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.116830612C>A | CA477048348 | APOC3 | c.30C>A (p.Ala10=) c.84C>A (p.Ala28=) n.62C>A | |
| 11 | g.116830612C= | CA2002758802 | APOC3 | c.30C= (p.Ala10=) c.84C= (p.Ala28=) n.62C= | |
| 11 | g.116830612C>G | CA477048349 | APOC3 | c.30C>G (p.Ala10=) c.84C>G (p.Ala28=) n.62C>G | |
| 11 | g.116830612C>T | CA6289613 | APOC3 | c.30C>T (p.Ala10=) c.84C>T (p.Ala28=) n.62C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830613C>A | CA382709615 | APOC3 | c.31C>A (p.Leu11Ile) c.85C>A (p.Leu29Ile) n.63C>A | |
| 11 | g.116830613C>G | CA382709616 | APOC3 | c.31C>G (p.Leu11Val) c.85C>G (p.Leu29Val) n.63C>G | |
| 11 | g.116830613C>T | CA382709618 | APOC3 | c.31C>T (p.Leu11Phe) c.85C>T (p.Leu29Phe) n.63C>T | gnomAD v4 |
| 11 | g.116830621_116830629del | CA942637541 | APOC3 | c.39_47del (p.Leu14_Ala16del) c.93_101del (p.Leu32_Ala34del) n.71_79del | gnomAD v3 gnomAD v4 |
| 11 | g.116830614T>A | CA382709621 | APOC3 | c.32T>A (p.Leu11His) c.86T>A (p.Leu29His) n.64T>A | dbSNP |
| 11 | g.116830614T>C | CA382709624 | APOC3 | c.32T>C (p.Leu11Pro) c.86T>C (p.Leu29Pro) n.64T>C | |
| 11 | g.116830614T>G | CA382709622 | APOC3 | c.32T>G (p.Leu11Arg) c.86T>G (p.Leu29Arg) n.64T>G | |
| 11 | g.116830614T= | CA2002758803 | APOC3 | c.32T= (p.Leu11=) c.86T= (p.Leu29=) n.64T= | |
| 11 | g.116830615C>A | CA477048350 | APOC3 | c.33C>A (p.Leu11=) c.87C>A (p.Leu29=) n.65C>A | |
| 11 | g.116830615C= | CA2002758804 | APOC3 | c.33C= (p.Leu11=) c.87C= (p.Leu29=) n.65C= | |
| 11 | g.116830615C>G | CA477048351 | APOC3 | c.33C>G (p.Leu11=) c.87C>G (p.Leu29=) n.65C>G | |
| 11 | g.116830615C>T | CA6289614 | APOC3 | c.33C>T (p.Leu11=) c.87C>T (p.Leu29=) n.65C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830616C>A | CA382709629 | APOC3 | c.34C>A (p.Leu12Met) c.88C>A (p.Leu30Met) n.66C>A | |
| 11 | g.116830616C>G | CA382709627 | APOC3 | c.34C>G (p.Leu12Val) c.88C>G (p.Leu30Val) n.66C>G | |
| 11 | g.116830616C>T | CA477048352 | APOC3 | c.34C>T (p.Leu12=) c.88C>T (p.Leu30=) n.66C>T | |
| 11 | g.116830617T>A | CA382709635 | APOC3 | c.35T>A (p.Leu12Gln) c.89T>A (p.Leu30Gln) n.67T>A | |
| 11 | g.116830617T>C | CA382709632 | APOC3 | c.35T>C (p.Leu12Pro) c.89T>C (p.Leu30Pro) n.67T>C | |
| 11 | g.116830617T>G | CA382709633 | APOC3 | c.35T>G (p.Leu12Arg) c.89T>G (p.Leu30Arg) n.67T>G | |
| 11 | g.116830617dup | CA2574986549 | APOC3 | c.35dup (p.Ala13GlyfsTer?) c.89dup (p.Ala31GlyfsTer?) n.67dup | gnomAD v4 |
| 11 | g.116830618G>A | CA477048353 | APOC3 | c.36G>A (p.Leu12=) c.90G>A (p.Leu30=) n.68G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830618G>C | CA477048355 | APOC3 | c.36G>C (p.Leu12=) c.90G>C (p.Leu30=) n.68G>C | |
