>A | CA382709761 | APOC3 | c.56G>A (p.Arg19Gln) c.110G>A (p.Arg37Gln) n.88G>A | gnomAD v4 COSMIC |
| 11 | g.116830773G>C | CA382709763 | APOC3 | c.56G>C (p.Arg19Pro) c.110G>C (p.Arg37Pro) n.88G>C | |
| 11 | g.116830773G>T | CA382709765 | APOC3 | c.56G>T (p.Arg19Leu) c.110G>T (p.Arg37Leu) n.88G>T | |
| 11 | g.116830774A>C | CA477048213 | APOC3 | c.57A>C (p.Arg19=) c.111A>C (p.Arg37=) n.89A>C | |
| 11 | g.116830774A>G | CA477048215 | APOC3 | c.57A>G (p.Arg19=) c.111A>G (p.Arg37=) n.89A>G | gnomAD v4 |
| 11 | g.116830774A>T | CA477048214 | APOC3 | c.57A>T (p.Arg19=) c.111A>T (p.Arg37=) n.89A>T | |
| 11 | g.116830775G>A | CA382709767 | APOC3 | c.58G>A (p.Ala20Thr) c.112G>A (p.Ala38Thr) n.90G>A | |
| 11 | g.116830775G>C | CA382709769 | APOC3 | c.58G>C (p.Ala20Pro) c.112G>C (p.Ala38Pro) n.90G>C | |
| 11 | g.116830775G>T | CA382709770 | APOC3 | c.58G>T (p.Ala20Ser) c.112G>T (p.Ala38Ser) n.90G>T | |
| 11 | g.116830776C>A | CA382709775 | APOC3 | c.59C>A (p.Ala20Asp) c.113C>A (p.Ala38Asp) n.91C>A | |
| 11 | g.116830776C= | CA2002758890 | APOC3 | c.59C= (p.Ala20=) c.113C= (p.Ala38=) n.91C= |