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.116832766G>A | CA382711080 | APOC3 | c.182G>A (p.Gly61Asp) c.236G>A (p.Gly79Asp) | |
| 11 | g.116832766G>C | CA382711077 | APOC3 | c.182G>C (p.Gly61Ala) c.236G>C (p.Gly79Ala) | |
| 11 | g.116832766G>T | CA382711079 | APOC3 | c.182G>T (p.Gly61Val) c.236G>T (p.Gly79Val) | |
| 11 | g.116832767C>A | CA476868917 | APOC3 | c.183C>A (p.Gly61=) c.237C>A (p.Gly79=) | |
| 11 | g.116832767C>G | CA476868918 | APOC3 | c.183C>G (p.Gly61=) c.237C>G (p.Gly79=) | |
| 11 | g.116832767C>T | CA476868919 | APOC3 | c.183C>T (p.Gly61=) c.237C>T (p.Gly79=) | |
| 11 | g.116832768T>A | CA382711083 | APOC3 | c.184T>A (p.Trp62Arg) c.238T>A (p.Trp80Arg) | |
| 11 | g.116832768T>C | CA382711086 | APOC3 | c.184T>C (p.Trp62Arg) c.238T>C (p.Trp80Arg) | |
| 11 | g.116832768T>G | CA382711088 | APOC3 | c.184T>G (p.Trp62Gly) c.238T>G (p.Trp80Gly) | |
| 11 | g.116832768_116832769delinsTG | CA2002760271 | APOC3 | c.184_185delinsTG (p.Trp62=) c.238_239delinsTG (p.Trp80=) | |
| 11 | g.116832769G>A | CA382711090 | APOC3 | c.185G>A (p.Trp62Ter) c.239G>A (p.Trp80Ter) | |
| 11 | g.116832769G>C | CA382711092 | APOC3 | c.185G>C (p.Trp62Ser) c.239G>C (p.Trp80Ser) | |
| 11 | g.116832769G>T | CA382711093 | APOC3 | c.185G>T (p.Trp62Leu) c.239G>T (p.Trp80Leu) | COSMIC |
| 11 | g.116832771del | CA601825996 | APOC3 | c.187del (p.Val63Ter) c.241del (p.Val81Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832770G>A | CA6289684 | APOC3 | c.186G>A (p.Trp62Ter) c.240G>A (p.Trp80Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832770G>C | CA382711096 | APOC3 | c.186G>C (p.Trp62Cys) c.240G>C (p.Trp80Cys) | |
| 11 | g.116832770G= | CA2002760272 | APOC3 | c.186G= (p.Trp62=) c.240G= (p.Trp80=) | |
| 11 | g.116832770G>T | CA382711094 | APOC3 | c.186G>T (p.Trp62Cys) c.240G>T (p.Trp80Cys) | gnomAD v4 |
| 11 | g.116832771G>A | CA382711098 | APOC3 | c.187G>A (p.Val63Met) c.241G>A (p.Val81Met) | dbSNP |
| 11 | g.116832771G>C | CA382711101 | APOC3 | c.187G>C (p.Val63Leu) c.241G>C (p.Val81Leu) | |
| 11 | g.116832771G>T | CA382711102 | APOC3 | c.187G>T (p.Val63Leu) c.241G>T (p.Val81Leu) | gnomAD v4 |
| 11 | g.116832772T>A | CA382711105 | APOC3 | c.188T>A (p.Val63Glu) c.242T>A (p.Val81Glu) | |
| 11 | g.116832772T>C | CA382711106 | APOC3 | c.188T>C (p.Val63Ala) c.242T>C (p.Val81Ala) | |
| 11 | g.116832772T>G | CA382711108 | APOC3 | c.188T>G (p.Val63Gly) c.242T>G (p.Val81Gly) | |
| 11 | g.116832773G>A | CA476868920 | APOC3 | c.189G>A (p.Val63=) c.243G>A (p.Val81=) | |
| 11 | g.116832773G>C | CA476868921 | APOC3 | c.189G>C (p.Val63=) c.243G>C (p.Val81=) | |
| 11 | g.116832773G>T | CA476868922 | APOC3 | c.189G>T (p.Val63=) c.243G>T (p.Val81=) | gnomAD v4 |
| 11 | g.116832774A>C | CA382711110 | APOC3 | c.190A>C (p.Thr64Pro) c.244A>C (p.Thr82Pro) | |
| 11 | g.116832774A>G | CA382711115 | APOC3 | c.190A>G (p.Thr64Ala) c.244A>G (p.Thr82Ala) | |
| 11 | g.116832774A>T | CA382711112 | APOC3 | c.190A>T (p.Thr64Ser) c.244A>T (p.Thr82Ser) | |
| 11 | g.116832775C>A | CA382711117 | APOC3 | c.191C>A (p.Thr64Asn) c.245C>A (p.Thr82Asn) | |
| 11 | g.116832775C>G | CA382711119 | APOC3 | c.191C>G (p.Thr64Ser) c.245C>G (p.Thr82Ser) | |
| 11 | g.116832775C>T | CA382711120 | APOC3 | c.191C>T (p.Thr64Ile) c.245C>T (p.Thr82Ile) | |
| 11 | g.116832776C>A | CA476868923 | APOC3 | c.192C>A (p.Thr64=) c.246C>A (p.Thr82=) | |
| 11 | g.116832776C= | CA2002760273 | APOC3 | c.192C= (p.Thr64=) c.246C= (p.Thr82=) | |
| 11 | g.116832776C>G | CA476868924 | APOC3 | c.192C>G (p.Thr64=) c.246C>G (p.Thr82=) | |
| 11 | g.116832776C>T | CA476868925 | APOC3 | c.192C>T (p.Thr64=) c.246C>T (p.Thr82=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116832777G>A | CA6289685 | APOC3 | c.193G>A (p.Asp65Asn) c.247G>A (p.Asp83Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116832777G>C | CA382711121 | APOC3 | c.193G>C (p.Asp65His) c.247G>C (p.Asp83His) | |
| 11 | g.116832777G= | CA2002760274 | APOC3 | c.193G= (p.Asp65=) c.247G= (p.Asp83=) | |
| 11 | g.116832777G>T | CA382711122 | APOC3 | c.193G>T (p.Asp65Tyr) c.247G>T (p.Asp83Tyr) | |
| 11 | g.116832778A>C | CA382711123 | APOC3 | c.194A>C (p.Asp65Ala) c.248A>C (p.Asp83Ala) | |
| 11 | g.116832778A>G | CA382711124 | APOC3 | c.194A>G (p.Asp65Gly) c.248A>G (p.Asp83Gly) | |
| 11 | g.116832778A>T | CA382711126 | APOC3 | c.194A>T (p.Asp65Val) c.248A>T (p.Asp83Val) | |
| 11 | g.116832779T>A | CA382711129 | APOC3 | c.195T>A (p.Asp65Glu) c.249T>A (p.Asp83Glu) | |
| 11 | g.116832779T>C | CA229320860 | APOC3 | c.195T>C (p.Asp65=) c.249T>C (p.Asp83=) | dbSNP |
| 11 | g.116832779T>G | CA382711131 | APOC3 | c.195T>G (p.Asp65Glu) c.249T>G (p.Asp83Glu) | |
| 11 | g.116832779T= | CA2002760275 | APOC3 | c.195T= (p.Asp65=) c.249T= (p.Asp83=) | |
| 11 | g.116832780G>A | CA382711133 | APOC3 | c.196G>A (p.Gly66Ser) c.250G>A (p.Gly84Ser) | dbSNP gnomAD v3 gnomAD v4 |