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 |
|---|---|---|---|---|---|
| 14 | g.94382739_94382769delinsAGGCTTCTGAGTGGTACAACTTTTTAACATC | CA2155954756 | SERPINA1 | c.469_499delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp157=) c.211_241delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp71=) | |
| 14 | g.94382740_94382769del | CA7327484 | SERPINA1 | c.469_498del (p.Asp157_Ala166del) c.211_240del (p.Asp71_Ala80del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382743T>A | CA390849619 | SERPINA1 | c.495A>T (p.Glu165Asp) c.237A>T (p.Glu79Asp) | |
| 14 | g.94382743T>C | CA487622051 | SERPINA1 | c.495A>G (p.Glu165=) c.237A>G (p.Glu79=) | |
| 14 | g.94382743T>G | CA390849620 | SERPINA1 | c.495A>C (p.Glu165Asp) c.237A>C (p.Glu79Asp) | |
| 14 | g.94382744T>A | CA390849621 | SERPINA1 | c.494A>T (p.Glu165Val) c.236A>T (p.Glu79Val) | |
| 14 | g.94382744T>C | CA390849622 | SERPINA1 | c.494A>G (p.Glu165Gly) c.236A>G (p.Glu79Gly) | gnomAD v4 |
| 14 | g.94382744T>G | CA390849623 | SERPINA1 | c.494A>C (p.Glu165Ala) c.236A>C (p.Glu79Ala) | |
| 14 | g.94382745C>A | CA390849624 | SERPINA1 | c.493G>T (p.Glu165Ter) c.235G>T (p.Glu79Ter) | |
| 14 | g.94382745C>G | CA390849625 | SERPINA1 | c.493G>C (p.Glu165Gln) c.235G>C (p.Glu79Gln) | COSMIC |
| 14 | g.94382745C>T | CA390849626 | SERPINA1 | c.493G>A (p.Glu165Lys) c.235G>A (p.Glu79Lys) | |
| 14 | g.94382746T>A | CA487622052 | SERPINA1 | c.492A>T (p.Ser164=) c.234A>T (p.Ser78=) | |
| 14 | g.94382746T>C | CA487622054 | SERPINA1 | c.492A>G (p.Ser164=) c.234A>G (p.Ser78=) | gnomAD v4 |
| 14 | g.94382746T>G | CA487622053 | SERPINA1 | c.492A>C (p.Ser164=) c.234A>C (p.Ser78=) | |
| 14 | g.94382747G>A | CA390849715 | SERPINA1 | c.491C>T (p.Ser164Leu) c.233C>T (p.Ser78Leu) | gnomAD v4 |
| 14 | g.94382747G>C | CA390849719 | SERPINA1 | c.491C>G (p.Ser164Ter) c.233C>G (p.Ser78Ter) | |
| 14 | g.94382747G>T | CA390849717 | SERPINA1 | c.491C>A (p.Ser164Ter) c.233C>A (p.Ser78Ter) | COSMIC |
| 14 | g.94382748A= | CA2155954758 | SERPINA1 | c.490T= (p.Ser164=) c.232T= (p.Ser78=) | |
| 14 | g.94382748A>C | CA390849720 | SERPINA1 | c.490T>G (p.Ser164Ala) c.232T>G (p.Ser78Ala) | |
| 14 | g.94382748A>G | CA265864120 | SERPINA1 | c.490T>C (p.Ser164Pro) c.232T>C (p.Ser78Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382748A>T | CA390849723 | SERPINA1 | c.490T>A (p.Ser164Thr) c.232T>A (p.Ser78Thr) | |
| 14 | g.94382749G>A | CA487841009 | SERPINA1 | c.489C>T (p.His163=) c.231C>T (p.His77=) | |
| 14 | g.94382749G>C | CA390849725 | SERPINA1 | c.489C>G (p.His163Gln) c.231C>G (p.His77Gln) | |
| 14 | g.94382749G>T | CA390849726 | SERPINA1 | c.489C>A (p.His163Gln) c.231C>A (p.His77Gln) | |
