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 |
|---|---|---|---|---|---|
| 1 | g.110064634G>A | CA116982 | ALX3,STRIP1 | c.547C>T (p.Arg183Trp) c.118C>T (p.Arg40Trp) n.4214-7821G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.110064634G>C | CA341584386 | ALX3,STRIP1 | c.547C>G (p.Arg183Gly) c.118C>G (p.Arg40Gly) n.4214-7821G>C | dbSNP |
| 1 | g.110064634G= | CA1141580972 | ALX3,STRIP1 | c.547C= (p.Arg183=) c.118C= (p.Arg40=) n.4214-7821G= | |
| 1 | g.110064634G>T | CA419401523 | ALX3,STRIP1 | c.547C>A (p.Arg183=) c.118C>A (p.Arg40=) n.4214-7821G>T | |
| 1 | g.110064634_110064635delinsAA | CA645537776 | ALX3,STRIP1 | c.546_547delinsTT (p.Arg183Trp) c.117_118delinsTT (p.Arg40Trp) n.4214-7821_4214-7820delinsAA | COSMIC |
| 1 | g.110064635G>A | CA419401524 | ALX3,STRIP1 | c.546C>T (p.Ala182=) c.117C>T (p.Ala39=) n.4214-7820G>A | |
| 1 | g.110064635G>C | CA419401525 | ALX3,STRIP1 | c.546C>G (p.Ala182=) c.117C>G (p.Ala39=) n.4214-7820G>C | |
| 1 | g.110064635G>T | CA419401526 | ALX3,STRIP1 | c.546C>A (p.Ala182=) c.117C>A (p.Ala39=) n.4214-7820G>T | |
| 1 | g.110064636G>A | CA341584391 | ALX3,STRIP1 | c.545C>T (p.Ala182Val) c.116C>T (p.Ala39Val) n.4214-7819G>A | |
| 1 | g.110064636G>C | CA341584393 | ALX3,STRIP1 | c.545C>G (p.Ala182Gly) c.116C>G (p.Ala39Gly) n.4214-7819G>C | |
| 1 | g.110064636G>T | CA341584395 | ALX3,STRIP1 | c.545C>A (p.Ala182Asp) c.116C>A (p.Ala39Asp) n.4214-7819G>T | |
| 1 | g.110064637C>A | CA341584398 | ALX3,STRIP1 | c.544G>T (p.Ala182Ser) c.115G>T (p.Ala39Ser) n.4214-7818C>A | |
| 1 | g.110064637C>G | CA341584401 | ALX3,STRIP1 | c.544G>C (p.Ala182Pro) c.115G>C (p.Ala39Pro) n.4214-7818C>G | |
| 1 | g.110064637C>T | CA341584404 | ALX3,STRIP1 | c.544G>A (p.Ala182Thr) c.115G>A (p.Ala39Thr) n.4214-7818C>T | |
| 1 | g.110064638A= | CA1141580973 | ALX3,STRIP1 | c.543T= (p.Tyr181=) c.114T= (p.Tyr38=) n.4214-7817A= | |
| 1 | g.110064638A>C | CA341584407 | ALX3,STRIP1 | c.543T>G (p.Tyr181Ter) c.114T>G (p.Tyr38Ter) n.4214-7817A>C | |
| 1 | g.110064638A>G | CA419401527 | ALX3,STRIP1 | c.543T>C (p.Tyr181=) c.114T>C (p.Tyr38=) n.4214-7817A>G | dbSNP |
| 1 | g.110064638A>T | CA116983 | ALX3,STRIP1 | c.543T>A (p.Tyr181Ter) c.114T>A (p.Tyr38Ter) n.4214-7817A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064639T>A | CA341584415 | ALX3,STRIP1 | c.542A>T (p.Tyr181Phe) c.113A>T (p.Tyr38Phe) n.4214-7816T>A | |
| 1 | g.110064639T>C | CA341584419 | ALX3,STRIP1 | c.542A>G (p.Tyr181Cys) c.113A>G (p.Tyr38Cys) n.4214-7816T>C | gnomAD v4 |
| 1 | g.110064639T>G | CA341584422 | ALX3,STRIP1 | c.542A>C (p.Tyr181Ser) c.113A>C (p.Tyr38Ser) n.4214-7816T>G | |
| 1 | g.110064640A>C | CA341584426 | ALX3,STRIP1 | c.541T>G (p.Tyr181Asp) c.112T>G (p.Tyr38Asp) n.4214-7815A>C | |
| 1 | g.110064640A>G | CA341584429 | ALX3,STRIP1 | c.541T>C (p.Tyr181His) c.112T>C (p.Tyr38His) n.4214-7815A>G | |
| 1 | g.110064640A>T | CA341584432 | ALX3,STRIP1 | c.541T>A (p.Tyr181Asn) c.112T>A (p.Tyr38Asn) n.4214-7815A>T | |
| 1 | g.110064641C>A | CA419686601 | ALX3,STRIP1 | c.540G>T (p.Val180=) c.111G>T (p.Val37=) n.4214-7814C>A | |
