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.33717392_33717393delinsAT | CA1962917746 | CD59 | c.139_140delinsAT (p.Met47=) c.146_147delinsAT (p.Asp49=) c.45_46delinsAT n.2219_2220delinsAT | |
| 11 | g.33717393del | CA150632 | CD59 | c.139del (p.Met47CysfsTer13) c.146del (p.Asp49ValfsTer?) c.146del (p.Asp49ValfsTer27) c.146del (p.Asp49ValfsTer29) c.45del n.2219del | ClinVar dbSNP gnomAD v4 |
| 11 | g.33717393T>A | CA380021238 | CD59 | c.139A>T (p.Met47Leu) c.146A>T (p.Asp49Val) c.45A>T n.2219A>T | gnomAD v4 |
| 11 | g.33717393T>C | CA380021239 | CD59 | c.139A>G (p.Met47Val) c.146A>G (p.Asp49Gly) c.45A>G n.2219A>G | gnomAD v4 |
| 11 | g.33717393T>G | CA380021240 | CD59 | c.139A>C (p.Met47Leu) c.146A>C (p.Asp49Ala) c.45A>C n.2219A>C | |
| 11 | g.33717394C>A | CA380021241 | CD59 | c.138G>T (p.Leu46Phe) c.145G>T (p.Asp49Tyr) c.44G>T n.2218G>T | |
| 11 | g.33717394C>G | CA380021242 | CD59 | c.138G>C (p.Leu46Phe) c.145G>C (p.Asp49His) c.44G>C n.2218G>C | gnomAD v4 |
| 11 | g.33717394C>T | CA380021243 | CD59 | c.138G>A (p.Leu46=) c.145G>A (p.Asp49Asn) c.44G>A n.2218G>A | |
| 11 | g.33717395A>C | CA380021244 | CD59 | c.137T>G (p.Leu46Trp) c.144T>G (p.Phe48Leu) c.43T>G n.2217T>G | |
| 11 | g.33717395A>G | CA473598174 | CD59 | c.137T>C (p.Leu46Ser) c.144T>C (p.Phe48=) c.43T>C n.2217T>C | |
| 11 | g.33717395A>T | CA380021245 | CD59 | c.137T>A (p.Leu46Ter) c.144T>A (p.Phe48Leu) c.43T>A n.2217T>A | |
| 11 | g.33717396A>C | CA380021247 | CD59 | c.136T>G (p.Leu46Val) c.143T>G (p.Phe48Cys) c.42T>G n.2216T>G | |
| 11 | g.33717396A>G | CA380021248 | CD59 | c.136T>C (p.Leu46=) c.143T>C (p.Phe48Ser) c.42T>C n.2216T>C | |
| 11 | g.33717396A>T | CA380021246 | CD59 | c.136T>A (p.Leu46Met) c.143T>A (p.Phe48Tyr) c.42T>A n.2216T>A | |
| 11 | g.33717397A>C | CA380021249 | CD59 | c.135T>G (p.Ile45Met) c.142T>G (p.Phe48Val) c.41T>G n.2215T>G | |
| 11 | g.33717397A>G | CA380021250 | CD59 | c.135T>C (p.Ile45=) c.142T>C (p.Phe48Leu) c.41T>C n.2215T>C | |
| 11 | g.33717397A>T | CA380021251 | CD59 | c.135T>A (p.Ile45=) c.142T>A (p.Phe48Ile) c.41T>A n.2215T>A | |
| 11 | g.33717398A>C | CA380021252 | CD59 | c.134T>G (p.Ile45Ser) c.141T>G (p.Asp47Glu) c.40T>G n.2214T>G | |
| 11 | g.33717398A>G | CA473598175 | CD59 | c.134T>C (p.Ile45Thr) c.141T>C (p.Asp47=) c.40T>C n.2214T>C | |
| 11 | g.33717398A>T | CA380021253 | CD59 | c.134T>A (p.Ile45Asn) c.141T>A (p.Asp47Glu) c.40T>A n.2214T>A | |
| 11 | g.33717399T>A | CA380021254 | CD59 | c.133A>T (p.Ile45Phe) c.140A>T (p.Asp47Val) c.39A>T n.2213A>T | |
| 11 | g.33717399T>C | CA380021255 | CD59 | c.133A>G (p.Ile45Val) c.140A>G (p.Asp47Gly) c.39A>G n.2213A>G | |
| 11 | g.33717399T>G | CA380021256 | CD59 | c.133A>C (p.Ile45Leu) c.140A>C (p.Asp47Ala) c.39A>C n.2213A>C | |
| 11 | g.33717400C>A | CA380021257 | CD59 | c.132G>T (p.Leu44=) c.139G>T (p.Asp47Tyr) c.38G>T n.2212G>T | |
