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 |
|---|---|---|---|---|---|
| 20 | g.4699517_4699520delinsGAAC | CA2347156490 | PRNP | c.297_300delinsGAAC (p.Trp99=) c.208_211delinsGAAC (p.Glu70=) | |
| 20 | g.4699518A>C | CA408152049 | PRNP | c.298A>C (p.Asn100His) c.209A>C (p.Glu70Ala) | |
| 20 | g.4699518A>G | CA408152050 | PRNP | c.298A>G (p.Asn100Asp) c.209A>G (p.Glu70Gly) | |
| 20 | g.4699518A>T | CA408152051 | PRNP | c.298A>T (p.Asn100Tyr) c.209A>T (p.Glu70Val) | |
| 20 | g.4699520_4699522del | CA2347156491 | PRNP | c.300_302del (p.Asn100del) c.211_213del (p.Gln71del) | dbSNP |
| 20 | g.4699519A>C | CA408152052 | PRNP | c.299A>C (p.Asn100Thr) c.210A>C (p.Glu70Asp) | |
| 20 | g.4699519A>G | CA408152054 | PRNP | c.299A>G (p.Asn100Ser) c.210A>G (p.Glu70=) | |
| 20 | g.4699519A>T | CA408152053 | PRNP | c.299A>T (p.Asn100Ile) c.210A>T (p.Glu70Asp) | |
| 20 | g.4699520C>A | CA408152055 | PRNP | c.300C>A (p.Asn100Lys) c.211C>A (p.Gln71Lys) | |
| 20 | g.4699520C= | CA2347156492 | PRNP | c.300C= (p.Asn100=) c.211C= (p.Gln71=) | |
| 20 | g.4699520C>G | CA408152056 | PRNP | c.300C>G (p.Asn100Lys) c.211C>G (p.Gln71Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.4699520C>T | CA509567334 | PRNP | c.300C>T (p.Asn100=) c.211C>T (p.Gln71Ter) | gnomAD v4 |
| 20 | g.4699521A>C | CA408152057 | PRNP | c.301A>C (p.Lys101Gln) c.212A>C (p.Gln71Pro) | |
| 20 | g.4699521A>G | CA408152058 | PRNP | c.301A>G (p.Lys101Glu) c.212A>G (p.Gln71Arg) | |
| 20 | g.4699521A>T | CA408152059 | PRNP | c.301A>T (p.Lys101Ter) c.212A>T (p.Gln71Leu) | |
| 20 | g.4699522A>C | CA408152060 | PRNP | c.302A>C (p.Lys101Thr) c.213A>C (p.Gln71His) | |
| 20 | g.4699522A>G | CA408152061 | PRNP | c.302A>G (p.Lys101Arg) c.213A>G (p.Gln71=) | |
| 20 | g.4699522A>T | CA408152062 | PRNP | c.302A>T (p.Lys101Met) c.213A>T (p.Gln71His) | gnomAD v4 |
| 20 | g.4699523G>A | CA509567338 | PRNP | c.303G>A (p.Lys101=) c.214G>A (p.Ala72Thr) | |
| 20 | g.4699523G>C | CA408152063 | PRNP | c.303G>C (p.Lys101Asn) c.214G>C (p.Ala72Pro) | |
| 20 | g.4699523G>T | CA408152064 | PRNP | c.303G>T (p.Lys101Asn) c.214G>T (p.Ala72Ser) | |
| 20 | g.4699524C>A | CA408152067 | PRNP | c.304C>A (p.Pro102Thr) c.215C>A (p.Ala72Asp) | |
| 20 | g.4699524C>G | CA408152066 | PRNP | c.304C>G (p.Pro102Ala) c.215C>G (p.Ala72Gly) | |
| 20 | g.4699524C>T | CA408152065 | PRNP | c.304C>T (p.Pro102Ser) c.215C>T (p.Ala72Val) | |
