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 |
|---|---|---|---|---|---|
| 16 | g.74636354_74636369delinsAAAGAGGCCTGAGGAG | CA2232905906 | RFWD3 | c.1403_1418delinsCTCCTCAGGCCTCTTT (p.Ser468=) c.569_584delinsCTCCTCAGGCCTCTTT (p.Ser190=) | |
| 16 | g.74636358_74636372del | CA919741044 | RFWD3 | c.1403_1417del (p.Ser468_Ser472del) c.569_583del (p.Ser190_Ser194del) | dbSNP |
| 16 | g.74636367_74636369del | CA8169232 | RFWD3 | c.1406_1408del (p.Pro469del) c.572_574del (p.Pro191del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636368_74636373del | CA2732778627 | RFWD3 | c.1402_1407del (p.Ser468_Pro469del) c.568_573del (p.Ser190_Pro191del) | dbSNP |
| 16 | g.74636367G>A | CA396761396 | RFWD3 | c.1405C>T (p.Pro469Ser) c.571C>T (p.Pro191Ser) | gnomAD v4 |
| 16 | g.74636367G>C | CA396761398 | RFWD3 | c.1405C>G (p.Pro469Ala) c.571C>G (p.Pro191Ala) | |
| 16 | g.74636367G>T | CA396761400 | RFWD3 | c.1405C>A (p.Pro469Thr) c.571C>A (p.Pro191Thr) | |
| 16 | g.74636368A>C | CA496542392 | RFWD3 | c.1404T>G (p.Ser468=) c.570T>G (p.Ser190=) | |
| 16 | g.74636368A>G | CA496542394 | RFWD3 | c.1404T>C (p.Ser468=) c.570T>C (p.Ser190=) | |
| 16 | g.74636368A>T | CA496542396 | RFWD3 | c.1404T>A (p.Ser468=) c.570T>A (p.Ser190=) | |
| 16 | g.74636369G>A | CA396761402 | RFWD3 | c.1403C>T (p.Ser468Phe) c.569C>T (p.Ser190Phe) | |
| 16 | g.74636369G>C | CA396761405 | RFWD3 | c.1403C>G (p.Ser468Cys) c.569C>G (p.Ser190Cys) | |
| 16 | g.74636369G>T | CA396761404 | RFWD3 | c.1403C>A (p.Ser468Tyr) c.569C>A (p.Ser190Tyr) | |
| 16 | g.74636370A>C | CA396761408 | RFWD3 | c.1402T>G (p.Ser468Ala) c.568T>G (p.Ser190Ala) | |
| 16 | g.74636370A>G | CA396761410 | RFWD3 | c.1402T>C (p.Ser468Pro) c.568T>C (p.Ser190Pro) | |
| 16 | g.74636370A>T | CA396761412 | RFWD3 | c.1402T>A (p.Ser468Thr) c.568T>A (p.Ser190Thr) | |
| 16 | g.74636371A= | CA2232905914 | RFWD3 | c.1401T= (p.Pro467=) c.567T= (p.Pro189=) | |
| 16 | g.74636371A>C | CA496542401 | RFWD3 | c.1401T>G (p.Pro467=) c.567T>G (p.Pro189=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636371A>G | CA496542402 | RFWD3 | c.1401T>C (p.Pro467=) c.567T>C (p.Pro189=) | |
| 16 | g.74636371A>T | CA496542404 | RFWD3 | c.1401T>A (p.Pro467=) c.567T>A (p.Pro189=) | |
| 16 | g.74636372G>A | CA396761414 | RFWD3 | c.1400C>T (p.Pro467Leu) c.566C>T (p.Pro189Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636372G>C | CA396761416 | RFWD3 | c.1400C>G (p.Pro467Arg) c.566C>G (p.Pro189Arg) | |
| 16 | g.74636372G= | CA2232905915 | RFWD3 | c.1400C= (p.Pro467=) c.566C= (p.Pro189=) | |
| 16 | g.74636372G>T | CA396761417 | RFWD3 | c.1400C>A (p.Pro467His) c.566C>A (p.Pro189His) | |
