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.32338693_32338694delinsTG | CA2082810804 | BRCA2 | c.4338_4339delinsTG (p.Ile1446=) c.3969_3970delinsTG (p.Ile1323=) n.4338_4339delinsTG | |
| 13 | g.32338694del | CA020014 | BRCA2 | c.4339del (p.Val1447Ter) c.3970del (p.Val1324Ter) n.4339del | ClinVar dbSNP |
| 13 | g.32338694G>A | CA16619706 | BRCA2 | c.4339G>A (p.Val1447Ile) c.3970G>A (p.Val1324Ile) n.4339G>A | ClinVar dbSNP |
| 13 | g.32338694G>C | CA387780883 | BRCA2 | c.4339G>C (p.Val1447Leu) c.3970G>C (p.Val1324Leu) n.4339G>C | dbSNP |
| 13 | g.32338694G= | CA2082810824 | BRCA2 | c.4339G= (p.Val1447=) c.3970G= (p.Val1324=) n.4339G= | |
| 13 | g.32338694G>T | CA387780881 | BRCA2 | c.4339G>T (p.Val1447Leu) c.3970G>T (p.Val1324Leu) n.4339G>T | ClinVar |
| 13 | g.32338695T>A | CA387780885 | BRCA2 | c.4340T>A (p.Val1447Glu) c.3971T>A (p.Val1324Glu) n.4340T>A | |
| 13 | g.32338695T>C | CA387780887 | BRCA2 | c.4340T>C (p.Val1447Ala) c.3971T>C (p.Val1324Ala) n.4340T>C | ClinVar dbSNP |
| 13 | g.32338695T>G | CA387780888 | BRCA2 | c.4340T>G (p.Val1447Gly) c.3971T>G (p.Val1324Gly) n.4340T>G | |
| 13 | g.32338695T= | CA2082810830 | BRCA2 | c.4340T= (p.Val1447=) c.3971T= (p.Val1324=) n.4340T= | |
| 13 | g.32338696A>C | CA483438241 | BRCA2 | c.4341A>C (p.Val1447=) c.3972A>C (p.Val1324=) n.4341A>C | |
| 13 | g.32338696A>G | CA483438242 | BRCA2 | c.4341A>G (p.Val1447=) c.3972A>G (p.Val1324=) n.4341A>G | ClinVar dbSNP |
| 13 | g.32338696A>T | CA483438243 | BRCA2 | c.4341A>T (p.Val1447=) c.3972A>T (p.Val1324=) n.4341A>T | dbSNP |
| 13 | g.32338697_32338698del | CA2499222163 | BRCA2 | c.4342_4343del (p.Asn1448PhefsTer3) c.3973_3974del (p.Asn1325PhefsTer3) n.4342_4343del | ClinVar |
| 13 | g.32338697A>C | CA387780889 | BRCA2 | c.4342A>C (p.Asn1448His) c.3973A>C (p.Asn1325His) n.4342A>C | |
| 13 | g.32338697A>G | CA387780891 | BRCA2 | c.4342A>G (p.Asn1448Asp) c.3973A>G (p.Asn1325Asp) n.4342A>G | |
| 13 | g.32338697A>T | CA387780892 | BRCA2 | c.4342A>T (p.Asn1448Tyr) c.3973A>T (p.Asn1325Tyr) n.4342A>T | dbSNP |
| 13 | g.32338698A= | CA2082810838 | BRCA2 | c.4343A= (p.Asn1448=) c.3974A= (p.Asn1325=) n.4343A= | |
| 13 | g.32338698A>C | CA387780896 | BRCA2 | c.4343A>C (p.Asn1448Thr) c.3974A>C (p.Asn1325Thr) n.4343A>C | |
| 13 | g.32338698A>G | CA387780894 | BRCA2 | c.4343A>G (p.Asn1448Ser) c.3974A>G (p.Asn1325Ser) n.4343A>G | |
| 13 | g.32338698A>T | CA6940772 | BRCA2 | c.4343A>T (p.Asn1448Ile) c.3974A>T (p.Asn1325Ile) n.4343A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338698_32338703delinsATTTCT | CA2082810852 | BRCA2 | c.4343_4348delinsATTTCT (p.Asn1448=) c.3974_3979delinsATTTCT (p.Asn1325=) n.4343_4348delinsATTTCT | |
| 13 | g.32338699T>A | CA387780897 | BRCA2 | c.4344T>A (p.Asn1448Lys) c.3975T>A (p.Asn1325Lys) n.4344T>A | dbSNP |
| 13 | g.32338699T>C | CA483438246 | BRCA2 | c.4344T>C (p.Asn1448=) c.3975T>C (p.Asn1325=) n.4344T>C | gnomAD v4 |
