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.32339831_32339834dup | CA2695217891 | BRCA2 | c.5476_5479dup (p.Ile1827SerfsTer3) c.5107_5110dup (p.Ile1704SerfsTer3) n.5476_5479dup | |
| 13 | g.32339831G>A | CA387785697 | BRCA2 | c.5476G>A (p.Ala1826Thr) c.5107G>A (p.Ala1703Thr) n.5476G>A | ClinVar dbSNP |
| 13 | g.32339831G>C | CA387785698 | BRCA2 | c.5476G>C (p.Ala1826Pro) c.5107G>C (p.Ala1703Pro) n.5476G>C | ClinVar dbSNP |
| 13 | g.32339831G= | CA2082823729 | BRCA2 | c.5476G= (p.Ala1826=) c.5107G= (p.Ala1703=) n.5476G= | |
| 13 | g.32339831G>T | CA387785700 | BRCA2 | c.5476G>T (p.Ala1826Ser) c.5107G>T (p.Ala1703Ser) n.5476G>T | dbSNP |
| 13 | g.32339832C>A | CA387785702 | BRCA2 | c.5477C>A (p.Ala1826Asp) c.5108C>A (p.Ala1703Asp) n.5477C>A | dbSNP |
| 13 | g.32339832C>G | CA387785703 | BRCA2 | c.5477C>G (p.Ala1826Gly) c.5108C>G (p.Ala1703Gly) n.5477C>G | dbSNP |
| 13 | g.32339832C>T | CA387785705 | BRCA2 | c.5477C>T (p.Ala1826Val) c.5108C>T (p.Ala1703Val) n.5477C>T | ClinVar dbSNP |
| 13 | g.32339833C>A | CA483438469 | BRCA2 | c.5478C>A (p.Ala1826=) c.5109C>A (p.Ala1703=) n.5478C>A | dbSNP |
| 13 | g.32339833C>G | CA483438470 | BRCA2 | c.5478C>G (p.Ala1826=) c.5109C>G (p.Ala1703=) n.5478C>G | dbSNP |
| 13 | g.32339833C>T | CA483438471 | BRCA2 | c.5478C>T (p.Ala1826=) c.5109C>T (p.Ala1703=) n.5478C>T | dbSNP |
| 13 | g.32339833_32339837delinsCATTA | CA2082823738 | BRCA2 | c.5478_5482delinsCATTA (p.Ala1826=) c.5109_5113delinsCATTA (p.Ala1703=) n.5478_5482delinsCATTA | |
| 13 | g.32339833_32339838delinsCATTAA | CA2082823737 | BRCA2 | c.5478_5483delinsCATTAA (p.Ala1826=) c.5109_5114delinsCATTAA (p.Ala1703=) n.5478_5483delinsCATTAA | |
| 13 | g.32339834del | CA2499222198 | BRCA2 | c.5479del (p.Ile1827LeufsTer13) c.5110del (p.Ile1704LeufsTer13) n.5479del | dbSNP |
| 13 | g.32339834A= | CA2082823753 | BRCA2 | c.5479A= (p.Ile1827=) c.5110A= (p.Ile1704=) n.5479A= | |
| 13 | g.32339834A>C | CA387785708 | BRCA2 | c.5479A>C (p.Ile1827Leu) c.5110A>C (p.Ile1704Leu) n.5479A>C | |
| 13 | g.32339834A>G | CA022413 | BRCA2 | c.5479A>G (p.Ile1827Val) c.5110A>G (p.Ile1704Val) n.5479A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339834A>T | CA387785710 | BRCA2 | c.5479A>T (p.Ile1827Phe) c.5110A>T (p.Ile1704Phe) n.5479A>T | dbSNP |
| 13 | g.32339834_32339835delinsAT | CA2082823755 | BRCA2 | c.5479_5480delinsAT (p.Ile1827=) c.5110_5111delinsAT (p.Ile1704=) n.5479_5480delinsAT | |
| 13 | g.32339834_32339837delinsTTT | CA1139663221 | BRCA2 | c.5479_5482delinsTTT (p.Ile1827PhefsTer13) c.5110_5113delinsTTT (p.Ile1704PhefsTer13) n.5479_5482delinsTTT | ClinVar dbSNP |
| 13 | g.32339837_32339841del | CA022418 | BRCA2 | c.5482_5486del (p.Lys1828ValfsTer4) c.5113_5117del (p.Lys1705ValfsTer4) n.5482_5486del | ClinVar dbSNP |
| 13 | g.32339835T>A | CA387785716 | BRCA2 | c.5480T>A (p.Ile1827Asn) c.5111T>A (p.Ile1704Asn) n.5480T>A | dbSNP |
