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.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
| 13 | g.32340172_32340178delinsGGAGAAA | CA2082827877 | BRCA2 | c.5817_5823delinsGGAGAAA (p.Leu1939=) c.5448_5454delinsGGAGAAA (p.Leu1816=) n.5817_5823delinsGGAGAAA | |
| 13 | g.32340174_32340179del | CA919242571 | BRCA2 | c.5819_5824del (p.Glu1940_Lys1941del) c.5450_5455del (p.Glu1817_Lys1818del) n.5819_5824del | dbSNP gnomAD v4 |
| 13 | g.32340173_32340187delinsGAGAAAGTTTCTAAA | CA2082827888 | BRCA2 | c.5818_5832delinsGAGAAAGTTTCTAAA (p.Glu1940=) c.5449_5463delinsGAGAAAGTTTCTAAA (p.Glu1817=) n.5818_5832delinsGAGAAAGTTTCTAAA | |
| 13 | g.32340175_32340188del | CA023268 | BRCA2 | c.5820_5833del (p.Glu1940AspfsTer5) c.5451_5464del (p.Glu1817AspfsTer5) n.5820_5833del | ClinVar dbSNP |
| 13 | g.32340175G>A | CA483438980 | BRCA2 | c.5820G>A (p.Glu1940=) c.5451G>A (p.Glu1817=) n.5820G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340175G>C | CA387787283 | BRCA2 | c.5820G>C (p.Glu1940Asp) c.5451G>C (p.Glu1817Asp) n.5820G>C | dbSNP |
| 13 | g.32340175G= | CA2082827908 | BRCA2 | c.5820G= (p.Glu1940=) c.5451G= (p.Glu1817=) n.5820G= | |
| 13 | g.32340175G>T | CA387787284 | BRCA2 | c.5820G>T (p.Glu1940Asp) c.5451G>T (p.Glu1817Asp) n.5820G>T | dbSNP |
| 13 | g.32340175_32340176delinsGA | CA2082827907 | BRCA2 | c.5820_5821delinsGA (p.Glu1940=) c.5451_5452delinsGA (p.Glu1817=) n.5820_5821delinsGA | |
| 13 | g.32340176A= | CA2082827926 | BRCA2 | c.5821A= (p.Lys1941=) c.5452A= (p.Lys1818=) n.5821A= | |
| 13 | g.32340176A>C | CA387787290 | BRCA2 | c.5821A>C (p.Lys1941Gln) c.5452A>C (p.Lys1818Gln) n.5821A>C | ClinVar dbSNP |
| 13 | g.32340176A>G | CA387787288 | BRCA2 | c.5821A>G (p.Lys1941Glu) c.5452A>G (p.Lys1818Glu) n.5821A>G | ClinVar dbSNP |
| 13 | g.32340176A>T | CA387787287 | BRCA2 | c.5821A>T (p.Lys1941Ter) c.5452A>T (p.Lys1818Ter) n.5821A>T | dbSNP |
| 13 | g.32340178del | CA023272 | BRCA2 | c.5823del (p.Val1942PhefsTer21) c.5454del (p.Val1819PhefsTer21) n.5823del | ClinVar dbSNP |
| 13 | g.32340177_32340178del | CA2580087781 | BRCA2 | c.5822_5823del (p.Lys1941SerfsTer3) c.5453_5454del (p.Lys1818SerfsTer3) n.5822_5823del | ClinVar |
| 13 | g.32340177A>C | CA387787291 | BRCA2 | c.5822A>C (p.Lys1941Thr) c.5453A>C (p.Lys1818Thr) n.5822A>C | |
| 13 | g.32340177A>G | CA387787292 | BRCA2 | c.5822A>G (p.Lys1941Arg) c.5453A>G (p.Lys1818Arg) n.5822A>G | |
| 13 | g.32340177A>T | CA387787294 | BRCA2 | c.5822A>T (p.Lys1941Ile) c.5453A>T (p.Lys1818Ile) n.5822A>T | dbSNP |
| 13 | g.32340178A>C | CA387787295 | BRCA2 | c.5823A>C (p.Lys1941Asn) c.5454A>C (p.Lys1818Asn) n.5823A>C | |
| 13 | g.32340178A>G | CA483438982 | BRCA2 | c.5823A>G (p.Lys1941=) c.5454A>G (p.Lys1818=) n.5823A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340178A>T | CA387787297 | BRCA2 | c.5823A>T (p.Lys1941Asn) c.5454A>T (p.Lys1818Asn) n.5823A>T | dbSNP |
| 13 | g.32340179del | CA2697551802 | BRCA2 | c.5824del (p.Val1942PhefsTer21) c.5455del (p.Val1819PhefsTer21) n.5824del | ClinVar |
| 13 | g.32340179G>A | CA387787299 | BRCA2 | c.5824G>A (p.Val1942Ile) c.5455G>A (p.Val1819Ile) n.5824G>A | dbSNP |