| 16 | g.74636373G>A | CA396761419 | RFWD3 | c.1399C>T (p.Pro467Ser) c.565C>T (p.Pro189Ser) | ClinVar gnomAD v4 |
| 16 | g.74636373G>C | CA396761420 | RFWD3 | c.1399C>G (p.Pro467Ala) c.565C>G (p.Pro189Ala) | dbSNP |
| 16 | g.74636373G= | CA2232905916 | RFWD3 | c.1399C= (p.Pro467=) c.565C= (p.Pro189=) | |
| 16 | g.74636373G>T | CA396761426 | RFWD3 | c.1399C>A (p.Pro467Thr) c.565C>A (p.Pro189Thr) | |
| 16 | g.74636374C>A | CA396761429 | RFWD3 | c.1398G>T (p.Gln466His) c.564G>T (p.Gln188His) | |
| 16 | g.74636374C>G | CA396761431 | RFWD3 | c.1398G>C (p.Gln466His) c.564G>C (p.Gln188His) | gnomAD v4 |
| 16 | g.74636374C>T | CA496542413 | RFWD3 | c.1398G>A (p.Gln466=) c.564G>A (p.Gln188=) | |
| 16 | g.74636375T>A | CA396761433 | RFWD3 | c.1397A>T (p.Gln466Leu) c.563A>T (p.Gln188Leu) | |
| 16 | g.74636375T>C | CA396761437 | RFWD3 | c.1397A>G (p.Gln466Arg) c.563A>G (p.Gln188Arg) | |
| 16 | g.74636375T>G | CA396761435 | RFWD3 | c.1397A>C (p.Gln466Pro) c.563A>C (p.Gln188Pro) | |
| 16 | g.74636376G>A | CA396761440 | RFWD3 | c.1396C>T (p.Gln466Ter) c.562C>T (p.Gln188Ter) | |
| 16 | g.74636376G>C | CA396761442 | RFWD3 | c.1396C>G (p.Gln466Glu) c.562C>G (p.Gln188Glu) | |
| 16 | g.74636376G>T | CA396761444 | RFWD3 | c.1396C>A (p.Gln466Lys) c.562C>A (p.Gln188Lys) | |
| 16 | g.74636377T>A | CA496542429 | RFWD3 | c.1395A>T (p.Ser465=) c.561A>T (p.Ser187=) | |
| 16 | g.74636377T>C | CA496542425 | RFWD3 | c.1395A>G (p.Ser465=) c.561A>G (p.Ser187=) | |
| 16 | g.74636377T>G | CA496542426 | RFWD3 | c.1395A>C (p.Ser465=) c.561A>C (p.Ser187=) | gnomAD v4 |
| 16 | g.74636378G>A | CA396761446 | RFWD3 | c.1394C>T (p.Ser465Leu) c.560C>T (p.Ser187Leu) | |
| 16 | g.74636378G>C | CA396761449 | RFWD3 | c.1394C>G (p.Ser465Ter) c.560C>G (p.Ser187Ter) | |
| 16 | g.74636378G>T | CA396761450 | RFWD3 | c.1394C>A (p.Ser465Ter) c.560C>A (p.Ser187Ter) | |
| 16 | g.74636379A= | CA2232905917 | RFWD3 | c.1393T= (p.Ser465=) c.559T= (p.Ser187=) | |
| 16 | g.74636379A>C | CA396761453 | RFWD3 | c.1393T>G (p.Ser465Ala) c.559T>G (p.Ser187Ala) | |
| 16 | g.74636379A>G | CA396761455 | RFWD3 | c.1393T>C (p.Ser465Pro) c.559T>C (p.Ser187Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636379A>T | CA396761457 | RFWD3 | c.1393T>A (p.Ser465Thr) c.559T>A (p.Ser187Thr) | gnomAD v4 |
| 16 | g.74636380T>A | CA496542439 | RFWD3 | c.1392A>T (p.Ile464=) c.558A>T (p.Ile186=) | |
| 16 | g.74636380T>C | CA396761459 | RFWD3 | c.1392A>G (p.Ile464Met) c.558A>G (p.Ile186Met) | |
| 16 | g.74636380T>G | CA496542441 | RFWD3 | c.1392A>C (p.Ile464=) c.558A>C (p.Ile186=) |