| 14 | g.94382750T>A | CA390849727 | SERPINA1 | c.488A>T (p.His163Leu) c.230A>T (p.His77Leu) | gnomAD v4 |
| 14 | g.94382750T>C | CA390849728 | SERPINA1 | c.488A>G (p.His163Arg) c.230A>G (p.His77Arg) | gnomAD v4 |
| 14 | g.94382750T>G | CA390849730 | SERPINA1 | c.488A>C (p.His163Pro) c.230A>C (p.His77Pro) | |
| 14 | g.94382751G>A | CA390849731 | SERPINA1 | c.487C>T (p.His163Tyr) c.229C>T (p.His77Tyr) | gnomAD v4 |
| 14 | g.94382751G>C | CA390849733 | SERPINA1 | c.487C>G (p.His163Asp) c.229C>G (p.His77Asp) | |
| 14 | g.94382751G>T | CA390849735 | SERPINA1 | c.487C>A (p.His163Asn) c.229C>A (p.His77Asn) | |
| 14 | g.94382752G>A | CA487841010 | SERPINA1 | c.486C>T (p.Tyr162=) c.228C>T (p.Tyr76=) | |
| 14 | g.94382752G>C | CA390849736 | SERPINA1 | c.486C>G (p.Tyr162Ter) c.228C>G (p.Tyr76Ter) | |
| 14 | g.94382752G>T | CA390849738 | SERPINA1 | c.486C>A (p.Tyr162Ter) c.228C>A (p.Tyr76Ter) | |
| 14 | g.94382753T>A | CA390849740 | SERPINA1 | c.485A>T (p.Tyr162Phe) c.227A>T (p.Tyr76Phe) | |
| 14 | g.94382753T>C | CA390849743 | SERPINA1 | c.485A>G (p.Tyr162Cys) c.227A>G (p.Tyr76Cys) | |
| 14 | g.94382753T>G | CA390849741 | SERPINA1 | c.485A>C (p.Tyr162Ser) c.227A>C (p.Tyr76Ser) | |
| 14 | g.94382754A>C | CA390849745 | SERPINA1 | c.484T>G (p.Tyr162Asp) c.226T>G (p.Tyr76Asp) | |
| 14 | g.94382754A>G | CA390849746 | SERPINA1 | c.484T>C (p.Tyr162His) c.226T>C (p.Tyr76His) | |
| 14 | g.94382754A>T | CA390849748 | SERPINA1 | c.484T>A (p.Tyr162Asn) c.226T>A (p.Tyr76Asn) | |
| 14 | g.94382755C>A | CA390849750 | SERPINA1 | c.483G>T (p.Leu161Phe) c.225G>T (p.Leu75Phe) | dbSNP gnomAD v4 |
| 14 | g.94382755C= | CA2155954759 | SERPINA1 | c.483G= (p.Leu161=) c.225G= (p.Leu75=) | |
| 14 | g.94382755C>G | CA390849752 | SERPINA1 | c.483G>C (p.Leu161Phe) c.225G>C (p.Leu75Phe) | gnomAD v4 |
| 14 | g.94382755C>T | CA265864121 | SERPINA1 | c.483G>A (p.Leu161=) c.225G>A (p.Leu75=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382756A>C | CA390849754 | SERPINA1 | c.482T>G (p.Leu161Trp) c.224T>G (p.Leu75Trp) | gnomAD v4 |
| 14 | g.94382756A>G | CA390849755 | SERPINA1 | c.482T>C (p.Leu161Ser) c.224T>C (p.Leu75Ser) | |
| 14 | g.94382756A>T | CA390849757 | SERPINA1 | c.482T>A (p.Leu161Ter) c.224T>A (p.Leu75Ter) | |
| 14 | g.94382757A>C | CA390849758 | SERPINA1 | c.481T>G (p.Leu161Val) c.223T>G (p.Leu75Val) | |
| 14 | g.94382757A>G | CA487841013 | SERPINA1 | c.481T>C (p.Leu161=) c.223T>C (p.Leu75=) | ClinVar gnomAD v4 |
| 14 | g.94382757A>T | CA390849760 | SERPINA1 | c.481T>A (p.Leu161Met) c.223T>A (p.Leu75Met) | |
| 14 | g.94382758del | CA2695199866 | SERPINA1 | c.480del (p.Lys160AsnfsTer?) c.222del (p.Lys74AsnfsTer?) | ClinVar |