| 13 | g.32340179G>C | CA387787300 | BRCA2 | c.5824G>C (p.Val1942Leu) c.5455G>C (p.Val1819Leu) n.5824G>C | ClinVar dbSNP |
| 13 | g.32340179G>T | CA387787301 | BRCA2 | c.5824G>T (p.Val1942Phe) c.5455G>T (p.Val1819Phe) n.5824G>T | dbSNP |
| 13 | g.32340179_32340181delinsGTT | CA2082827951 | BRCA2 | c.5824_5826delinsGTT (p.Val1942=) c.5455_5457delinsGTT (p.Val1819=) n.5824_5826delinsGTT | |
| 13 | g.32340180T>A | CA387787303 | BRCA2 | c.5825T>A (p.Val1942Asp) c.5456T>A (p.Val1819Asp) n.5825T>A | dbSNP |
| 13 | g.32340180T>C | CA387787305 | BRCA2 | c.5825T>C (p.Val1942Ala) c.5456T>C (p.Val1819Ala) n.5825T>C | ClinVar |
| 13 | g.32340180T>G | CA387787306 | BRCA2 | c.5825T>G (p.Val1942Gly) c.5456T>G (p.Val1819Gly) n.5825T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340180T= | CA2082827958 | BRCA2 | c.5825T= (p.Val1942=) c.5456T= (p.Val1819=) n.5825T= | |
| 13 | g.32340182del | CA2580610728 | BRCA2 | c.5827del (p.Ser1943LeufsTer20) c.5458del (p.Ser1820LeufsTer20) n.5827del | |
| 13 | g.32340181_32340182del | CA658798122 | BRCA2 | c.5826_5827del (p.Ser1943Ter) c.5457_5458del (p.Ser1820Ter) n.5826_5827del | ClinVar dbSNP |
| 13 | g.32340181T>A | CA483438984 | BRCA2 | c.5826T>A (p.Val1942=) c.5457T>A (p.Val1819=) n.5826T>A | dbSNP |
| 13 | g.32340181T>C | CA483438985 | BRCA2 | c.5826T>C (p.Val1942=) c.5457T>C (p.Val1819=) n.5826T>C | dbSNP |
| 13 | g.32340181T>G | CA483438986 | BRCA2 | c.5826T>G (p.Val1942=) c.5457T>G (p.Val1819=) n.5826T>G | |
| 13 | g.32340182T>A | CA387787311 | BRCA2 | c.5827T>A (p.Ser1943Thr) c.5458T>A (p.Ser1820Thr) n.5827T>A | dbSNP |
| 13 | g.32340182T>C | CA387787309 | BRCA2 | c.5827T>C (p.Ser1943Pro) c.5458T>C (p.Ser1820Pro) n.5827T>C | dbSNP |
| 13 | g.32340182T>G | CA387787307 | BRCA2 | c.5827T>G (p.Ser1943Ala) c.5458T>G (p.Ser1820Ala) n.5827T>G | |
| 13 | g.32340182_32340183delinsTC | CA2082827972 | BRCA2 | c.5827_5828delinsTC (p.Ser1943=) c.5458_5459delinsTC (p.Ser1820=) n.5827_5828delinsTC | |
| 13 | g.32340183del | CA023274 | BRCA2 | c.5828del (p.Ser1943LeufsTer20) c.5459del (p.Ser1820LeufsTer20) n.5828del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340183C>A | CA387787316 | BRCA2 | c.5828C>A (p.Ser1943Tyr) c.5459C>A (p.Ser1820Tyr) n.5828C>A | ClinVar dbSNP |
| 13 | g.32340183C>G | CA387787313 | BRCA2 | c.5828C>G (p.Ser1943Cys) c.5459C>G (p.Ser1820Cys) n.5828C>G | dbSNP |
| 13 | g.32340183C>T | CA387787314 | BRCA2 | c.5828C>T (p.Ser1943Phe) c.5459C>T (p.Ser1820Phe) n.5828C>T | dbSNP |
| 13 | g.32340183_32340185delinsCTA | CA2082827984 | BRCA2 | c.5828_5830delinsCTA (p.Ser1943=) c.5459_5461delinsCTA (p.Ser1820=) n.5828_5830delinsCTA | |
| 13 | g.32340184del | CA387787318 | BRCA2 | c.5829del (p.Ile1945TyrfsTer18) c.5460del (p.Ile1822TyrfsTer18) n.5829del | |
| 13 | g.32340184T>A | CA483438989 | BRCA2 | c.5829T>A (p.Ser1943=) c.5460T>A (p.Ser1820=) n.5829T>A | ClinVar dbSNP |
| 13 | g.32340184T>C | CA483438987 | BRCA2 | c.5829T>C (p.Ser1943=) c.5460T>C (p.Ser1820=) n.5829T>C | ClinVar |
| 13 | g.32340184T>G | CA483438988 | BRCA2 | c.5829T>G (p.Ser1943=) c.5460T>G (p.Ser1820=) n.5829T>G | ClinVar |