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.116830634G>A | CA382709695 | APOC3 | c.52G>A (p.Ala18Thr) c.106G>A (p.Ala36Thr) n.84G>A | |
| 11 | g.116830634G>C | CA382709697 | APOC3 | c.52G>C (p.Ala18Pro) c.106G>C (p.Ala36Pro) n.84G>C | |
| 11 | g.116830634G>T | CA382709698 | APOC3 | c.52G>T (p.Ala18Ser) c.106G>T (p.Ala36Ser) n.84G>T | |
| 11 | g.116830635C>A | CA382709705 | APOC3 | c.53C>A (p.Ala18Asp) c.107C>A (p.Ala36Asp) n.85C>A | |
| 11 | g.116830635C= | CA2002758813 | APOC3 | c.53C= (p.Ala18=) c.107C= (p.Ala36=) n.85C= | |
| 11 | g.116830635C>G | CA382709701 | APOC3 | c.53C>G (p.Ala18Gly) c.107C>G (p.Ala36Gly) n.85C>G | |
| 11 | g.116830635C>T | CA382709703 | APOC3 | c.53C>T (p.Ala18Val) c.107C>T (p.Ala36Val) n.85C>T | dbSNP gnomAD v2 |
| 11 | g.116830636C>A | CA477048370 | APOC3 | c.54C>A (p.Ala18=) c.108C>A (p.Ala36=) n.86C>A | |
| 11 | g.116830636C>G | CA477048371 | APOC3 | c.54C>G (p.Ala18=) c.108C>G (p.Ala36=) n.86C>G | |
| 11 | g.116830636C>T | CA477048372 | APOC3 | c.54C>T (p.Ala18=) c.108C>T (p.Ala36=) n.86C>T | gnomAD v4 |
| 11 | g.116830637C>A | CA477048373 | APOC3 | c.55C>A (p.Arg19=) c.109C>A (p.Arg37=) n.87C>A | |
| 11 | g.116830637C= | CA2002758814 | APOC3 | c.55C= (p.Arg19=) c.109C= (p.Arg37=) n.87C= | |
| 11 | g.116830637C>G | CA6289619 | APOC3 | c.55C>G (p.Arg19Gly) c.109C>G (p.Arg37Gly) n.87C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830637C>T | CA127531 | APOC3 | c.55C>T (p.Arg19Ter) c.109C>T (p.Arg37Ter) n.87C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830638G>A | CA163265 | APOC3 | c.55+1G>A (n.55+1G>A) c.109+1G>A (n.109+1G>A) n.87+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116830638G>C | CA382709710 | APOC3 | c.55+1G>C (n.55+1G>C) c.109+1G>C (n.109+1G>C) n.87+1G>C | |
| 11 | g.116830638G= | CA2002758815 | APOC3 | c.55+1G= (n.55+1G=) c.109+1G= (n.109+1G=) n.87+1G= | |
| 11 | g.116830638G>T | CA382709712 | APOC3 | c.55+1G>T (n.55+1G>T) c.109+1G>T (n.109+1G>T) n.87+1G>T | gnomAD v4 |
| 11 | g.116830639T>A | CA382709713 | APOC3 | c.55+2T>A (n.55+2T>A) c.109+2T>A (n.109+2T>A) n.87+2T>A | |
| 11 | g.116830639T>C | CA382709717 | APOC3 | c.55+2T>C (n.55+2T>C) c.109+2T>C (n.109+2T>C) n.87+2T>C | |
| 11 | g.116830639T>G | CA382709715 | APOC3 | c.55+2T>G (n.55+2T>G) c.109+2T>G (n.109+2T>G) n.87+2T>G | |
| 11 | g.116830641A>G | CA2616110909 | APOC3 | c.55+4A>G (n.55+4A>G) c.109+4A>G (n.109+4A>G) n.87+4A>G | gnomAD v4 |
| 11 | g.116830642G>A | CA2574986550 | APOC3 | c.55+5G>A (n.55+5G>A) c.109+5G>A (n.109+5G>A) n.87+5G>A | |
| 11 | g.116830645C= | CA2002758816 | APOC3 | c.55+8C= (n.55+8C=) c.109+8C= (n.109+8C=) n.87+8C= | |
| 11 | g.116830645C>G | CA2002758817 | APOC3 | c.55+8C>G (n.55+8C>G) c.109+8C>G (n.109+8C>G) n.87+8C>G | dbSNP gnomAD v4 |
| 11 | g.116830646T>C | CA2616110910 | APOC3 | c.55+9T>C (n.55+9T>C) c.109+9T>C (n.109+9T>C) n.87+9T>C | gnomAD v4 |
