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.32339668_32339674del | CA2695217889 | BRCA2 | c.5313_5319del (p.Ile1772GlnfsTer3) c.4944_4950del (p.Ile1649GlnfsTer3) n.5313_5319del | |
| 13 | g.32339671_32339695delinsTGAGCCAGTATTGAAGAATGTTGAA | CA2082821885 | BRCA2 | c.5316_5340delinsTGAGCCAGTATTGAAGAATGTTGAA (p.Ile1772=) c.4947_4971delinsTGAGCCAGTATTGAAGAATGTTGAA (p.Ile1649=) n.5316_5340delinsTGAGCCAGTATTGAAGAATGTTGAA | |
| 13 | g.32339674_32339697del | CA915948489 | BRCA2 | c.5319_5342del (p.Glu1773_Glu1780del) c.4950_4973del (p.Glu1650_Glu1657del) n.5319_5342del | ClinVar dbSNP |
| 13 | g.32339674G>A | CA022009 | BRCA2 | c.5319G>A (p.Glu1773=) c.4950G>A (p.Glu1650=) n.5319G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339674G>C | CA387784890 | BRCA2 | c.5319G>C (p.Glu1773Asp) c.4950G>C (p.Glu1650Asp) n.5319G>C | |
| 13 | g.32339674G= | CA2082821917 | BRCA2 | c.5319G= (p.Glu1773=) c.4950G= (p.Glu1650=) n.5319G= | |
| 13 | g.32339674G>T | CA387784891 | BRCA2 | c.5319G>T (p.Glu1773Asp) c.4950G>T (p.Glu1650Asp) n.5319G>T | |
| 13 | g.32339675C>A | CA387784893 | BRCA2 | c.5320C>A (p.Pro1774Thr) c.4951C>A (p.Pro1651Thr) n.5320C>A | dbSNP |
| 13 | g.32339675C>G | CA387784895 | BRCA2 | c.5320C>G (p.Pro1774Ala) c.4951C>G (p.Pro1651Ala) n.5320C>G | dbSNP |
| 13 | g.32339675C>T | CA387784897 | BRCA2 | c.5320C>T (p.Pro1774Ser) c.4951C>T (p.Pro1651Ser) n.5320C>T | ClinVar dbSNP |
| 13 | g.32339676C>A | CA387784898 | BRCA2 | c.5321C>A (p.Pro1774Gln) c.4952C>A (p.Pro1651Gln) n.5321C>A | dbSNP |
| 13 | g.32339676C= | CA2082821923 | BRCA2 | c.5321C= (p.Pro1774=) c.4952C= (p.Pro1651=) n.5321C= | |
| 13 | g.32339676C>G | CA387784900 | BRCA2 | c.5321C>G (p.Pro1774Arg) c.4952C>G (p.Pro1651Arg) n.5321C>G | dbSNP |
| 13 | g.32339676C>T | CA022016 | BRCA2 | c.5321C>T (p.Pro1774Leu) c.4952C>T (p.Pro1651Leu) n.5321C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339677del | CA2622600589 | BRCA2 | c.5322del (p.Val1775TyrfsTer2) c.4953del (p.Val1652TyrfsTer2) n.5322del | gnomAD v4 |
| 13 | g.32339677A= | CA2082821932 | BRCA2 | c.5322A= (p.Pro1774=) c.4953A= (p.Pro1651=) n.5322A= | |
| 13 | g.32339677A>C | CA483438606 | BRCA2 | c.5322A>C (p.Pro1774=) c.4953A>C (p.Pro1651=) n.5322A>C | |
| 13 | g.32339677A>G | CA483438607 | BRCA2 | c.5322A>G (p.Pro1774=) c.4953A>G (p.Pro1651=) n.5322A>G | ClinVar dbSNP |
| 13 | g.32339677A>T | CA483438608 | BRCA2 | c.5322A>T (p.Pro1774=) c.4953A>T (p.Pro1651=) n.5322A>T | dbSNP |
| 13 | g.32339678G>A | CA387784905 | BRCA2 | c.5323G>A (p.Val1775Ile) c.4954G>A (p.Val1652Ile) n.5323G>A | dbSNP |
| 13 | g.32339678G>C | CA387784904 | BRCA2 | c.5323G>C (p.Val1775Leu) c.4954G>C (p.Val1652Leu) n.5323G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339678G= | CA2082821942 | BRCA2 | c.5323G= (p.Val1775=) c.4954G= (p.Val1652=) n.5323G= | |
| 13 | g.32339678G>T | CA387784902 | BRCA2 | c.5323G>T (p.Val1775Leu) c.4954G>T (p.Val1652Leu) n.5323G>T | dbSNP |
| 13 | g.32339679T>A | CA387784907 | BRCA2 | c.5324T>A (p.Val1775Glu) c.4955T>A (p.Val1652Glu) n.5324T>A | dbSNP |
