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.171847_181556del | CA916083461 | ClinVar | ||
| 16 | g.172001_181401del | CA916083462 | ClinVar | ||
| 16 | g.172005_177200del | CA16602274 | ClinVar | ||
| 16 | g.173384_177187del | CA16602246 | ClinVar | ||
| 16 | g.173551A= | CA2200880950 | HBA2 | c.380A= (p.Asp127=) c.284A= (p.Asp95=) n.516A= | |
| 16 | g.173551A>C | CA393994579 | HBA2 | c.380A>C (p.Asp127Ala) c.284A>C (p.Asp95Ala) n.516A>C | |
| 16 | g.173551A>G | CA276415454 | HBA2 | c.380A>G (p.Asp127Gly) c.284A>G (p.Asp95Gly) n.516A>G | ClinVar dbSNP |
| 16 | g.173551A>T | CA276415455 | HBA2 | c.380A>T (p.Asp127Val) c.284A>T (p.Asp95Val) n.516A>T | dbSNP |
| 16 | g.173552C>A | CA393994581 | HBA2 | c.381C>A (p.Asp127Glu) c.285C>A (p.Asp95Glu) n.517C>A | dbSNP |
| 16 | g.173552C= | CA2200880951 | HBA2 | c.381C= (p.Asp127=) c.285C= (p.Asp95=) n.517C= | |
| 16 | g.173552C>G | CA393994582 | HBA2 | c.381C>G (p.Asp127Glu) c.285C>G (p.Asp95Glu) n.517C>G | dbSNP |
| 16 | g.173552C>T | CA492785444 | HBA2 | c.381C>T (p.Asp127=) c.285C>T (p.Asp95=) n.517C>T | |
| 16 | g.173553A= | CA2200880952 | HBA2 | c.382A= (p.Lys128=) c.286A= (p.Lys96=) n.518A= | |
| 16 | g.173553A>C | CA393994583 | HBA2 | c.382A>C (p.Lys128Gln) c.286A>C (p.Lys96Gln) n.518A>C | |
| 16 | g.173553A>G | CA276415458 | HBA2 | c.382A>G (p.Lys128Glu) c.286A>G (p.Lys96Glu) n.518A>G | dbSNP |
| 16 | g.173553A>T | CA393994585 | HBA2 | c.382A>T (p.Lys128Ter) c.286A>T (p.Lys96Ter) n.518A>T | |
| 16 | g.173554A= | CA2200880953 | HBA2 | c.383A= (p.Lys128=) c.287A= (p.Lys96=) n.519A= | |
| 16 | g.173554A>C | CA276415461 | HBA2 | c.383A>C (p.Lys128Thr) c.287A>C (p.Lys96Thr) n.519A>C | ClinVar dbSNP |
| 16 | g.173554A>G | CA393994588 | HBA2 | c.383A>G (p.Lys128Arg) c.287A>G (p.Lys96Arg) n.519A>G | |
| 16 | g.173554A>T | CA393994589 | HBA2 | c.383A>T (p.Lys128Met) c.287A>T (p.Lys96Met) n.519A>T | |
| 16 | g.173555G>A | CA492785453 | HBA2 | c.384G>A (p.Lys128=) c.288G>A (p.Lys96=) n.520G>A | |
| 16 | g.173555G>C | CA276415462 | HBA2 | c.384G>C (p.Lys128Asn) c.288G>C (p.Lys96Asn) n.520G>C | dbSNP gnomAD v4 |
| 16 | g.173555G= | CA2200880954 | HBA2 | c.384G= (p.Lys128=) c.288G= (p.Lys96=) n.520G= | |
| 16 | g.173555G>T | CA276415464 | HBA2 | c.384G>T (p.Lys128Asn) c.288G>T (p.Lys96Asn) n.520G>T | dbSNP |
| 16 | g.173556T>A | CA393994592 | HBA2 | c.385T>A (p.Phe129Ile) c.289T>A (p.Phe97Ile) n.521T>A | |
| 16 | g.173556T>C | CA393994594 | HBA2 | c.385T>C (p.Phe129Leu) c.289T>C (p.Phe97Leu) n.521T>C | gnomAD v4 |
