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.116790305_116790307del | CA2695215427 | APOA5 | c.926_928del (p.Glu309del) c.1010_1012del (p.Glu337del) | |
| 11 | g.116790302C>A | CA382734977 | APOA5 | c.927G>T (p.Glu309Asp) c.1011G>T (p.Glu337Asp) | |
| 11 | g.116790302C>G | CA382734979 | APOA5 | c.927G>C (p.Glu309Asp) c.1011G>C (p.Glu337Asp) | |
| 11 | g.116790302C>T | CA477047405 | APOA5 | c.927G>A (p.Glu309=) c.1011G>A (p.Glu337=) | |
| 11 | g.116790303T>A | CA382734983 | APOA5 | c.926A>T (p.Glu309Val) c.1010A>T (p.Glu337Val) | |
| 11 | g.116790303T>C | CA382734986 | APOA5 | c.926A>G (p.Glu309Gly) c.1010A>G (p.Glu337Gly) | |
| 11 | g.116790303T>G | CA382734990 | APOA5 | c.926A>C (p.Glu309Ala) c.1010A>C (p.Glu337Ala) | |
| 11 | g.116790304C>A | CA382734995 | APOA5 | c.925G>T (p.Glu309Ter) c.1009G>T (p.Glu337Ter) | |
| 11 | g.116790304C>G | CA382734998 | APOA5 | c.925G>C (p.Glu309Gln) c.1009G>C (p.Glu337Gln) | |
| 11 | g.116790304C>T | CA382735000 | APOA5 | c.925G>A (p.Glu309Lys) c.1009G>A (p.Glu337Lys) | |
| 11 | g.116790305C>A | CA382735002 | APOA5 | c.924G>T (p.Glu308Asp) c.1008G>T (p.Glu336Asp) | |
| 11 | g.116790305C>G | CA382735004 | APOA5 | c.924G>C (p.Glu308Asp) c.1008G>C (p.Glu336Asp) | |
| 11 | g.116790305C>T | CA477047407 | APOA5 | c.924G>A (p.Glu308=) c.1008G>A (p.Glu336=) | |
| 11 | g.116790306T>A | CA382735006 | APOA5 | c.923A>T (p.Glu308Val) c.1007A>T (p.Glu336Val) | |
| 11 | g.116790306T>C | CA382735010 | APOA5 | c.923A>G (p.Glu308Gly) c.1007A>G (p.Glu336Gly) | |
| 11 | g.116790306T>G | CA382735008 | APOA5 | c.923A>C (p.Glu308Ala) c.1007A>C (p.Glu336Ala) | |
| 11 | g.116790307C>A | CA382735013 | APOA5 | c.922G>T (p.Glu308Ter) c.1006G>T (p.Glu336Ter) | |
| 11 | g.116790307C>G | CA382735016 | APOA5 | c.922G>C (p.Glu308Gln) c.1006G>C (p.Glu336Gln) | gnomAD v4 |
| 11 | g.116790307C>T | CA382735018 | APOA5 | c.922G>A (p.Glu308Lys) c.1006G>A (p.Glu336Lys) | gnomAD v4 |
| 11 | g.116790308A= | CA2002740023 | APOA5 | c.921T= (p.Thr307=) c.1005T= (p.Thr335=) | |
| 11 | g.116790308A>C | CA477047412 | APOA5 | c.921T>G (p.Thr307=) c.1005T>G (p.Thr335=) | |
| 11 | g.116790308A>G | CA477047414 | APOA5 | c.921T>C (p.Thr307=) c.1005T>C (p.Thr335=) | dbSNP |
| 11 | g.116790308A>T | CA477047416 | APOA5 | c.921T>A (p.Thr307=) c.1005T>A (p.Thr335=) | gnomAD v4 |
| 11 | g.116790309G>A | CA382735022 | APOA5 | c.920C>T (p.Thr307Ile) c.1004C>T (p.Thr335Ile) | |
| 11 | g.116790309G>C | CA382735024 | APOA5 | c.920C>G (p.Thr307Ser) c.1004C>G (p.Thr335Ser) | |
