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.32339971_32339976delinsAGTAAT | CA2082825361 | BRCA2 | c.5616_5621delinsAGTAAT (p.Lys1872=) c.5247_5252delinsAGTAAT (p.Lys1749=) n.5616_5621delinsAGTAAT | |
| 13 | g.32339972_32339976del | CA915948495 | BRCA2 | c.5617_5621del (p.Val1873Ter) c.5248_5252del (p.Val1750Ter) n.5617_5621del | ClinVar dbSNP |
| 13 | g.32339972_32339976delinsGTAAT | CA2082825376 | BRCA2 | c.5617_5621delinsGTAAT (p.Val1873=) c.5248_5252delinsGTAAT (p.Val1750=) n.5617_5621delinsGTAAT | |
| 13 | g.32339972_32339977delinsGTAATT | CA2082825379 | BRCA2 | c.5617_5622delinsGTAATT (p.Val1873=) c.5248_5253delinsGTAATT (p.Val1750=) n.5617_5622delinsGTAATT | |
| 13 | g.32339973_32339977del | CA913190953 | BRCA2 | c.5618_5622del (p.Val1873GlufsTer7) c.5249_5253del (p.Val1750GlufsTer7) n.5618_5622del | ClinVar dbSNP |
| 13 | g.32339976_32339979del | CA022719 | BRCA2 | c.5621_5624del (p.Ile1874ArgfsTer?) c.5252_5255del (p.Ile1751ArgfsTer?) n.5621_5624del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339976_32339983del | CA2573053814 | BRCA2 | c.5621_5628del (p.Ile1874LysfsTer5) c.5252_5259del (p.Ile1751LysfsTer5) n.5621_5628del | ClinVar dbSNP |
| 13 | g.32339976T>A | CA387786107 | BRCA2 | c.5621T>A (p.Ile1874Asn) c.5252T>A (p.Ile1751Asn) n.5621T>A | dbSNP |
| 13 | g.32339976T>C | CA387786108 | BRCA2 | c.5621T>C (p.Ile1874Thr) c.5252T>C (p.Ile1751Thr) n.5621T>C | ClinVar |
| 13 | g.32339976T>G | CA387786109 | BRCA2 | c.5621T>G (p.Ile1874Ser) c.5252T>G (p.Ile1751Ser) n.5621T>G | dbSNP gnomAD v4 |
| 13 | g.32339977dup | CA2499222206 | BRCA2 | c.5622dup (p.Lys1875Ter) c.5253dup (p.Lys1752Ter) n.5622dup | ClinVar dbSNP |
| 13 | g.32339976_32339980del | CA2499222205 | BRCA2 | c.5621_5625del (p.Ile1874ArgfsTer6) c.5252_5256del (p.Ile1751ArgfsTer6) n.5621_5625del | |
| 13 | g.32339976_32339983delinsTTAAGGAA | CA2082825402 | BRCA2 | c.5621_5628delinsTTAAGGAA (p.Ile1874=) c.5252_5259delinsTTAAGGAA (p.Ile1751=) n.5621_5628delinsTTAAGGAA | |
| 13 | g.32339977T>A | CA483438780 | BRCA2 | c.5622T>A (p.Ile1874=) c.5253T>A (p.Ile1751=) n.5622T>A | |
| 13 | g.32339977T>C | CA483438779 | BRCA2 | c.5622T>C (p.Ile1874=) c.5253T>C (p.Ile1751=) n.5622T>C | |
| 13 | g.32339977T>G | CA247510698 | BRCA2 | c.5622T>G (p.Ile1874Met) c.5253T>G (p.Ile1751Met) n.5622T>G | dbSNP gnomAD v4 |
| 13 | g.32339977T= | CA2082825412 | BRCA2 | c.5622T= (p.Ile1874=) c.5253T= (p.Ile1751=) n.5622T= | |
| 13 | g.32339977_32339978delinsTA | CA2082825409 | BRCA2 | c.5622_5623delinsTA (p.Ile1874=) c.5253_5254delinsTA (p.Ile1751=) n.5622_5623delinsTA | |
| 13 | g.32339977_32339980del | CA2499222207 | BRCA2 | c.5622_5625del (p.Ile1874MetfsTer?) c.5253_5256del (p.Ile1751MetfsTer?) n.5622_5625del | ClinVar dbSNP |
| 13 | g.32339977_32339983del | CA915948496 | BRCA2 | c.5622_5628del (p.Lys1875ThrfsTer?) c.5253_5259del (p.Lys1752ThrfsTer?) n.5622_5628del | ClinVar dbSNP |
| 13 | g.32339978A= | CA2082825418 | BRCA2 | c.5623A= (p.Lys1875=) c.5254A= (p.Lys1752=) n.5623A= | |
| 13 | g.32339978A>C | CA387786111 | BRCA2 | c.5623A>C (p.Lys1875Gln) c.5254A>C (p.Lys1752Gln) n.5623A>C | ClinVar dbSNP |