| 16 | g.173556T>G | CA393994596 | HBA2 | c.385T>G (p.Phe129Val) c.289T>G (p.Phe97Val) n.521T>G | |
| 16 | g.173557T>A | CA393994601 | HBA2 | c.386T>A (p.Phe129Tyr) c.290T>A (p.Phe97Tyr) n.522T>A | |
| 16 | g.173557T>C | CA393994599 | HBA2 | c.386T>C (p.Phe129Ser) c.290T>C (p.Phe97Ser) n.522T>C | |
| 16 | g.173557T>G | CA393994597 | HBA2 | c.386T>G (p.Phe129Cys) c.290T>G (p.Phe97Cys) n.522T>G | |
| 16 | g.173558C>A | CA393994602 | HBA2 | c.387C>A (p.Phe129Leu) c.291C>A (p.Phe97Leu) n.523C>A | |
| 16 | g.173558C>G | CA393994603 | HBA2 | c.387C>G (p.Phe129Leu) c.291C>G (p.Phe97Leu) n.523C>G | |
| 16 | g.173558C>T | CA492785467 | HBA2 | c.387C>T (p.Phe129=) c.291C>T (p.Phe97=) n.523C>T | |
| 16 | g.173559del | CA2630737981 | HBA2 | c.388del (p.Leu130TrpfsTer4) c.292del (p.Leu98TrpfsTer4) n.524del | gnomAD v4 |
| 16 | g.173559C>A | CA393994605 | HBA2 | c.388C>A (p.Leu130Met) c.292C>A (p.Leu98Met) n.524C>A | |
| 16 | g.173559C>G | CA393994607 | HBA2 | c.388C>G (p.Leu130Val) c.292C>G (p.Leu98Val) n.524C>G | |
| 16 | g.173559C>T | CA492785474 | HBA2 | c.388C>T (p.Leu130=) c.292C>T (p.Leu98=) n.524C>T | |
| 16 | g.173560T>A | CA393994609 | HBA2 | c.389T>A (p.Leu130Gln) c.293T>A (p.Leu98Gln) n.525T>A | |
| 16 | g.173560T>C | CA276415466 | HBA2 | c.389T>C (p.Leu130Pro) c.293T>C (p.Leu98Pro) n.525T>C | ClinVar dbSNP |
| 16 | g.173560T>G | CA393994610 | HBA2 | c.389T>G (p.Leu130Arg) c.293T>G (p.Leu98Arg) n.525T>G | |
| 16 | g.173560T= | CA2200880955 | HBA2 | c.389T= (p.Leu130=) c.293T= (p.Leu98=) n.525T= | |
| 16 | g.173561G>A | CA492785480 | HBA2 | c.390G>A (p.Leu130=) c.294G>A (p.Leu98=) n.526G>A | gnomAD v4 |
| 16 | g.173561G>C | CA492785481 | HBA2 | c.390G>C (p.Leu130=) c.294G>C (p.Leu98=) n.526G>C | |
| 16 | g.173561G>T | CA492785484 | HBA2 | c.390G>T (p.Leu130=) c.294G>T (p.Leu98=) n.526G>T | |
| 16 | g.173562G>A | CA393994611 | HBA2 | c.391G>A (p.Ala131Thr) c.295G>A (p.Ala99Thr) n.527G>A | COSMIC |
| 16 | g.173562G>C | CA125576 | HBA2 | c.391G>C (p.Ala131Pro) c.295G>C (p.Ala99Pro) n.527G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173562G= | CA2200880956 | HBA2 | c.391G= (p.Ala131=) c.295G= (p.Ala99=) n.527G= | |
| 16 | g.173562G>T | CA393994614 | HBA2 | c.391G>T (p.Ala131Ser) c.295G>T (p.Ala99Ser) n.527G>T | |
| 16 | g.173563C>A | CA276415481 | HBA2 | c.392C>A (p.Ala131Asp) c.296C>A (p.Ala99Asp) n.528C>A | dbSNP |
| 16 | g.173563C= | CA2200880957 | HBA2 | c.392C= (p.Ala131=) c.296C= (p.Ala99=) n.528C= |