| 13 | g.32338699T>G | CA16619707 | BRCA2 | c.4344T>G (p.Asn1448Lys) c.3975T>G (p.Asn1325Lys) n.4344T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338699T= | CA2082810863 | BRCA2 | c.4344T= (p.Asn1448=) c.3975T= (p.Asn1325=) n.4344T= | |
| 13 | g.32338700_32338701dup | CA891842167 | BRCA2 | c.4345_4346dup (p.Phe1450SerfsTer14) c.3976_3977dup (p.Phe1327SerfsTer14) n.4345_4346dup | |
| 13 | g.32338701_32338705del | CA645509346 | BRCA2 | c.4346_4350del (p.Phe1449Ter) c.3977_3981del (p.Phe1326Ter) n.4346_4350del | ClinVar dbSNP |
| 13 | g.32338700T>A | CA387780900 | BRCA2 | c.4345T>A (p.Phe1449Ile) c.3976T>A (p.Phe1326Ile) n.4345T>A | |
| 13 | g.32338700T>C | CA387780901 | BRCA2 | c.4345T>C (p.Phe1449Leu) c.3976T>C (p.Phe1326Leu) n.4345T>C | |
| 13 | g.32338700T>G | CA387780903 | BRCA2 | c.4345T>G (p.Phe1449Val) c.3976T>G (p.Phe1326Val) n.4345T>G | dbSNP |
| 13 | g.32338701T>A | CA387780905 | BRCA2 | c.4346T>A (p.Phe1449Tyr) c.3977T>A (p.Phe1326Tyr) n.4346T>A | dbSNP |
| 13 | g.32338701T>C | CA387780908 | BRCA2 | c.4346T>C (p.Phe1449Ser) c.3977T>C (p.Phe1326Ser) n.4346T>C | ClinVar |
| 13 | g.32338701T>G | CA387780907 | BRCA2 | c.4346T>G (p.Phe1449Cys) c.3977T>G (p.Phe1326Cys) n.4346T>G | |
| 13 | g.32338702C>A | CA16614149 | BRCA2 | c.4347C>A (p.Phe1449Leu) c.3978C>A (p.Phe1326Leu) n.4347C>A | ClinVar dbSNP |
| 13 | g.32338702C= | CA2082810872 | BRCA2 | c.4347C= (p.Phe1449=) c.3978C= (p.Phe1326=) n.4347C= | |
| 13 | g.32338702C>G | CA387780909 | BRCA2 | c.4347C>G (p.Phe1449Leu) c.3978C>G (p.Phe1326Leu) n.4347C>G | dbSNP |
| 13 | g.32338702C>T | CA483438252 | BRCA2 | c.4347C>T (p.Phe1449=) c.3978C>T (p.Phe1326=) n.4347C>T | dbSNP |
| 13 | g.32338703T>A | CA387780912 | BRCA2 | c.4348T>A (p.Phe1450Ile) c.3979T>A (p.Phe1327Ile) n.4348T>A | dbSNP |
| 13 | g.32338703T>C | CA387780913 | BRCA2 | c.4348T>C (p.Phe1450Leu) c.3979T>C (p.Phe1327Leu) n.4348T>C | |
| 13 | g.32338703T>G | CA387780919 | BRCA2 | c.4348T>G (p.Phe1450Val) c.3979T>G (p.Phe1327Val) n.4348T>G | |
| 13 | g.32338705dup | CA2580087275 | BRCA2 | c.4350dup (p.Asp1451Ter) c.3981dup (p.Asp1328Ter) n.4350dup | ClinVar |
| 13 | g.32338704T>A | CA387780921 | BRCA2 | c.4349T>A (p.Phe1450Tyr) c.3980T>A (p.Phe1327Tyr) n.4349T>A | dbSNP |
| 13 | g.32338704T>C | CA020021 | BRCA2 | c.4349T>C (p.Phe1450Ser) c.3980T>C (p.Phe1327Ser) n.4349T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338704T>G | CA387780924 | BRCA2 | c.4349T>G (p.Phe1450Cys) c.3980T>G (p.Phe1327Cys) n.4349T>G | |
| 13 | g.32338704T= | CA2082810885 | BRCA2 | c.4349T= (p.Phe1450=) c.3980T= (p.Phe1327=) n.4349T= | |
| 13 | g.32338705T>A | CA387780926 | BRCA2 | c.4350T>A (p.Phe1450Leu) c.3981T>A (p.Phe1327Leu) n.4350T>A | dbSNP |
| 13 | g.32338705T>C | CA483438254 | BRCA2 | c.4350T>C (p.Phe1450=) c.3981T>C (p.Phe1327=) n.4350T>C | COSMIC COSMIC |
| 13 | g.32338705T>G | CA387780927 | BRCA2 | c.4350T>G (p.Phe1450Leu) c.3981T>G (p.Phe1327Leu) n.4350T>G | |
| 13 | g.32338706G>A | CA387780929 | BRCA2 | c.4351G>A (p.Asp1451Asn) c.3982G>A (p.Asp1328Asn) n.4351G>A | ClinVar dbSNP |