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.32339953dup | CA2580087617 | BRCA2 | c.5598dup (p.Thr1867TyrfsTer6) c.5229dup (p.Thr1744TyrfsTer6) n.5598dup | ClinVar |
| 13 | g.32339952T>A | CA387786052 | BRCA2 | c.5597T>A (p.Phe1866Tyr) c.5228T>A (p.Phe1743Tyr) n.5597T>A | dbSNP |
| 13 | g.32339952T>C | CA387786053 | BRCA2 | c.5597T>C (p.Phe1866Ser) c.5228T>C (p.Phe1743Ser) n.5597T>C | |
| 13 | g.32339952T>G | CA387786054 | BRCA2 | c.5597T>G (p.Phe1866Cys) c.5228T>G (p.Phe1743Cys) n.5597T>G | |
| 13 | g.32339953T>A | CA387786056 | BRCA2 | c.5598T>A (p.Phe1866Leu) c.5229T>A (p.Phe1743Leu) n.5598T>A | |
| 13 | g.32339953T>C | CA483438742 | BRCA2 | c.5598T>C (p.Phe1866=) c.5229T>C (p.Phe1743=) n.5598T>C | |
| 13 | g.32339953T>G | CA387786055 | BRCA2 | c.5598T>G (p.Phe1866Leu) c.5229T>G (p.Phe1743Leu) n.5598T>G | |
| 13 | g.32339953_32339957delinsTACAG | CA2082825155 | BRCA2 | c.5598_5602delinsTACAG (p.Phe1866=) c.5229_5233delinsTACAG (p.Phe1743=) n.5598_5602delinsTACAG | |
| 13 | g.32339954A= | CA2082825169 | BRCA2 | c.5599A= (p.Thr1867=) c.5230A= (p.Thr1744=) n.5599A= | |
| 13 | g.32339954A>C | CA387786057 | BRCA2 | c.5599A>C (p.Thr1867Pro) c.5230A>C (p.Thr1744Pro) n.5599A>C | ClinVar dbSNP |
| 13 | g.32339954A>G | CA387786058 | BRCA2 | c.5599A>G (p.Thr1867Ala) c.5230A>G (p.Thr1744Ala) n.5599A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339954A>T | CA387786059 | BRCA2 | c.5599A>T (p.Thr1867Ser) c.5230A>T (p.Thr1744Ser) n.5599A>T | dbSNP |
| 13 | g.32339958_32339961del | CA022689 | BRCA2 | c.5603_5606del (p.Asp1868ValfsTer5) c.5234_5237del (p.Asp1745ValfsTer5) n.5603_5606del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339955C>A | CA387786060 | BRCA2 | c.5600C>A (p.Thr1867Lys) c.5231C>A (p.Thr1744Lys) n.5600C>A | ClinVar dbSNP |
| 13 | g.32339955C= | CA2082825176 | BRCA2 | c.5600C= (p.Thr1867=) c.5231C= (p.Thr1744=) n.5600C= | |
| 13 | g.32339955C>G | CA387786061 | BRCA2 | c.5600C>G (p.Thr1867Arg) c.5231C>G (p.Thr1744Arg) n.5600C>G | dbSNP |
| 13 | g.32339955C>T | CA387786062 | BRCA2 | c.5600C>T (p.Thr1867Ile) c.5231C>T (p.Thr1744Ile) n.5600C>T | dbSNP |
| 13 | g.32339956A>C | CA483438744 | BRCA2 | c.5601A>C (p.Thr1867=) c.5232A>C (p.Thr1744=) n.5601A>C | |
| 13 | g.32339956A>G | CA483438745 | BRCA2 | c.5601A>G (p.Thr1867=) c.5232A>G (p.Thr1744=) n.5601A>G | dbSNP |
| 13 | g.32339956A>T | CA483438746 | BRCA2 | c.5601A>T (p.Thr1867=) c.5232A>T (p.Thr1744=) n.5601A>T | dbSNP |
| 13 | g.32339957G>A | CA387786063 | BRCA2 | c.5602G>A (p.Asp1868Asn) c.5233G>A (p.Asp1745Asn) n.5602G>A | ClinVar dbSNP |
| 13 | g.32339957G>C | CA387786064 | BRCA2 | c.5602G>C (p.Asp1868His) c.5233G>C (p.Asp1745His) n.5602G>C | dbSNP |
| 13 | g.32339957G= | CA2082825182 | BRCA2 | c.5602G= (p.Asp1868=) c.5233G= (p.Asp1745=) n.5602G= | |
| 13 | g.32339957G>T | CA022683 | BRCA2 | c.5602G>T (p.Asp1868Tyr) c.5233G>T (p.Asp1745Tyr) n.5602G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339957_32339959delinsGAC | CA2082825187 | BRCA2 | c.5602_5604delinsGAC (p.Asp1868=) c.5233_5235delinsGAC (p.Asp1745=) n.5602_5604delinsGAC | |