| 11 | g.116830618G= | CA2002758805 | APOC3 | c.36G= (p.Leu12=) c.90G= (p.Leu30=) n.68G= | |
| 11 | g.116830618G>T | CA477048354 | APOC3 | c.36G>T (p.Leu12=) c.90G>T (p.Leu30=) n.68G>T | |
| 11 | g.116830619G>A | CA382709638 | APOC3 | c.37G>A (p.Ala13Thr) c.91G>A (p.Ala31Thr) n.69G>A | |
| 11 | g.116830619G>C | CA382709639 | APOC3 | c.37G>C (p.Ala13Pro) c.91G>C (p.Ala31Pro) n.69G>C | |
| 11 | g.116830619G>T | CA382709641 | APOC3 | c.37G>T (p.Ala13Ser) c.91G>T (p.Ala31Ser) n.69G>T | |
| 11 | g.116830620C>A | CA382709644 | APOC3 | c.38C>A (p.Ala13Glu) c.92C>A (p.Ala31Glu) n.70C>A | dbSNP gnomAD v4 |
| 11 | g.116830620C= | CA2002758806 | APOC3 | c.38C= (p.Ala13=) c.92C= (p.Ala31=) n.70C= | |
| 11 | g.116830620C>G | CA382709645 | APOC3 | c.38C>G (p.Ala13Gly) c.92C>G (p.Ala31Gly) n.70C>G | |
| 11 | g.116830620C>T | CA6289615 | APOC3 | c.38C>T (p.Ala13Val) c.92C>T (p.Ala31Val) n.70C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116830621G>A | CA6289616 | APOC3 | c.39G>A (p.Ala13=) c.93G>A (p.Ala31=) n.71G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830621G>C | CA477048356 | APOC3 | c.39G>C (p.Ala13=) c.93G>C (p.Ala31=) n.71G>C | |
| 11 | g.116830621G= | CA2002758807 | APOC3 | c.39G= (p.Ala13=) c.93G= (p.Ala31=) n.71G= | |
| 11 | g.116830621G>T | CA477048357 | APOC3 | c.39G>T (p.Ala13=) c.93G>T (p.Ala31=) n.71G>T | |
| 11 | g.116830622C>A | CA382709649 | APOC3 | c.40C>A (p.Leu14Ile) c.94C>A (p.Leu32Ile) n.72C>A | |
| 11 | g.116830622C= | CA2002758808 | APOC3 | c.40C= (p.Leu14=) c.94C= (p.Leu32=) n.72C= | |
| 11 | g.116830622C>G | CA382709650 | APOC3 | c.40C>G (p.Leu14Val) c.94C>G (p.Leu32Val) n.72C>G | |
| 11 | g.116830622C>T | CA6289617 | APOC3 | c.40C>T (p.Leu14Phe) c.94C>T (p.Leu32Phe) n.72C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116830623T>A | CA382709658 | APOC3 | c.41T>A (p.Leu14His) c.95T>A (p.Leu32His) n.73T>A | |
| 11 | g.116830623T>C | CA382709656 | APOC3 | c.41T>C (p.Leu14Pro) c.95T>C (p.Leu32Pro) n.73T>C | |
| 11 | g.116830623T>G | CA382709653 | APOC3 | c.41T>G (p.Leu14Arg) c.95T>G (p.Leu32Arg) n.73T>G | |
| 11 | g.116830624C>A | CA477048358 | APOC3 | c.42C>A (p.Leu14=) c.96C>A (p.Leu32=) n.74C>A | |
| 11 | g.116830624C>G | CA477048359 | APOC3 | c.42C>G (p.Leu14=) c.96C>G (p.Leu32=) n.74C>G | |
| 11 | g.116830624C>T | CA477048360 | APOC3 | c.42C>T (p.Leu14=) c.96C>T (p.Leu32=) n.74C>T | |
| 11 | g.116830625C>A | CA382709660 | APOC3 | c.43C>A (p.Leu15Met) c.97C>A (p.Leu33Met) n.75C>A | dbSNP gnomAD v2 |