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 |
|---|---|---|---|---|---|
| 13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
| 13 | g.32339776_32340004delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | CA2082823130 | BRCA2 | c.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1807=) c.5052_5280delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1684=) n.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | |
| 13 | g.32339783_32340010del | CA1139663219 | BRCA2 | c.5428_5655del (p.Val1810_Cys1885del) c.5059_5286del (p.Val1687_Cys1762del) n.5428_5655del | ClinVar dbSNP |
| 13 | g.32339876C>A | CA387785877 | BRCA2 | c.5521C>A (p.Pro1841Thr) c.5152C>A (p.Pro1718Thr) n.5521C>A | dbSNP |
| 13 | g.32339876C>G | CA387785879 | BRCA2 | c.5521C>G (p.Pro1841Ala) c.5152C>G (p.Pro1718Ala) n.5521C>G | dbSNP |
| 13 | g.32339876C>T | CA387785881 | BRCA2 | c.5521C>T (p.Pro1841Ser) c.5152C>T (p.Pro1718Ser) n.5521C>T | dbSNP |
| 13 | g.32339877C>A | CA387785883 | BRCA2 | c.5522C>A (p.Pro1841Gln) c.5153C>A (p.Pro1718Gln) n.5522C>A | dbSNP |
| 13 | g.32339877C>G | CA387785885 | BRCA2 | c.5522C>G (p.Pro1841Arg) c.5153C>G (p.Pro1718Arg) n.5522C>G | dbSNP |
| 13 | g.32339877C>T | CA387785886 | BRCA2 | c.5522C>T (p.Pro1841Leu) c.5153C>T (p.Pro1718Leu) n.5522C>T | dbSNP |
| 13 | g.32339878A>C | CA483438522 | BRCA2 | c.5523A>C (p.Pro1841=) c.5154A>C (p.Pro1718=) n.5523A>C | dbSNP |
| 13 | g.32339878A>G | CA483438523 | BRCA2 | c.5523A>G (p.Pro1841=) c.5154A>G (p.Pro1718=) n.5523A>G | ClinVar dbSNP |
| 13 | g.32339878A>T | CA483438524 | BRCA2 | c.5523A>T (p.Pro1841=) c.5154A>T (p.Pro1718=) n.5523A>T | dbSNP |
| 13 | g.32339878dup | CA2573149365 | BRCA2 | c.5523dup (p.Pro1842ThrfsTer4) c.5154dup (p.Pro1719ThrfsTer4) n.5523dup | ClinVar dbSNP |
| 13 | g.32339878_32339879delinsAC | CA2082824144 | BRCA2 | c.5523_5524delinsAC (p.Pro1841=) c.5154_5155delinsAC (p.Pro1718=) n.5523_5524delinsAC | |
| 13 | g.32339879C>A | CA387785889 | BRCA2 | c.5524C>A (p.Pro1842Thr) c.5155C>A (p.Pro1719Thr) n.5524C>A | ClinVar dbSNP |
| 13 | g.32339879C= | CA2082824156 | BRCA2 | c.5524C= (p.Pro1842=) c.5155C= (p.Pro1719=) n.5524C= | |
| 13 | g.32339879C>G | CA387785890 | BRCA2 | c.5524C>G (p.Pro1842Ala) c.5155C>G (p.Pro1719Ala) n.5524C>G | ClinVar dbSNP |
| 13 | g.32339879C>T | CA387785892 | BRCA2 | c.5524C>T (p.Pro1842Ser) c.5155C>T (p.Pro1719Ser) n.5524C>T | ClinVar dbSNP |
| 13 | g.32339880del | CA891844237 | BRCA2 | c.5525del (p.Pro1842LeufsTer5) c.5156del (p.Pro1719LeufsTer5) n.5525del | ClinVar dbSNP |
| 13 | g.32339880C>A | CA387785898 | BRCA2 | c.5525C>A (p.Pro1842His) c.5156C>A (p.Pro1719His) n.5525C>A | dbSNP |
| 13 | g.32339880C= | CA2082824178 | BRCA2 | c.5525C= (p.Pro1842=) c.5156C= (p.Pro1719=) n.5525C= | |
| 13 | g.32339880C>G | CA387785896 | BRCA2 | c.5525C>G (p.Pro1842Arg) c.5156C>G (p.Pro1719Arg) n.5525C>G | dbSNP |
| 13 | g.32339880C>T | CA387785894 | BRCA2 | c.5525C>T (p.Pro1842Leu) c.5156C>T (p.Pro1719Leu) n.5525C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339880_32339881delinsCT | CA2082824166 | BRCA2 | c.5525_5526delinsCT (p.Pro1842=) c.5156_5157delinsCT (p.Pro1719=) n.5525_5526delinsCT | |