| 20 | g.4699525C>A | CA408152068 | PRNP | c.305C>A (p.Pro102Gln) c.216C>A (p.Ala72=) | |
| 20 | g.4699525C= | CA2347156493 | PRNP | c.305C= (p.Pro102=) c.216C= (p.Ala72=) | |
| 20 | g.4699525C>G | CA408152069 | PRNP | c.305C>G (p.Pro102Arg) c.216C>G (p.Ala72=) | |
| 20 | g.4699525C>T | CA256774 | PRNP | c.305C>T (p.Pro102Leu) c.216C>T (p.Ala72=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699526G>A | CA9752048 | PRNP | c.306G>A (p.Pro102=) c.217G>A (p.Glu73Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.4699526G>C | CA509567348 | PRNP | c.306G>C (p.Pro102=) c.217G>C (p.Glu73Gln) | |
| 20 | g.4699526G= | CA2347156494 | PRNP | c.306G= (p.Pro102=) c.217G= (p.Glu73=) | |
| 20 | g.4699526G>T | CA509567349 | PRNP | c.306G>T (p.Pro102=) c.217G>T (p.Glu73Ter) | |
| 20 | g.4699527A>C | CA408152070 | PRNP | c.307A>C (p.Ser103Arg) c.218A>C (p.Glu73Ala) | |
| 20 | g.4699527A>G | CA408152071 | PRNP | c.307A>G (p.Ser103Gly) c.218A>G (p.Glu73Gly) | |
| 20 | g.4699527A>T | CA408152072 | PRNP | c.307A>T (p.Ser103Cys) c.218A>T (p.Glu73Val) | |
| 20 | g.4699528G>A | CA408152073 | PRNP | c.308G>A (p.Ser103Asn) c.219G>A (p.Glu73=) | |
| 20 | g.4699528G>C | CA408152074 | PRNP | c.308G>C (p.Ser103Thr) c.219G>C (p.Glu73Asp) | |
| 20 | g.4699528G>T | CA408152075 | PRNP | c.308G>T (p.Ser103Ile) c.219G>T (p.Glu73Asp) | |
| 20 | g.4699529T>A | CA408152076 | PRNP | c.309T>A (p.Ser103Arg) c.220T>A (p.Ter74Lys) | |
| 20 | g.4699529T>C | CA509567356 | PRNP | c.309T>C (p.Ser103=) c.220T>C (p.Ter74Gln) | |
| 20 | g.4699529T>G | CA408152077 | PRNP | c.309T>G (p.Ser103Arg) c.220T>G (p.Ter74Glu) | |
| 20 | g.4699530A>C | CA408152079 | PRNP | c.310A>C (p.Lys104Gln) c.221A>C (p.Ter74Ser) | |
| 20 | g.4699530A>G | CA408152080 | PRNP | c.310A>G (p.Lys104Glu) c.221A>G (p.Ter74=) | |
| 20 | g.4699530A>T | CA408152078 | PRNP | c.310A>T (p.Lys104Ter) c.221A>T (p.Ter74Leu) | |
| 20 | g.4699531A>C | CA408152081 | PRNP | c.311A>C (p.Lys104Thr) c.222A>C (p.Ter74Tyr) | |
| 20 | g.4699531A>G | CA408152082 | PRNP | c.311A>G (p.Lys104Arg) c.222A>G (p.Ter74=) | |
| 20 | g.4699531A>T | CA408152083 | PRNP | c.311A>T (p.Lys104Met) c.222A>T (p.Ter74Tyr) | |
| 20 | g.4699532G>A | CA509567364 | PRNP | c.312G>A (p.Lys104=) c.*1G>A (n.*1G>A) | |
| 20 | g.4699532G>C | CA408152084 | PRNP | c.312G>C (p.Lys104Asn) c.*1G>C (n.*1G>C) | |
| 20 | g.4699532G>T | CA408152085 | PRNP | c.312G>T (p.Lys104Asn) c.*1G>T (n.*1G>T) |