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.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 |
| 11 | g.116830660C>A | CA2002758830 | APOC3 | c.55+23C>A (n.55+23C>A) c.109+23C>A (n.109+23C>A) n.87+23C>A | dbSNP |
| 11 | g.116830660C= | CA2002758829 | APOC3 | c.55+23C= (n.55+23C=) c.109+23C= (n.109+23C=) n.87+23C= | |
| 11 | g.116830661T>G | CA2616110917 | APOC3 | c.55+24T>G (n.55+24T>G) c.109+24T>G (n.109+24T>G) n.87+24T>G | gnomAD v4 |
| 11 | g.116830663G= | CA2002758831 | APOC3 | c.55+26G= (n.55+26G=) c.109+26G= (n.109+26G=) n.87+26G= | |
| 11 | g.116830663G>T | CA6289624 | APOC3 | c.55+26G>T (n.55+26G>T) c.109+26G>T (n.109+26G>T) n.87+26G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830664G>A | CA602136464 | APOC3 | c.55+27G>A (n.55+27G>A) c.109+27G>A (n.109+27G>A) n.87+27G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116830664G>C | CA6289625 | APOC3 | c.55+27G>C (n.55+27G>C) c.109+27G>C (n.109+27G>C) n.87+27G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830664G= | CA2002758832 | APOC3 | c.55+27G= (n.55+27G=) c.109+27G= (n.109+27G=) n.87+27G= | |
| 11 | g.116830665G>A | CA6289626 | APOC3 | c.55+28G>A (n.55+28G>A) c.109+28G>A (n.109+28G>A) n.87+28G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116830665G= | CA2002758833 | APOC3 | c.55+28G= (n.55+28G=) c.109+28G= (n.109+28G=) n.87+28G= | |
| 11 | g.116830666G>T | CA2616110918 | APOC3 | c.55+29G>T (n.55+29G>T) c.109+29G>T (n.109+29G>T) n.87+29G>T | gnomAD v4 |
| 11 | g.116830667C>A | CA672199108 | APOC3 | c.55+30C>A (n.55+30C>A) c.109+30C>A (n.109+30C>A) n.87+30C>A | dbSNP |
| 11 | g.116830667C= | CA2002758834 | APOC3 | c.55+30C= (n.55+30C=) c.109+30C= (n.109+30C=) n.87+30C= | |
| 11 | g.116830667C>T | CA6289627 | APOC3 | c.55+30C>T (n.55+30C>T) c.109+30C>T (n.109+30C>T) n.87+30C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116830668A= | CA2002758835 | APOC3 | c.55+31A= (n.55+31A=) c.109+31A= (n.109+31A=) n.87+31A= | |
| 11 | g.116830668A>C | CA602136465 | APOC3 | c.55+31A>C (n.55+31A>C) c.109+31A>C (n.109+31A>C) n.87+31A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116830669G>C | CA672199126 | APOC3 | c.55+32G>C (n.55+32G>C) c.109+32G>C (n.109+32G>C) n.87+32G>C | dbSNP |
| 11 | g.116830669G= | CA2002758836 | APOC3 | c.55+32G= (n.55+32G=) c.109+32G= (n.109+32G=) n.87+32G= | |
| 11 | g.116830669G>T | CA2574986551 | APOC3 | c.55+32G>T (n.55+32G>T) c.109+32G>T (n.109+32G>T) n.87+32G>T | |
| 11 | g.116830670G>A | CA2574986552 | APOC3 | c.55+33G>A (n.55+33G>A) c.109+33G>A (n.109+33G>A) n.87+33G>A | gnomAD v4 |
| 11 | g.116830671G>A | CA2616110919 | APOC3 | c.55+34G>A (n.55+34G>A) c.109+34G>A (n.109+34G>A) n.87+34G>A | gnomAD v4 |
| 11 | g.116830671G= | CA2002758837 | APOC3 | c.55+34G= (n.55+34G=) c.109+34G= (n.109+34G=) n.87+34G= | |
| 11 | g.116830671G>T | CA942637574 | APOC3 | c.55+34G>T (n.55+34G>T) c.109+34G>T (n.109+34G>T) n.87+34G>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116830673G>A | CA6289628 | APOC3 | c.55+36G>A (n.55+36G>A) c.109+36G>A (n.109+36G>A) n.87+36G>A | dbSNP ExAC gnomAD v4 |
| 11 | g.116830673G= | CA2002758838 | APOC3 | c.55+36G= (n.55+36G=) c.109+36G= (n.109+36G=) n.87+36G= |