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.116830819T>A | CA477048259 | APOC3 | c.102T>A (p.Gly34=) c.156T>A (p.Gly52=) n.134T>A | dbSNP gnomAD v4 |
| 11 | g.116830819T>C | CA6289656 | APOC3 | c.102T>C (p.Gly34=) c.156T>C (p.Gly52=) n.134T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830819T>G | CA477048260 | APOC3 | c.102T>G (p.Gly34=) c.156T>G (p.Gly52=) n.134T>G | |
| 11 | g.116830819T= | CA1630855356 | APOC3 | c.102T= (p.Gly34=) c.156T= (p.Gly52=) n.134T= | |
| 11 | g.116830820T>A | CA382709973 | APOC3 | c.103T>A (p.Tyr35Asn) c.157T>A (p.Tyr53Asn) n.135T>A | |
| 11 | g.116830820T>C | CA382709975 | APOC3 | c.103T>C (p.Tyr35His) c.157T>C (p.Tyr53His) n.135T>C | |
| 11 | g.116830820T>G | CA382709976 | APOC3 | c.103T>G (p.Tyr35Asp) c.157T>G (p.Tyr53Asp) n.135T>G | |
| 11 | g.116830821A>C | CA382709978 | APOC3 | c.104A>C (p.Tyr35Ser) c.158A>C (p.Tyr53Ser) n.136A>C | gnomAD v4 |
| 11 | g.116830821A>G | CA382709980 | APOC3 | c.104A>G (p.Tyr35Cys) c.158A>G (p.Tyr53Cys) n.136A>G | gnomAD v4 |
| 11 | g.116830821A>T | CA382709982 | APOC3 | c.104A>T (p.Tyr35Phe) c.158A>T (p.Tyr53Phe) n.136A>T | |
| 11 | g.116830822C>A | CA382709984 | APOC3 | c.105C>A (p.Tyr35Ter) c.159C>A (p.Tyr53Ter) n.137C>A | |
| 11 | g.116830822C= | CA2002758913 | APOC3 | c.105C= (p.Tyr35=) c.159C= (p.Tyr53=) n.137C= | |
| 11 | g.116830822C>G | CA382709986 | APOC3 | c.105C>G (p.Tyr35Ter) c.159C>G (p.Tyr53Ter) n.137C>G | |
| 11 | g.116830822C>T | CA477048261 | APOC3 | c.105C>T (p.Tyr35=) c.159C>T (p.Tyr53=) n.137C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830823A= | CA2002758914 | APOC3 | c.106A= (p.Met36=) c.160A= (p.Met54=) n.138A= | |
| 11 | g.116830823A>C | CA382709993 | APOC3 | c.106A>C (p.Met36Leu) c.160A>C (p.Met54Leu) n.138A>C | |
| 11 | g.116830823A>G | CA382709988 | APOC3 | c.106A>G (p.Met36Val) c.160A>G (p.Met54Val) n.138A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830823A>T | CA382709991 | APOC3 | c.106A>T (p.Met36Leu) c.160A>T (p.Met54Leu) n.138A>T | |
| 11 | g.116830824T>A | CA382709995 | APOC3 | c.107T>A (p.Met36Lys) c.161T>A (p.Met54Lys) n.139T>A | |
| 11 | g.116830824T>C | CA382709997 | APOC3 | c.107T>C (p.Met36Thr) c.161T>C (p.Met54Thr) n.139T>C | |
| 11 | g.116830824T>G | CA382709999 | APOC3 | c.107T>G (p.Met36Arg) c.161T>G (p.Met54Arg) n.139T>G | gnomAD v3 gnomAD v4 |
| 11 | g.116830825G>A | CA382710000 | APOC3 | c.108G>A (p.Met36Ile) c.162G>A (p.Met54Ile) n.140G>A | |
| 11 | g.116830825G>C | CA382710002 | APOC3 | c.108G>C (p.Met36Ile) c.162G>C (p.Met54Ile) n.140G>C | |
| 11 | g.116830825G>T | CA382710004 | APOC3 | c.108G>T (p.Met36Ile) c.162G>T (p.Met54Ile) n.140G>T | gnomAD v4 |