| 13 | g.32339679T>C | CA387784908 | BRCA2 | c.5324T>C (p.Val1775Ala) c.4955T>C (p.Val1652Ala) n.5324T>C | ClinVar dbSNP |
| 13 | g.32339679T>G | CA387784910 | BRCA2 | c.5324T>G (p.Val1775Gly) c.4955T>G (p.Val1652Gly) n.5324T>G | |
| 13 | g.32339679T= | CA2082821950 | BRCA2 | c.5324T= (p.Val1775=) c.4955T= (p.Val1652=) n.5324T= | |
| 13 | g.32339680_32339689del | CA2573149349 | BRCA2 | c.5325_5334del (p.Asn1778IlefsTer10) c.4956_4965del (p.Asn1655IlefsTer10) n.5325_5334del | ClinVar dbSNP |
| 13 | g.32339680A= | CA2082821951 | BRCA2 | c.5325A= (p.Val1775=) c.4956A= (p.Val1652=) n.5325A= | |
| 13 | g.32339680A>C | CA483438609 | BRCA2 | c.5325A>C (p.Val1775=) c.4956A>C (p.Val1652=) n.5325A>C | dbSNP |
| 13 | g.32339680A>G | CA6940866 | BRCA2 | c.5325A>G (p.Val1775=) c.4956A>G (p.Val1652=) n.5325A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339680A>T | CA483438611 | BRCA2 | c.5325A>T (p.Val1775=) c.4956A>T (p.Val1652=) n.5325A>T | dbSNP |
| 13 | g.32339681T>A | CA387784912 | BRCA2 | c.5326T>A (p.Leu1776Met) c.4957T>A (p.Leu1653Met) n.5326T>A | dbSNP |
| 13 | g.32339681T>C | CA483438612 | BRCA2 | c.5326T>C (p.Leu1776=) c.4957T>C (p.Leu1653=) n.5326T>C | dbSNP |
| 13 | g.32339681T>G | CA387784913 | BRCA2 | c.5326T>G (p.Leu1776Val) c.4957T>G (p.Leu1653Val) n.5326T>G | |
| 13 | g.32339682dup | CA658823647 | BRCA2 | c.5327dup (p.Leu1776PhefsTer5) c.4958dup (p.Leu1653PhefsTer5) n.5327dup | ClinVar dbSNP |
| 13 | g.32339682T>A | CA387784915 | BRCA2 | c.5327T>A (p.Leu1776Ter) c.4958T>A (p.Leu1653Ter) n.5327T>A | dbSNP |
| 13 | g.32339682T>C | CA387784916 | BRCA2 | c.5327T>C (p.Leu1776Ser) c.4958T>C (p.Leu1653Ser) n.5327T>C | dbSNP |
| 13 | g.32339682T>G | CA387784918 | BRCA2 | c.5327T>G (p.Leu1776Trp) c.4958T>G (p.Leu1653Trp) n.5327T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339682T= | CA2082821967 | BRCA2 | c.5327T= (p.Leu1776=) c.4958T= (p.Leu1653=) n.5327T= | |
| 13 | g.32339682_32339685delinsTGAA | CA2082821965 | BRCA2 | c.5327_5330delinsTGAA (p.Leu1776=) c.4958_4961delinsTGAA (p.Leu1653=) n.5327_5330delinsTGAA | |
| 13 | g.32339683G>A | CA483438613 | BRCA2 | c.5328G>A (p.Leu1776=) c.4959G>A (p.Leu1653=) n.5328G>A | dbSNP |
| 13 | g.32339683G>C | CA387784920 | BRCA2 | c.5328G>C (p.Leu1776Phe) c.4959G>C (p.Leu1653Phe) n.5328G>C | dbSNP |
| 13 | g.32339683G= | CA2082821979 | BRCA2 | c.5328G= (p.Leu1776=) c.4959G= (p.Leu1653=) n.5328G= | |
| 13 | g.32339683G>T | CA387784921 | BRCA2 | c.5328G>T (p.Leu1776Phe) c.4959G>T (p.Leu1653Phe) n.5328G>T | dbSNP |
| 13 | g.32339686_32339688del | CA022026 | BRCA2 | c.5331_5333del (p.Lys1777del) c.4962_4964del (p.Lys1654del) n.5331_5333del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339683_32339689delinsGAAGAAT | CA2082821978 | BRCA2 | c.5328_5334delinsGAAGAAT (p.Leu1776=) c.4959_4965delinsGAAGAAT (p.Leu1653=) n.5328_5334delinsGAAGAAT | |
| 13 | g.32339683_32339684insT | CA645372968 | BRCA2 | c.5328_5329insT (p.Lys1777Ter) c.4959_4960insT (p.Lys1654Ter) n.5328_5329insT | ClinVar dbSNP |
| 13 | g.32339684A= | CA2082821994 | BRCA2 | c.5329A= (p.Lys1777=) c.4960A= (p.Lys1654=) n.5329A= |