| 11 | g.116830647T>C | CA602136461 | APOC3 | c.55+10T>C (n.55+10T>C) c.109+10T>C (n.109+10T>C) n.87+10T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830647T= | CA2002758818 | APOC3 | c.55+10T= (n.55+10T=) c.109+10T= (n.109+10T=) n.87+10T= | |
| 11 | g.116830649G>C | CA2002758820 | APOC3 | c.55+12G>C (n.55+12G>C) c.109+12G>C (n.109+12G>C) n.87+12G>C | dbSNP gnomAD v4 |
| 11 | g.116830649G= | CA2002758819 | APOC3 | c.55+12G= (n.55+12G=) c.109+12G= (n.109+12G=) n.87+12G= | |
| 11 | g.116830651G>A | CA6289620 | APOC3 | c.55+14G>A (n.55+14G>A) c.109+14G>A (n.109+14G>A) n.87+14G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830651G= | CA2002758821 | APOC3 | c.55+14G= (n.55+14G=) c.109+14G= (n.109+14G=) n.87+14G= | |
| 11 | g.116830651G>T | CA2616110911 | APOC3 | c.55+14G>T (n.55+14G>T) c.109+14G>T (n.109+14G>T) n.87+14G>T | gnomAD v4 |
| 11 | g.116830652G>A | CA2002758823 | APOC3 | c.55+15G>A (n.55+15G>A) c.109+15G>A (n.109+15G>A) n.87+15G>A | dbSNP |
| 11 | g.116830652G>C | CA6289621 | APOC3 | c.55+15G>C (n.55+15G>C) c.109+15G>C (n.109+15G>C) n.87+15G>C | dbSNP ExAC gnomAD v2 |
| 11 | g.116830652G= | CA2002758822 | APOC3 | c.55+15G= (n.55+15G=) c.109+15G= (n.109+15G=) n.87+15G= | |
| 11 | g.116830653G>A | CA2616110912 | APOC3 | c.55+16G>A (n.55+16G>A) c.109+16G>A (n.109+16G>A) n.87+16G>A | gnomAD v4 |
| 11 | g.116830653G>C | CA2002758825 | APOC3 | c.55+16G>C (n.55+16G>C) c.109+16G>C (n.109+16G>C) n.87+16G>C | dbSNP |
| 11 | g.116830653G= | CA2002758824 | APOC3 | c.55+16G= (n.55+16G=) c.109+16G= (n.109+16G=) n.87+16G= | |
| 11 | g.116830654A= | CA2002758826 | APOC3 | c.55+17A= (n.55+17A=) c.109+17A= (n.109+17A=) n.87+17A= | |
| 11 | g.116830654A>G | CA602136463 | APOC3 | c.55+17A>G (n.55+17A>G) c.109+17A>G (n.109+17A>G) n.87+17A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116830656T>A | CA2616110913 | APOC3 | c.55+19T>A (n.55+19T>A) c.109+19T>A (n.109+19T>A) n.87+19T>A | gnomAD v4 |
| 11 | g.116830657G>A | CA2616110914 | APOC3 | c.55+20G>A (n.55+20G>A) c.109+20G>A (n.109+20G>A) n.87+20G>A | gnomAD v4 |
| 11 | g.116830657G>C | CA2616110915 | APOC3 | c.55+20G>C (n.55+20G>C) c.109+20G>C (n.109+20G>C) n.87+20G>C | gnomAD v4 |
| 11 | g.116830658G>A | CA6289622 | APOC3 | c.55+21G>A (n.55+21G>A) c.109+21G>A (n.109+21G>A) n.87+21G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830658G= | CA2002758827 | APOC3 | c.55+21G= (n.55+21G=) c.109+21G= (n.109+21G=) n.87+21G= | |
| 11 | g.116830659G>A | CA6289623 | APOC3 | c.55+22G>A (n.55+22G>A) c.109+22G>A (n.109+22G>A) n.87+22G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830659G= | CA2002758828 | APOC3 | c.55+22G= (n.55+22G=) c.109+22G= (n.109+22G=) n.87+22G= | |
| 11 | g.116830659G>T | CA2616110916 | APOC3 | c.55+22G>T (n.55+22G>T) c.109+22G>T (n.109+22G>T) n.87+22G>T | gnomAD v4 |