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.116830729_116830731dup | CA2616110942 | APOC3 | c.56-44_56-42dup (n.56-44_56-42dup) c.110-44_110-42dup (n.110-44_110-42dup) n.88-44_88-42dup | gnomAD v4 |
| 11 | g.116830729G>A | CA6289636 | APOC3 | c.56-44G>A (n.56-44G>A) c.110-44G>A (n.110-44G>A) n.88-44G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830729G= | CA2002758873 | APOC3 | c.56-44G= (n.56-44G=) c.110-44G= (n.110-44G=) n.88-44G= | |
| 11 | g.116830729G>T | CA6289635 | APOC3 | c.56-44G>T (n.56-44G>T) c.110-44G>T (n.110-44G>T) n.88-44G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830730T>C | CA2616110943 | APOC3 | c.56-43T>C (n.56-43T>C) c.110-43T>C (n.110-43T>C) n.88-43T>C | gnomAD v4 |
| 11 | g.116830731C>A | CA2616110944 | APOC3 | c.56-42C>A (n.56-42C>A) c.110-42C>A (n.110-42C>A) n.88-42C>A | gnomAD v4 |
| 11 | g.116830734G= | CA2002758874 | APOC3 | c.56-39G= (n.56-39G=) c.110-39G= (n.110-39G=) n.88-39G= | |
| 11 | g.116830734G>T | CA229318390 | APOC3 | c.56-39G>T (n.56-39G>T) c.110-39G>T (n.110-39G>T) n.88-39G>T | dbSNP |
| 11 | g.116830735A>G | CA2616110945 | APOC3 | c.56-38A>G (n.56-38A>G) c.110-38A>G (n.110-38A>G) n.88-38A>G | gnomAD v4 |
| 11 | g.116830737G>T | CA2616110946 | APOC3 | c.56-36G>T (n.56-36G>T) c.110-36G>T (n.110-36G>T) n.88-36G>T | gnomAD v4 |
| 11 | g.116830739C= | CA2002758875 | APOC3 | c.56-34C= (n.56-34C=) c.110-34C= (n.110-34C=) n.88-34C= | |
| 11 | g.116830739C>T | CA6289637 | APOC3 | c.56-34C>T (n.56-34C>T) c.110-34C>T (n.110-34C>T) n.88-34C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830740G>A | CA6289639 | APOC3 | c.56-33G>A (n.56-33G>A) c.110-33G>A (n.110-33G>A) n.88-33G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830740G>C | CA6289638 | APOC3 | c.56-33G>C (n.56-33G>C) c.110-33G>C (n.110-33G>C) n.88-33G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830740G= | CA2002758876 | APOC3 | c.56-33G= (n.56-33G=) c.110-33G= (n.110-33G=) n.88-33G= | |
| 11 | g.116830740G>T | CA602136430 | APOC3 | c.56-33G>T (n.56-33G>T) c.110-33G>T (n.110-33G>T) n.88-33G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.116830742T>C | CA6289640 | APOC3 | c.56-31T>C (n.56-31T>C) c.110-31T>C (n.110-31T>C) n.88-31T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830742T>G | CA2616110948 | APOC3 | c.56-31T>G (n.56-31T>G) c.110-31T>G (n.110-31T>G) n.88-31T>G | gnomAD v4 |
| 11 | g.116830742T= | CA2002758877 | APOC3 | c.56-31T= (n.56-31T=) c.110-31T= (n.110-31T=) n.88-31T= | |
| 11 | g.116830743C= | CA2002758878 | APOC3 | c.56-30C= (n.56-30C=) c.110-30C= (n.110-30C=) n.88-30C= | |
| 11 | g.116830743C>T | CA6289641 | APOC3 | c.56-30C>T (n.56-30C>T) c.110-30C>T (n.110-30C>T) n.88-30C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830746C>A | CA2574986559 | APOC3 | c.56-27C>A (n.56-27C>A) c.110-27C>A (n.110-27C>A) n.88-27C>A | |
| 11 | g.116830747C= | CA2002758879 | APOC3 | c.56-26C= (n.56-26C=) c.110-26C= (n.110-26C=) n.88-26C= | |
| 11 | g.116830747C>T | CA6289642 | APOC3 | c.56-26C>T (n.56-26C>T) c.110-26C>T (n.110-26C>T) n.88-26C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830748C>A | CA2616110949 | APOC3 | c.56-25C>A (n.56-25C>A) c.110-25C>A (n.110-25C>A) n.88-25C>A | gnomAD v4 |
| 11 | g.116830748C>T | CA2616110950 | APOC3 | c.56-25C>T (n.56-25C>T) c.110-25C>T (n.110-25C>T) n.88-25C>T | 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 |