| 13 | g.32339881del | CA022497 | BRCA2 | c.5526del (p.Ala1843HisfsTer4) c.5157del (p.Ala1720HisfsTer4) n.5526del | ClinVar dbSNP |
| 13 | g.32339881T>A | CA483438527 | BRCA2 | c.5526T>A (p.Pro1842=) c.5157T>A (p.Pro1719=) n.5526T>A | ClinVar dbSNP |
| 13 | g.32339881T>C | CA483438526 | BRCA2 | c.5526T>C (p.Pro1842=) c.5157T>C (p.Pro1719=) n.5526T>C | ClinVar dbSNP |
| 13 | g.32339881T>G | CA483438525 | BRCA2 | c.5526T>G (p.Pro1842=) c.5157T>G (p.Pro1719=) n.5526T>G | dbSNP |
| 13 | g.32339881T= | CA2082824190 | BRCA2 | c.5526T= (p.Pro1842=) c.5157T= (p.Pro1719=) n.5526T= | |
| 13 | g.32339882G>A | CA337669 | BRCA2 | c.5527G>A (p.Ala1843Thr) c.5158G>A (p.Ala1720Thr) n.5527G>A | ClinVar dbSNP |
| 13 | g.32339882G>C | CA387785901 | BRCA2 | c.5527G>C (p.Ala1843Pro) c.5158G>C (p.Ala1720Pro) n.5527G>C | ClinVar dbSNP |
| 13 | g.32339882G= | CA2082824217 | BRCA2 | c.5527G= (p.Ala1843=) c.5158G= (p.Ala1720=) n.5527G= | |
| 13 | g.32339882G>T | CA387785902 | BRCA2 | c.5527G>T (p.Ala1843Ser) c.5158G>T (p.Ala1720Ser) n.5527G>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339883C>A | CA387785905 | BRCA2 | c.5528C>A (p.Ala1843Glu) c.5159C>A (p.Ala1720Glu) n.5528C>A | |
| 13 | g.32339883C>G | CA387785906 | BRCA2 | c.5528C>G (p.Ala1843Gly) c.5159C>G (p.Ala1720Gly) n.5528C>G | dbSNP |
| 13 | g.32339883C>T | CA387785908 | BRCA2 | c.5528C>T (p.Ala1843Val) c.5159C>T (p.Ala1720Val) n.5528C>T | dbSNP |
| 13 | g.32339884A= | CA2082824230 | BRCA2 | c.5529A= (p.Ala1843=) c.5160A= (p.Ala1720=) n.5529A= | |
| 13 | g.32339884A>C | CA6940882 | BRCA2 | c.5529A>C (p.Ala1843=) c.5160A>C (p.Ala1720=) n.5529A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339884A>G | CA483438528 | BRCA2 | c.5529A>G (p.Ala1843=) c.5160A>G (p.Ala1720=) n.5529A>G | ClinVar |
| 13 | g.32339884A>T | CA6940883 | BRCA2 | c.5529A>T (p.Ala1843=) c.5160A>T (p.Ala1720=) n.5529A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339885T>A | CA387785912 | BRCA2 | c.5530T>A (p.Phe1844Ile) c.5161T>A (p.Phe1721Ile) n.5530T>A | ClinVar dbSNP |
| 13 | g.32339885T>C | CA387785913 | BRCA2 | c.5530T>C (p.Phe1844Leu) c.5161T>C (p.Phe1721Leu) n.5530T>C | ClinVar dbSNP |
| 13 | g.32339885T>G | CA387785915 | BRCA2 | c.5530T>G (p.Phe1844Val) c.5161T>G (p.Phe1721Val) n.5530T>G | ClinVar |
| 13 | g.32339885T= | CA2082824245 | BRCA2 | c.5530T= (p.Phe1844=) c.5161T= (p.Phe1721=) n.5530T= | |
| 13 | g.32339887del | CA2580087603 | BRCA2 | c.5532del (p.Phe1844LeufsTer3) c.5163del (p.Phe1721LeufsTer3) n.5532del | ClinVar |
| 13 | g.32339886_32339887del | CA2499222199 | BRCA2 | c.5531_5532del (p.Phe1844Ter) c.5162_5163del (p.Phe1721Ter) n.5531_5532del | |
| 13 | g.32339886T>A | CA387785918 | BRCA2 | c.5531T>A (p.Phe1844Tyr) c.5162T>A (p.Phe1721Tyr) n.5531T>A | ClinVar dbSNP |
| 13 | g.32339886T>C | CA387785917 | BRCA2 | c.5531T>C (p.Phe1844Ser) c.5162T>C (p.Phe1721Ser) n.5531T>C | |
| 13 | g.32339886T>G | CA387785916 | BRCA2 | c.5531T>G (p.Phe1844Cys) c.5162T>G (p.Phe1721Cys) n.5531T>G | |
| 13 | g.32339887T>A | CA387785919 | BRCA2 | c.5532T>A (p.Phe1844Leu) c.5163T>A (p.Phe1721Leu) n.5532T>A | dbSNP |