| 11 | g.116830826A>C | CA382710006 | APOC3 | c.109A>C (p.Lys37Gln) c.163A>C (p.Lys55Gln) n.141A>C | |
| 11 | g.116830826A>G | CA382710008 | APOC3 | c.109A>G (p.Lys37Glu) c.163A>G (p.Lys55Glu) n.141A>G | |
| 11 | g.116830826A>T | CA382710010 | APOC3 | c.109A>T (p.Lys37Ter) c.163A>T (p.Lys55Ter) n.141A>T | |
| 11 | g.116830827A= | CA2002758915 | APOC3 | c.110A= (p.Lys37=) c.164A= (p.Lys55=) n.142A= | |
| 11 | g.116830827A>C | CA382710012 | APOC3 | c.110A>C (p.Lys37Thr) c.164A>C (p.Lys55Thr) n.142A>C | |
| 11 | g.116830827A>G | CA382710015 | APOC3 | c.110A>G (p.Lys37Arg) c.164A>G (p.Lys55Arg) n.142A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830827A>T | CA382710016 | APOC3 | c.110A>T (p.Lys37Met) c.164A>T (p.Lys55Met) n.142A>T | |
| 11 | g.116830828G>A | CA477048265 | APOC3 | c.111G>A (p.Lys37=) c.165G>A (p.Lys55=) n.143G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116830828G>C | CA382710019 | APOC3 | c.111G>C (p.Lys37Asn) c.165G>C (p.Lys55Asn) n.143G>C | |
| 11 | g.116830828G= | CA2002758916 | APOC3 | c.111G= (p.Lys37=) c.165G= (p.Lys55=) n.143G= | |
| 11 | g.116830828G>T | CA382710018 | APOC3 | c.111G>T (p.Lys37Asn) c.165G>T (p.Lys55Asn) n.143G>T | |
| 11 | g.116830828_116830829insATCTA | CA2616110958 | APOC3 | c.111_112insATCTA (p.His38IlefsTer12) c.165_166insATCTA (p.His56IlefsTer12) n.143_144insATCTA | gnomAD v4 |
| 11 | g.116830829C>A | CA382710020 | APOC3 | c.112C>A (p.His38Asn) c.166C>A (p.His56Asn) n.144C>A | |
| 11 | g.116830829C>G | CA382710021 | APOC3 | c.112C>G (p.His38Asp) c.166C>G (p.His56Asp) n.144C>G | |
| 11 | g.116830829C>T | CA382710023 | APOC3 | c.112C>T (p.His38Tyr) c.166C>T (p.His56Tyr) n.144C>T | |
| 11 | g.116830830A>C | CA382710025 | APOC3 | c.113A>C (p.His38Pro) c.167A>C (p.His56Pro) n.145A>C | |
| 11 | g.116830830A>G | CA382710026 | APOC3 | c.113A>G (p.His38Arg) c.167A>G (p.His56Arg) n.145A>G | |
| 11 | g.116830830A>T | CA382710027 | APOC3 | c.113A>T (p.His38Leu) c.167A>T (p.His56Leu) n.145A>T | |
| 11 | g.116830831C>A | CA382710028 | APOC3 | c.114C>A (p.His38Gln) c.168C>A (p.His56Gln) n.146C>A | |
| 11 | g.116830831C= | CA2002758917 | APOC3 | c.114C= (p.His38=) c.168C= (p.His56=) n.146C= | |
| 11 | g.116830831C>G | CA382710029 | APOC3 | c.114C>G (p.His38Gln) c.168C>G (p.His56Gln) n.146C>G | dbSNP |
| 11 | g.116830831C>T | CA6289657 | APOC3 | c.114C>T (p.His38=) c.168C>T (p.His56=) n.146C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830832G>A | CA6289658 | APOC3 | c.115G>A (p.Ala39Thr) c.169G>A (p.Ala57Thr) n.147G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830832G>C | CA382710030 | APOC3 | c.115G>C (p.Ala39Pro) c.169G>C (p.Ala57Pro) n.147G>C | |
| 11 | g.116830832G= | CA2002758918 | APOC3 | c.115G= (p.Ala39=) c.169G= (p.Ala57=) n.147G= |