| 13 | g.32339978A>G | CA387786110 | BRCA2 | c.5623A>G (p.Lys1875Glu) c.5254A>G (p.Lys1752Glu) n.5623A>G | |
| 13 | g.32339978A>T | CA10589322 | BRCA2 | c.5623A>T (p.Lys1875Ter) c.5254A>T (p.Lys1752Ter) n.5623A>T | ClinVar dbSNP |
| 13 | g.32339979del | CA022733 | BRCA2 | c.5624del (p.Lys1875ArgfsTer?) c.5255del (p.Lys1752ArgfsTer?) n.5624del | ClinVar dbSNP |
| 13 | g.32339979A= | CA2082825428 | BRCA2 | c.5624A= (p.Lys1875=) c.5255A= (p.Lys1752=) n.5624A= | |
| 13 | g.32339979A>C | CA6940890 | BRCA2 | c.5624A>C (p.Lys1875Thr) c.5255A>C (p.Lys1752Thr) n.5624A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339979A>G | CA022730 | BRCA2 | c.5624A>G (p.Lys1875Arg) c.5255A>G (p.Lys1752Arg) n.5624A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339979A>T | CA387786112 | BRCA2 | c.5624A>T (p.Lys1875Met) c.5255A>T (p.Lys1752Met) n.5624A>T | |
| 13 | g.32339980G>A | CA483438784 | BRCA2 | c.5625G>A (p.Lys1875=) c.5256G>A (p.Lys1752=) n.5625G>A | dbSNP |
| 13 | g.32339980G>C | CA387786113 | BRCA2 | c.5625G>C (p.Lys1875Asn) c.5256G>C (p.Lys1752Asn) n.5625G>C | ClinVar dbSNP |
| 13 | g.32339980G= | CA2082825448 | BRCA2 | c.5625G= (p.Lys1875=) c.5256G= (p.Lys1752=) n.5625G= | |
| 13 | g.32339980G>T | CA387786114 | BRCA2 | c.5625G>T (p.Lys1875Asn) c.5256G>T (p.Lys1752Asn) n.5625G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339981G>A | CA022738 | BRCA2 | c.5626G>A (p.Glu1876Lys) c.5257G>A (p.Glu1753Lys) n.5626G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339981G>C | CA387786115 | BRCA2 | c.5626G>C (p.Glu1876Gln) c.5257G>C (p.Glu1753Gln) n.5626G>C | |
| 13 | g.32339981G= | CA2082825473 | BRCA2 | c.5626G= (p.Glu1876=) c.5257G= (p.Glu1753=) n.5626G= | |
| 13 | g.32339981G>T | CA022743 | BRCA2 | c.5626G>T (p.Glu1876Ter) c.5257G>T (p.Glu1753Ter) n.5626G>T | ClinVar dbSNP |
| 13 | g.32339981_32339982delinsGA | CA2082825485 | BRCA2 | c.5626_5627delinsGA (p.Glu1876=) c.5257_5258delinsGA (p.Glu1753=) n.5626_5627delinsGA | |
| 13 | g.32339982A>C | CA387786116 | BRCA2 | c.5627A>C (p.Glu1876Ala) c.5258A>C (p.Glu1753Ala) n.5627A>C | |
| 13 | g.32339982A>G | CA387786117 | BRCA2 | c.5627A>G (p.Glu1876Gly) c.5258A>G (p.Glu1753Gly) n.5627A>G | ClinVar dbSNP |
| 13 | g.32339982A>T | CA387786118 | BRCA2 | c.5627A>T (p.Glu1876Val) c.5258A>T (p.Glu1753Val) n.5627A>T | ClinVar dbSNP |
| 13 | g.32339985del | CA10579658 | BRCA2 | c.5630del (p.Asn1877ThrfsTer?) c.5261del (p.Asn1754ThrfsTer?) n.5630del | ClinVar dbSNP |
| 13 | g.32339983A>C | CA387786120 | BRCA2 | c.5628A>C (p.Glu1876Asp) c.5259A>C (p.Glu1753Asp) n.5628A>C | |
| 13 | g.32339983A>G | CA483438786 | BRCA2 | c.5628A>G (p.Glu1876=) c.5259A>G (p.Glu1753=) n.5628A>G | ClinVar dbSNP |
| 13 | g.32339983A>T | CA387786119 | BRCA2 | c.5628A>T (p.Glu1876Asp) c.5259A>T (p.Glu1753Asp) n.5628A>T | dbSNP |
| 13 | g.32339983_32339986delinsAAAC | CA2082825501 | BRCA2 | c.5628_5631delinsAAAC (p.Glu1876=) c.5259_5262delinsAAAC (p.Glu1753=) n.5628_5631delinsAAAC | |
| 13 | g.32339984A= | CA2082825508 | BRCA2 | c.5629A= (p.Asn1877=) c.5260A= (p.Asn1754=) n.5629A= |