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.32324894_32328983dup | CA2580086925 | BRCA2 | c.317-182_632-460dup c.-53-182_263-460dup c.*95+68_*411-460dup n.515-182_830-460dup n.317-182_632-460dup | ClinVar |
| 13 | g.32326101_32326613del | CA2581463424 | BRCA2 | c.426_631del c.57_262del n.297_502del c.*205_*410del n.624_829del n.426_631del | |
| 13 | g.32326471_32326622del | CA2695217875 | BRCA2 | c.517-28_631+9del c.148-28_262+9del n.388-28_511del c.*296-28_*410+9del n.715-28_829+9del n.517-28_631+9del | |
| 13 | g.32326497_32326614del | CA2499222047 | BRCA2 | c.517-2_631+1del c.148-2_262+1del n.388-2_503del c.*296-2_*410+1del n.715-2_829+1del n.517-2_631+1del | ClinVar dbSNP |
| 13 | g.32326499_32327075delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | CA2082751656 | BRCA2 | c.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.148_262+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA c.*296_*410+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.715_829+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA n.517_631+462delinsGGTCGTCAGACACCAAAACATATTTCTGAAAGTCTAGGAGCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTTACAAGAAAGAGCAGATGAGGTTGATAATTGTCATCTCTAATACTTCTGTTAAAAGGAAATATGAAAAGAAAATATTAGATAATGTCTTTGATAAGTGTGTTAGTAACTGACAATAATTTTATTCTATTAAGTGTAGATTGGAATAAATACAAATACATTTAGTGGTAGTCCAGTGGTGTCAAGCATTATGTTTTAGTACGATGTGATTAACGTAGAATAGCTTACAAATATTCCTTTACTGGCCTATATAAGCGTTTAAGAGGCAGTATTTGGTGTGACTGAATTCTTTTTACAAATGATTGTGGTAATTGGGGCATTAAAGCAGCATTAAATAAGCTTTTGTTTTCTCTACTTAAATGTGTTCTAAGGTCTGTATTGCCAGTAGTACTGAATTGAGGTCTTAAATTCCACAAGTGTAATTACACAACTATGTGATAAA | |
| 13 | g.32326500_32327075del | CA1139663062 | BRCA2 | c.518_631+462del c.149_262+462del c.*297_*410+462del n.716_829+462del n.518_631+462del | ClinVar dbSNP |
| 13 | g.32326500_32327075delinsAAAGAAATTTTATTTCTTT | CA2697551694 | BRCA2 | c.518_631+462delinsAAAGAAATTTTATTTCTTT c.149_262+462delinsAAAGAAATTTTATTTCTTT c.*297_*410+462delinsAAAGAAATTTTATTTCTTT n.716_829+462delinsAAAGAAATTTTATTTCTTT n.518_631+462delinsAAAGAAATTTTATTTCTTT | ClinVar |
| 13 | g.32326523_32326524delinsTC | CA2082751866 | BRCA2 | c.541_542delinsTC (p.Ser181=) c.172_173delinsTC (p.Ser58=) n.412_413delinsTC c.*320_*321delinsTC (n.*320_*321delinsTC) n.739_740delinsTC n.541_542delinsTC | |
| 13 | g.32326524del | CA919242690 | BRCA2 | c.542del (p.Ser181LeufsTer4) c.173del (p.Ser58LeufsTer4) n.413del c.*321del (n.*321del) n.740del n.542del | dbSNP |
| 13 | g.32326524C>A | CA387757865 | BRCA2 | c.542C>A (p.Ser181Tyr) c.173C>A (p.Ser58Tyr) n.413C>A c.*321C>A (n.*321C>A) n.740C>A n.542C>A | dbSNP gnomAD v4 |
| 13 | g.32326524C= | CA2082751876 | BRCA2 | c.542C= (p.Ser181=) c.173C= (p.Ser58=) n.413C= c.*321C= (n.*321C=) n.740C= n.542C= | |
| 13 | g.32326524C>G | CA387757864 | BRCA2 | c.542C>G (p.Ser181Cys) c.173C>G (p.Ser58Cys) n.413C>G c.*321C>G (n.*321C>G) n.740C>G n.542C>G | dbSNP |