| 13 | g.32339957_32339958insTTTGTGGGTATGCATTTGCATCTTTTACATTGGATATT | CA2547523395 | BRCA2 | c.5602_5603insTTTGTGGGTATGCATTTGCATCTTTTACATTGGATATT (p.Asp1868ValfsTer19) c.5233_5234insTTTGTGGGTATGCATTTGCATCTTTTACATTGGATATT (p.Asp1745ValfsTer19) n.5602_5603insTTTGTGGGTATGCATTTGCATCTTTTACATTGGATATT | |
| 13 | g.32339958A= | CA2082825194 | BRCA2 | c.5603A= (p.Asp1868=) c.5234A= (p.Asp1745=) n.5603A= | |
| 13 | g.32339958A>C | CA387786065 | BRCA2 | c.5603A>C (p.Asp1868Ala) c.5234A>C (p.Asp1745Ala) n.5603A>C | dbSNP |
| 13 | g.32339958A>G | CA387786066 | BRCA2 | c.5603A>G (p.Asp1868Gly) c.5234A>G (p.Asp1745Gly) n.5603A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339958A>T | CA387786067 | BRCA2 | c.5603A>T (p.Asp1868Val) c.5234A>T (p.Asp1745Val) n.5603A>T | dbSNP |
| 13 | g.32339959_32339960del | CA6940889 | BRCA2 | c.5604_5605del (p.Asp1868GlufsTer4) c.5235_5236del (p.Asp1745GlufsTer4) n.5604_5605del | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.32339958_32339964delinsACAGTTT | CA2082825195 | BRCA2 | c.5603_5609delinsACAGTTT (p.Asp1868=) c.5234_5240delinsACAGTTT (p.Asp1745=) n.5603_5609delinsACAGTTT | |
| 13 | g.32339959C>A | CA387786068 | BRCA2 | c.5604C>A (p.Asp1868Glu) c.5235C>A (p.Asp1745Glu) n.5604C>A | dbSNP |
| 13 | g.32339959C= | CA2082825206 | BRCA2 | c.5604C= (p.Asp1868=) c.5235C= (p.Asp1745=) n.5604C= | |
| 13 | g.32339959C>G | CA387786069 | BRCA2 | c.5604C>G (p.Asp1868Glu) c.5235C>G (p.Asp1745Glu) n.5604C>G | dbSNP |
| 13 | g.32339959C>T | CA483438751 | BRCA2 | c.5604C>T (p.Asp1868=) c.5235C>T (p.Asp1745=) n.5604C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339963_32339968del | CA16619728 | BRCA2 | c.5608_5613del (p.Phe1870_Ser1871del) c.5239_5244del (p.Phe1747_Ser1748del) n.5608_5613del | ClinVar dbSNP |
| 13 | g.32339960A= | CA2082825226 | BRCA2 | c.5605A= (p.Ser1869=) c.5236A= (p.Ser1746=) n.5605A= | |
| 13 | g.32339960A>C | CA387786070 | BRCA2 | c.5605A>C (p.Ser1869Arg) c.5236A>C (p.Ser1746Arg) n.5605A>C | ClinVar dbSNP |
| 13 | g.32339960A>G | CA10579657 | BRCA2 | c.5605A>G (p.Ser1869Gly) c.5236A>G (p.Ser1746Gly) n.5605A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339960A>T | CA387786071 | BRCA2 | c.5605A>T (p.Ser1869Cys) c.5236A>T (p.Ser1746Cys) n.5605A>T | dbSNP |
| 13 | g.32339961G>A | CA387786072 | BRCA2 | c.5606G>A (p.Ser1869Asn) c.5237G>A (p.Ser1746Asn) n.5606G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339961G>C | CA387786074 | BRCA2 | c.5606G>C (p.Ser1869Thr) c.5237G>C (p.Ser1746Thr) n.5606G>C | dbSNP |
| 13 | g.32339961G= | CA2082825240 | BRCA2 | c.5606G= (p.Ser1869=) c.5237G= (p.Ser1746=) n.5606G= | |
| 13 | g.32339961G>T | CA387786073 | BRCA2 | c.5606G>T (p.Ser1869Ile) c.5237G>T (p.Ser1746Ile) n.5606G>T | |
| 13 | g.32339961_32339962insC | CA658823657 | BRCA2 | c.5606_5607insC (p.Ser1871GlnfsTer2) c.5237_5238insC (p.Ser1748GlnfsTer2) n.5606_5607insC | ClinVar dbSNP |
| 13 | g.32339962T>A | CA387786075 | BRCA2 | c.5607T>A (p.Ser1869Arg) c.5238T>A (p.Ser1746Arg) n.5607T>A | ClinVar dbSNP |