| 11 | g.116790309G>T | CA382735027 | APOA5 | c.920C>A (p.Thr307Asn) c.1004C>A (p.Thr335Asn) | |
| 11 | g.116790310T>A | CA382735031 | APOA5 | c.919A>T (p.Thr307Ser) c.1003A>T (p.Thr335Ser) | |
| 11 | g.116790310T>C | CA6288960 | APOA5 | c.919A>G (p.Thr307Ala) c.1003A>G (p.Thr335Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116790310T>G | CA382735032 | APOA5 | c.919A>C (p.Thr307Pro) c.1003A>C (p.Thr335Pro) | |
| 11 | g.116790310T= | CA2002740025 | APOA5 | c.919A= (p.Thr307=) c.1003A= (p.Thr335=) | |
| 11 | g.116790311C>A | CA382735033 | APOA5 | c.918G>T (p.Glu306Asp) c.1002G>T (p.Glu334Asp) | |
| 11 | g.116790311C>G | CA382735036 | APOA5 | c.918G>C (p.Glu306Asp) c.1002G>C (p.Glu334Asp) | |
| 11 | g.116790311C>T | CA477047420 | APOA5 | c.918G>A (p.Glu306=) c.1002G>A (p.Glu334=) | gnomAD v4 |
| 11 | g.116790312T>A | CA382735041 | APOA5 | c.917A>T (p.Glu306Val) c.1001A>T (p.Glu334Val) | |
| 11 | g.116790312T>C | CA382735047 | APOA5 | c.917A>G (p.Glu306Gly) c.1001A>G (p.Glu334Gly) | |
| 11 | g.116790312T>G | CA382735037 | APOA5 | c.917A>C (p.Glu306Ala) c.1001A>C (p.Glu334Ala) | |
| 11 | g.116790313C>A | CA382735056 | APOA5 | c.916G>T (p.Glu306Ter) c.1000G>T (p.Glu334Ter) | |
| 11 | g.116790313C= | CA2002740030 | APOA5 | c.916G= (p.Glu306=) c.1000G= (p.Glu334=) | |
| 11 | g.116790313C>G | CA382735051 | APOA5 | c.916G>C (p.Glu306Gln) c.1000G>C (p.Glu334Gln) | |
| 11 | g.116790313C>T | CA229337236 | APOA5 | c.916G>A (p.Glu306Lys) c.1000G>A (p.Glu334Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.116790314C>A | CA382735060 | APOA5 | c.915G>T (p.Gln305His) c.999G>T (p.Gln333His) | |
| 11 | g.116790314C= | CA2002740034 | APOA5 | c.915G= (p.Gln305=) c.999G= (p.Gln333=) | |
| 11 | g.116790314C>G | CA382735062 | APOA5 | c.915G>C (p.Gln305His) c.999G>C (p.Gln333His) | |
| 11 | g.116790314C>T | CA477047426 | APOA5 | c.915G>A (p.Gln305=) c.999G>A (p.Gln333=) | dbSNP |
| 11 | g.116790315T>A | CA382735065 | APOA5 | c.914A>T (p.Gln305Leu) c.998A>T (p.Gln333Leu) | |
| 11 | g.116790315T>C | CA382735069 | APOA5 | c.914A>G (p.Gln305Arg) c.998A>G (p.Gln333Arg) | |
| 11 | g.116790315T>G | CA382735072 | APOA5 | c.914A>C (p.Gln305Pro) c.998A>C (p.Gln333Pro) | |
| 11 | g.116790316G>A | CA382735075 | APOA5 | c.913C>T (p.Gln305Ter) c.997C>T (p.Gln333Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790316G>C | CA382735076 | APOA5 | c.913C>G (p.Gln305Glu) c.997C>G (p.Gln333Glu) | |
| 11 | g.116790316G= | CA2002740036 | APOA5 | c.913C= (p.Gln305=) c.997C= (p.Gln333=) |