| 11 | g.33717400C>G | CA380021258 | CD59 | c.132G>C (p.Leu44=) c.139G>C (p.Asp47His) c.38G>C n.2212G>C | |
| 11 | g.33717400C>T | CA380021259 | CD59 | c.132G>A (p.Leu44=) c.139G>A (p.Asp47Asn) c.38G>A n.2212G>A | |
| 11 | g.33717401A>C | CA473598176 | CD59 | c.131T>G (p.Leu44Arg) c.138T>G (p.Ser46=) c.37T>G n.2211T>G | gnomAD v4 |
| 11 | g.33717401A>G | CA473598177 | CD59 | c.131T>C (p.Leu44Pro) c.138T>C (p.Ser46=) c.37T>C n.2211T>C | |
| 11 | g.33717401A>T | CA473598178 | CD59 | c.131T>A (p.Leu44Gln) c.138T>A (p.Ser46=) c.37T>A n.2211T>A | |
| 11 | g.33717402G>A | CA380021261 | CD59 | c.130C>T (p.Leu44=) c.137C>T (p.Ser46Phe) c.36C>T n.2210C>T | |
| 11 | g.33717402G>C | CA380021262 | CD59 | c.130C>G (p.Leu44Val) c.137C>G (p.Ser46Cys) c.36C>G n.2210C>G | |
| 11 | g.33717402G>T | CA380021260 | CD59 | c.130C>A (p.Leu44Met) c.137C>A (p.Ser46Tyr) c.36C>A n.2210C>A | |
| 11 | g.33717403A>C | CA380021263 | CD59 | c.129T>G (p.His43Gln) c.136T>G (p.Ser46Ala) c.35T>G n.2209T>G | |
| 11 | g.33717403A>G | CA380021264 | CD59 | c.129T>C (p.His43=) c.136T>C (p.Ser46Pro) c.35T>C n.2209T>C | |
| 11 | g.33717403A>T | CA380021265 | CD59 | c.129T>A (p.His43Gln) c.136T>A (p.Ser46Thr) c.35T>A n.2209T>A | |
| 11 | g.33717404T>A | CA473598179 | CD59 | c.128A>T (p.His43Leu) c.135A>T (p.Ser45=) c.34A>T n.2208A>T | |
| 11 | g.33717404T>C | CA473598180 | CD59 | c.128A>G (p.His43Arg) c.135A>G (p.Ser45=) c.34A>G n.2208A>G | |
| 11 | g.33717404T>G | CA473598181 | CD59 | c.128A>C (p.His43Pro) c.135A>C (p.Ser45=) c.34A>C n.2208A>C | |
| 11 | g.33717405G>A | CA380021266 | CD59 | c.127C>T (p.His43Tyr) c.134C>T (p.Ser45Leu) c.33C>T n.2207C>T | |
| 11 | g.33717405G>C | CA380021267 | CD59 | c.127C>G (p.His43Asp) c.134C>G (p.Ser45Ter) c.33C>G n.2207C>G | |
| 11 | g.33717405G>T | CA380021268 | CD59 | c.127C>A (p.His43Asn) c.134C>A (p.Ser45Ter) c.33C>A n.2207C>A | |
| 11 | g.33717406A= | CA1962917754 | CD59 | c.126T= (p.Val42=) c.133T= (p.Ser45=) c.32T= n.2206T= | |
| 11 | g.33717406A>C | CA380021269 | CD59 | c.126T>G (p.Val42=) c.133T>G (p.Ser45Ala) c.32T>G n.2206T>G | |
| 11 | g.33717406A>G | CA5940764 | CD59 | c.126T>C (p.Val42=) c.133T>C (p.Ser45Pro) c.32T>C n.2206T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.33717406A>T | CA380021270 | CD59 | c.126T>A (p.Val42=) c.133T>A (p.Ser45Thr) c.32T>A n.2206T>A | |
| 11 | g.33717407A>C | CA380021271 | CD59 | c.125T>G (p.Val42Gly) c.132T>G (p.Cys44Trp) c.31T>G n.2205T>G | |
| 11 | g.33717407A>G | CA473598182 | CD59 | c.125T>C (p.Val42Ala) c.132T>C (p.Cys44=) c.31T>C n.2205T>C | |
| 11 | g.33717407A>T | CA380021272 | CD59 | c.125T>A (p.Val42Asp) c.132T>A (p.Cys44Ter) c.31T>A n.2205T>A | |
| 11 | g.33717408C>A | CA219599913 | CD59 | c.124G>T (p.Val42Phe) c.131G>T (p.Cys44Phe) c.30G>T n.2204G>T | dbSNP gnomAD v4 |
| 11 | g.33717408C= | CA1962917757 | CD59 | c.124G= (p.Val42=) c.131G= (p.Cys44=) c.30G= n.2204G= |