| 1 | g.110064641C= | CA1188354924 | ALX3,STRIP1 | c.540G= (p.Val180=) c.111G= (p.Val37=) n.4214-7814C= | |
| 1 | g.110064641C>G | CA419686603 | ALX3,STRIP1 | c.540G>C (p.Val180=) c.111G>C (p.Val37=) n.4214-7814C>G | |
| 1 | g.110064641C>T | CA419686605 | ALX3,STRIP1 | c.540G>A (p.Val180=) c.111G>A (p.Val37=) n.4214-7814C>T | dbSNP gnomAD v4 |
| 1 | g.110064642A= | CA1188354926 | ALX3,STRIP1 | c.539T= (p.Val180=) c.110T= (p.Val37=) n.4214-7813A= | |
| 1 | g.110064642A>C | CA341584441 | ALX3,STRIP1 | c.539T>G (p.Val180Gly) c.110T>G (p.Val37Gly) n.4214-7813A>C | |
| 1 | g.110064642A>G | CA341584439 | ALX3,STRIP1 | c.539T>C (p.Val180Ala) c.110T>C (p.Val37Ala) n.4214-7813A>G | dbSNP |
| 1 | g.110064642A>T | CA341584437 | ALX3,STRIP1 | c.539T>A (p.Val180Glu) c.110T>A (p.Val37Glu) n.4214-7813A>T | |
| 1 | g.110064642_110064645delinsACAT | CA1188354925 | ALX3,STRIP1 | c.536_539delinsATGT (p.Asp179=) c.107_110delinsATGT (p.Asp36=) n.4214-7813_4214-7810delinsACAT | |
| 1 | g.110064643C>A | CA341584444 | ALX3,STRIP1 | c.538G>T (p.Val180Leu) c.109G>T (p.Val37Leu) n.4214-7812C>A | |
| 1 | g.110064643C>G | CA341584448 | ALX3,STRIP1 | c.538G>C (p.Val180Leu) c.109G>C (p.Val37Leu) n.4214-7812C>G | |
| 1 | g.110064643C>T | CA341584451 | ALX3,STRIP1 | c.538G>A (p.Val180Met) c.109G>A (p.Val37Met) n.4214-7812C>T | |
| 1 | g.110064645_110064647del | CA525627330 | ALX3,STRIP1 | c.536_538del (p.Asp179del) c.107_109del (p.Asp36del) n.4214-7810_4214-7808del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.110064644A>C | CA341584454 | ALX3,STRIP1 | c.537T>G (p.Asp179Glu) c.108T>G (p.Asp36Glu) n.4214-7811A>C | |
| 1 | g.110064644A>G | CA419686613 | ALX3,STRIP1 | c.537T>C (p.Asp179=) c.108T>C (p.Asp36=) n.4214-7811A>G | gnomAD v4 |
| 1 | g.110064644A>T | CA341584457 | ALX3,STRIP1 | c.537T>A (p.Asp179Glu) c.108T>A (p.Asp36Glu) n.4214-7811A>T | |
| 1 | g.110064645T>A | CA341584460 | ALX3,STRIP1 | c.536A>T (p.Asp179Val) c.107A>T (p.Asp36Val) n.4214-7810T>A | |
| 1 | g.110064645T>C | CA341584463 | ALX3,STRIP1 | c.536A>G (p.Asp179Gly) c.107A>G (p.Asp36Gly) n.4214-7810T>C | |
| 1 | g.110064645T>G | CA341584465 | ALX3,STRIP1 | c.536A>C (p.Asp179Ala) c.107A>C (p.Asp36Ala) n.4214-7810T>G | |
| 1 | g.110064646C>A | CA341584469 | ALX3,STRIP1 | c.535G>T (p.Asp179Tyr) c.106G>T (p.Asp36Tyr) n.4214-7809C>A | |
| 1 | g.110064646C>G | CA341584471 | ALX3,STRIP1 | c.535G>C (p.Asp179His) c.106G>C (p.Asp36His) n.4214-7809C>G | gnomAD v4 |
| 1 | g.110064646C>T | CA341584473 | ALX3,STRIP1 | c.535G>A (p.Asp179Asn) c.106G>A (p.Asp36Asn) n.4214-7809C>T | |
| 1 | g.110064647A>C | CA419686626 | ALX3,STRIP1 | c.534T>G (p.Pro178=) c.105T>G (p.Pro35=) n.4214-7808A>C | |
| 1 | g.110064647A>G | CA419686628 | ALX3,STRIP1 | c.534T>C (p.Pro178=) c.105T>C (p.Pro35=) n.4214-7808A>G | gnomAD v4 |
| 1 | g.110064647A>T | CA419686631 | ALX3,STRIP1 | c.534T>A (p.Pro178=) c.105T>A (p.Pro35=) n.4214-7808A>T | |
| 1 | g.110064648G>A | CA341584477 | ALX3,STRIP1 | c.533C>T (p.Pro178Leu) c.104C>T (p.Pro35Leu) n.4214-7807G>A |