| 13 | g.32326524C>T | CA387757862 | BRCA2 | c.542C>T (p.Ser181Phe) c.173C>T (p.Ser58Phe) n.413C>T c.*321C>T (n.*321C>T) n.740C>T n.542C>T | ClinVar dbSNP |
| 13 | g.32326525T>A | CA483273836 | BRCA2 | c.543T>A (p.Ser181=) c.174T>A (p.Ser58=) n.414T>A c.*322T>A (n.*322T>A) n.741T>A n.543T>A | |
| 13 | g.32326525T>C | CA483273837 | BRCA2 | c.543T>C (p.Ser181=) c.174T>C (p.Ser58=) n.414T>C c.*322T>C (n.*322T>C) n.741T>C n.543T>C | dbSNP |
| 13 | g.32326525T>G | CA483273838 | BRCA2 | c.543T>G (p.Ser181=) c.174T>G (p.Ser58=) n.414T>G c.*322T>G (n.*322T>G) n.741T>G n.543T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326526G>A | CA387757869 | BRCA2 | c.544G>A (p.Glu182Lys) c.175G>A (p.Glu59Lys) n.415G>A c.*323G>A (n.*323G>A) n.742G>A n.544G>A | dbSNP |
| 13 | g.32326526G>C | CA10579463 | BRCA2 | c.544G>C (p.Glu182Gln) c.175G>C (p.Glu59Gln) n.415G>C c.*323G>C (n.*323G>C) n.742G>C n.544G>C | ClinVar dbSNP |
| 13 | g.32326526G= | CA2082751888 | BRCA2 | c.544G= (p.Glu182=) c.175G= (p.Glu59=) n.415G= c.*323G= (n.*323G=) n.742G= n.544G= | |
| 13 | g.32326526G>T | CA387757870 | BRCA2 | c.544G>T (p.Glu182Ter) c.175G>T (p.Glu59Ter) n.415G>T c.*323G>T (n.*323G>T) n.742G>T n.544G>T | ClinVar dbSNP |
| 13 | g.32326527A= | CA2082751909 | BRCA2 | c.545A= (p.Glu182=) c.176A= (p.Glu59=) n.416A= c.*324A= (n.*324A=) n.743A= n.545A= | |
| 13 | g.32326527A>C | CA387757871 | BRCA2 | c.545A>C (p.Glu182Ala) c.176A>C (p.Glu59Ala) n.416A>C c.*324A>C (n.*324A>C) n.743A>C n.545A>C | ClinVar dbSNP |
| 13 | g.32326527A>G | CA022358 | BRCA2 | c.545A>G (p.Glu182Gly) c.176A>G (p.Glu59Gly) n.416A>G c.*324A>G (n.*324A>G) n.743A>G n.545A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32326527A>T | CA387757873 | BRCA2 | c.545A>T (p.Glu182Val) c.176A>T (p.Glu59Val) n.416A>T c.*324A>T (n.*324A>T) n.743A>T n.545A>T | dbSNP |
| 13 | g.32326529del | CA2695217876 | BRCA2 | c.547del (p.Ser183ValfsTer2) c.178del (p.Ser60ValfsTer2) n.418del c.*326del (n.*326del) n.745del n.547del | |
| 13 | g.32326528A>C | CA387757876 | BRCA2 | c.546A>C (p.Glu182Asp) c.177A>C (p.Glu59Asp) n.417A>C c.*325A>C (n.*325A>C) n.744A>C n.546A>C | |
| 13 | g.32326528A>G | CA483273839 | BRCA2 | c.546A>G (p.Glu182=) c.177A>G (p.Glu59=) n.417A>G c.*325A>G (n.*325A>G) n.744A>G n.546A>G | ClinVar |
| 13 | g.32326528A>T | CA387757877 | BRCA2 | c.546A>T (p.Glu182Asp) c.177A>T (p.Glu59Asp) n.417A>T c.*325A>T (n.*325A>T) n.744A>T n.546A>T | dbSNP |
| 13 | g.32326529A>C | CA387757880 | BRCA2 | c.547A>C (p.Ser183Arg) c.178A>C (p.Ser60Arg) n.418A>C c.*326A>C (n.*326A>C) n.745A>C n.547A>C | |
| 13 | g.32326529A>G | CA387757881 | BRCA2 | c.547A>G (p.Ser183Gly) c.178A>G (p.Ser60Gly) n.418A>G c.*326A>G (n.*326A>G) n.745A>G n.547A>G | ClinVar dbSNP |
| 13 | g.32326529A>T | CA387757882 | BRCA2 | c.547A>T (p.Ser183Cys) c.178A>T (p.Ser60Cys) n.418A>T c.*326A>T (n.*326A>T) n.745A>T n.547A>T | dbSNP |