| 13 | g.32339835T>C | CA387785715 | BRCA2 | c.5480T>C (p.Ile1827Thr) c.5111T>C (p.Ile1704Thr) n.5480T>C | dbSNP |
| 13 | g.32339835T>G | CA387785713 | BRCA2 | c.5480T>G (p.Ile1827Ser) c.5111T>G (p.Ile1704Ser) n.5480T>G | dbSNP |
| 13 | g.32339836del | CA919242528 | BRCA2 | c.5481del (p.Lys1828AsnfsTer12) c.5112del (p.Lys1705AsnfsTer12) n.5481del | dbSNP |
| 13 | g.32339836T>A | CA483438477 | BRCA2 | c.5481T>A (p.Ile1827=) c.5112T>A (p.Ile1704=) n.5481T>A | |
| 13 | g.32339836T>C | CA483438481 | BRCA2 | c.5481T>C (p.Ile1827=) c.5112T>C (p.Ile1704=) n.5481T>C | dbSNP |
| 13 | g.32339836T>G | CA387785718 | BRCA2 | c.5481T>G (p.Ile1827Met) c.5112T>G (p.Ile1704Met) n.5481T>G | |
| 13 | g.32339836T= | CA2082823765 | BRCA2 | c.5481T= (p.Ile1827=) c.5112T= (p.Ile1704=) n.5481T= | |
| 13 | g.32339837A>C | CA387785720 | BRCA2 | c.5482A>C (p.Lys1828Gln) c.5113A>C (p.Lys1705Gln) n.5482A>C | dbSNP |
| 13 | g.32339837A>G | CA387785722 | BRCA2 | c.5482A>G (p.Lys1828Glu) c.5113A>G (p.Lys1705Glu) n.5482A>G | ClinVar dbSNP |
| 13 | g.32339837A>T | CA387785724 | BRCA2 | c.5482A>T (p.Lys1828Ter) c.5113A>T (p.Lys1705Ter) n.5482A>T | dbSNP |
| 13 | g.32339838A= | CA2082823770 | BRCA2 | c.5483A= (p.Lys1828=) c.5114A= (p.Lys1705=) n.5483A= | |
| 13 | g.32339838A>C | CA387785726 | BRCA2 | c.5483A>C (p.Lys1828Thr) c.5114A>C (p.Lys1705Thr) n.5483A>C | dbSNP |
| 13 | g.32339838A>G | CA10586074 | BRCA2 | c.5483A>G (p.Lys1828Arg) c.5114A>G (p.Lys1705Arg) n.5483A>G | ClinVar dbSNP |
| 13 | g.32339838A>T | CA387785729 | BRCA2 | c.5483A>T (p.Lys1828Ile) c.5114A>T (p.Lys1705Ile) n.5483A>T | ClinVar dbSNP |
| 13 | g.32339839A= | CA2082823799 | BRCA2 | c.5484A= (p.Lys1828=) c.5115A= (p.Lys1705=) n.5484A= | |
| 13 | g.32339839A>C | CA387785731 | BRCA2 | c.5484A>C (p.Lys1828Asn) c.5115A>C (p.Lys1705Asn) n.5484A>C | dbSNP |
| 13 | g.32339839A>G | CA483438483 | BRCA2 | c.5484A>G (p.Lys1828=) c.5115A>G (p.Lys1705=) n.5484A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339839A>T | CA387785733 | BRCA2 | c.5484A>T (p.Lys1828Asn) c.5115A>T (p.Lys1705Asn) n.5484A>T | dbSNP |
| 13 | g.32339839_32339840delinsAT | CA2082823784 | BRCA2 | c.5484_5485delinsAT (p.Lys1828=) c.5115_5116delinsAT (p.Lys1705=) n.5484_5485delinsAT | |
| 13 | g.32339840T>A | CA387785735 | BRCA2 | c.5485T>A (p.Leu1829Met) c.5116T>A (p.Leu1706Met) n.5485T>A | |
| 13 | g.32339840T>C | CA483438484 | BRCA2 | c.5485T>C (p.Leu1829=) c.5116T>C (p.Leu1706=) n.5485T>C | ClinVar dbSNP |
| 13 | g.32339840T>G | CA387785736 | BRCA2 | c.5485T>G (p.Leu1829Val) c.5116T>G (p.Leu1706Val) n.5485T>G | |
| 13 | g.32339841del | CA10586541 | BRCA2 | c.5486del (p.Leu1829CysfsTer11) c.5117del (p.Leu1706CysfsTer11) n.5486del | ClinVar dbSNP |
| 13 | g.32339840_32339842delinsTTG | CA2082823809 | BRCA2 | c.5485_5487delinsTTG (p.Leu1829=) c.5116_5118delinsTTG (p.Leu1706=) n.5485_5487delinsTTG | |
| 13 | g.32339841T>A | CA387785743 | BRCA2 | c.5486T>A (p.Leu1829Ter) c.5117T>A (p.Leu1706Ter) n.5486T>A | ClinVar dbSNP |