| 13 | g.32326530G>A | CA336276 | BRCA2 | c.548G>A (p.Ser183Asn) c.179G>A (p.Ser60Asn) n.419G>A c.*327G>A (n.*327G>A) n.746G>A n.548G>A | ClinVar dbSNP |
| 13 | g.32326530G>C | CA387757886 | BRCA2 | c.548G>C (p.Ser183Thr) c.179G>C (p.Ser60Thr) n.419G>C c.*327G>C (n.*327G>C) n.746G>C n.548G>C | ClinVar dbSNP |
| 13 | g.32326530G= | CA2082751916 | BRCA2 | c.548G= (p.Ser183=) c.179G= (p.Ser60=) n.419G= c.*327G= (n.*327G=) n.746G= n.548G= | |
| 13 | g.32326530G>T | CA387757884 | BRCA2 | c.548G>T (p.Ser183Ile) c.179G>T (p.Ser60Ile) n.419G>T c.*327G>T (n.*327G>T) n.746G>T n.548G>T | dbSNP |
| 13 | g.32326531T>A | CA387757887 | BRCA2 | c.549T>A (p.Ser183Arg) c.180T>A (p.Ser60Arg) n.420T>A c.*328T>A (n.*328T>A) n.747T>A n.549T>A | dbSNP |
| 13 | g.32326531T>C | CA022459 | BRCA2 | c.549T>C (p.Ser183=) c.180T>C (p.Ser60=) n.420T>C c.*328T>C (n.*328T>C) n.747T>C n.549T>C | ClinVar dbSNP |
| 13 | g.32326531T>G | CA387757889 | BRCA2 | c.549T>G (p.Ser183Arg) c.180T>G (p.Ser60Arg) n.420T>G c.*328T>G (n.*328T>G) n.747T>G n.549T>G | dbSNP |
| 13 | g.32326531T= | CA2082751929 | BRCA2 | c.549T= (p.Ser183=) c.180T= (p.Ser60=) n.420T= c.*328T= (n.*328T=) n.747T= n.549T= | |
| 13 | g.32326532C>A | CA387757891 | BRCA2 | c.550C>A (p.Leu184Ile) c.181C>A (p.Leu61Ile) n.421C>A c.*329C>A (n.*329C>A) n.748C>A n.550C>A | dbSNP |
| 13 | g.32326532C= | CA2082751941 | BRCA2 | c.550C= (p.Leu184=) c.181C= (p.Leu61=) n.421C= c.*329C= (n.*329C=) n.748C= n.550C= | |
| 13 | g.32326532C>G | CA6940398 | BRCA2 | c.550C>G (p.Leu184Val) c.181C>G (p.Leu61Val) n.421C>G c.*329C>G (n.*329C>G) n.748C>G n.550C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32326532C>T | CA483273843 | BRCA2 | c.550C>T (p.Leu184=) c.181C>T (p.Leu61=) n.421C>T c.*329C>T (n.*329C>T) n.748C>T n.550C>T | ClinVar dbSNP |
| 13 | g.32326533T>A | CA387757898 | BRCA2 | c.551T>A (p.Leu184Gln) c.182T>A (p.Leu61Gln) n.422T>A c.*330T>A (n.*330T>A) n.749T>A n.551T>A | dbSNP |
| 13 | g.32326533T>C | CA022493 | BRCA2 | c.551T>C (p.Leu184Pro) c.182T>C (p.Leu61Pro) n.422T>C c.*330T>C (n.*330T>C) n.749T>C n.551T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32326533T>G | CA387757900 | BRCA2 | c.551T>G (p.Leu184Arg) c.182T>G (p.Leu61Arg) n.422T>G c.*330T>G (n.*330T>G) n.749T>G n.551T>G | gnomAD v4 |
| 13 | g.32326533T= | CA2082751956 | BRCA2 | c.551T= (p.Leu184=) c.182T= (p.Leu61=) n.422T= c.*330T= (n.*330T=) n.749T= n.551T= | |
| 13 | g.32326534A= | CA2082751969 | BRCA2 | c.552A= (p.Leu184=) c.183A= (p.Leu61=) n.423A= c.*331A= (n.*331A=) n.750A= n.552A= | |
| 13 | g.32326534A>C | CA483273849 | BRCA2 | c.552A>C (p.Leu184=) c.183A>C (p.Leu61=) n.423A>C c.*331A>C (n.*331A>C) n.750A>C n.552A>C | |
| 13 | g.32326534A>G | CA483273848 | BRCA2 | c.552A>G (p.Leu184=) c.183A>G (p.Leu61=) n.423A>G c.*331A>G (n.*331A>G) n.750A>G n.552A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |