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 |
|---|---|---|---|---|---|
| 5 | g.113064002_113064042delinsGAAAGGCTCTCCCAGGGCTGCACGCTGCAGCCGGCCACGGC | CA1573632491 | MCC | c.1585_1625delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala529=) c.2155_2195delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala719=) c.1396_1436delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala466=) c.1555_1595delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala519=) | |
| 5 | g.113064011_113064050del | CA3369999 | MCC | c.1585_1624del (p.Ala529ProfsTer28) c.2155_2194del (p.Ala719ProfsTer28) c.1396_1435del (p.Ala466ProfsTer28) c.1555_1594del (p.Ala519ProfsTer28) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064021G>A | CA360626087 | MCC | c.1606C>T (p.Gln536Ter) c.2176C>T (p.Gln726Ter) c.1417C>T (p.Gln473Ter) c.20C>T c.1576C>T (p.Gln526Ter) | |
| 5 | g.113064021G>C | CA360626088 | MCC | c.1606C>G (p.Gln536Glu) c.2176C>G (p.Gln726Glu) c.1417C>G (p.Gln473Glu) c.20C>G c.1576C>G (p.Gln526Glu) | |
| 5 | g.113064021G>T | CA360626089 | MCC | c.1606C>A (p.Gln536Lys) c.2176C>A (p.Gln726Lys) c.1417C>A (p.Gln473Lys) c.20C>A c.1576C>A (p.Gln526Lys) | |
| 5 | g.113064022C>A | CA445979285 | MCC | c.1605G>T (p.Val535=) c.2175G>T (p.Val725=) c.1416G>T (p.Val472=) c.19G>T c.1575G>T (p.Val525=) | |
| 5 | g.113064022C>G | CA445979284 | MCC | c.1605G>C (p.Val535=) c.2175G>C (p.Val725=) c.1416G>C (p.Val472=) c.19G>C c.1575G>C (p.Val525=) | |
| 5 | g.113064022C>T | CA445979283 | MCC | c.1605G>A (p.Val535=) c.2175G>A (p.Val725=) c.1416G>A (p.Val472=) c.19G>A c.1575G>A (p.Val525=) | |
| 5 | g.113064023A= | CA1573632499 | MCC | c.1604T= (p.Val535=) c.2174T= (p.Val725=) c.1415T= (p.Val472=) c.18T= c.1574T= (p.Val525=) | |
| 5 | g.113064023A>C | CA360626090 | MCC | c.1604T>G (p.Val535Gly) c.2174T>G (p.Val725Gly) c.1415T>G (p.Val472Gly) c.18T>G c.1574T>G (p.Val525Gly) | |
| 5 | g.113064023A>G | CA360626091 | MCC | c.1604T>C (p.Val535Ala) c.2174T>C (p.Val725Ala) c.1415T>C (p.Val472Ala) c.18T>C c.1574T>C (p.Val525Ala) | |
| 5 | g.113064023A>T | CA124994547 | MCC | c.1604T>A (p.Val535Glu) c.2174T>A (p.Val725Glu) c.1415T>A (p.Val472Glu) c.18T>A c.1574T>A (p.Val525Glu) | dbSNP gnomAD v4 |
| 5 | g.113064024C>A | CA360626092 | MCC | c.1603G>T (p.Val535Leu) c.2173G>T (p.Val725Leu) c.1414G>T (p.Val472Leu) c.17G>T c.1573G>T (p.Val525Leu) | gnomAD v4 |
| 5 | g.113064024C= | CA1573632500 | MCC | c.1603G= (p.Val535=) c.2173G= (p.Val725=) c.1414G= (p.Val472=) c.17G= c.1573G= (p.Val525=) | |
| 5 | g.113064024C>G | CA360626093 | MCC | c.1603G>C (p.Val535Leu) c.2173G>C (p.Val725Leu) c.1414G>C (p.Val472Leu) c.17G>C c.1573G>C (p.Val525Leu) | gnomAD v4 |
| 5 | g.113064024C>T | CA3370004 | MCC | c.1603G>A (p.Val535Met) c.2173G>A (p.Val725Met) c.1414G>A (p.Val472Met) c.17G>A c.1573G>A (p.Val525Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064025G>A | CA445979287 | MCC | c.1602C>T (p.Ser534=) c.2172C>T (p.Ser724=) c.1413C>T (p.Ser471=) c.16C>T c.1572C>T (p.Ser524=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064025G>C | CA360626094 | MCC | c.1602C>G (p.Ser534Arg) c.2172C>G (p.Ser724Arg) c.1413C>G (p.Ser471Arg) c.16C>G c.1572C>G (p.Ser524Arg) | |
| 5 | g.113064025G= | CA1573632501 | MCC | c.1602C= (p.Ser534=) c.2172C= (p.Ser724=) c.1413C= (p.Ser471=) c.16C= c.1572C= (p.Ser524=) | |
| 5 | g.113064025G>T | CA360626095 | MCC | c.1602C>A (p.Ser534Arg) c.2172C>A (p.Ser724Arg) c.1413C>A (p.Ser471Arg) c.16C>A c.1572C>A (p.Ser524Arg) | |
| 5 | g.113064026C>A | CA360626096 | MCC | c.1601G>T (p.Ser534Ile) c.2171G>T (p.Ser724Ile) c.1412G>T (p.Ser471Ile) c.15G>T c.1571G>T (p.Ser524Ile) | |
| 5 | g.113064026C= | CA1573632502 | MCC | c.1601G= (p.Ser534=) c.2171G= (p.Ser724=) c.1412G= (p.Ser471=) c.15G= c.1571G= (p.Ser524=) | |
| 5 | g.113064026C>G | CA360626097 | MCC | c.1601G>C (p.Ser534Thr) c.2171G>C (p.Ser724Thr) c.1412G>C (p.Ser471Thr) c.15G>C c.1571G>C (p.Ser524Thr) | |
| 5 | g.113064026C>T | CA124994549 | MCC | c.1601G>A (p.Ser534Asn) c.2171G>A (p.Ser724Asn) c.1412G>A (p.Ser471Asn) c.15G>A c.1571G>A (p.Ser524Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064027T>A | CA360626099 | MCC | c.1600A>T (p.Ser534Cys) c.2170A>T (p.Ser724Cys) c.1411A>T (p.Ser471Cys) c.14A>T c.1570A>T (p.Ser524Cys) | |
| 5 | g.113064027T>C | CA3370005 | MCC | c.1600A>G (p.Ser534Gly) c.2170A>G (p.Ser724Gly) c.1411A>G (p.Ser471Gly) c.14A>G c.1570A>G (p.Ser524Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064027T>G | CA360626098 | MCC | c.1600A>C (p.Ser534Arg) c.2170A>C (p.Ser724Arg) c.1411A>C (p.Ser471Arg) c.14A>C c.1570A>C (p.Ser524Arg) | |
| 5 | g.113064027T= | CA1573632503 | MCC | c.1600A= (p.Ser534=) c.2170A= (p.Ser724=) c.1411A= (p.Ser471=) c.14A= c.1570A= (p.Ser524=) | |
| 5 | g.113064028G>A | CA3370006 | MCC | c.1599C>T (p.Cys533=) c.2169C>T (p.Cys723=) c.1410C>T (p.Cys470=) c.13C>T c.1569C>T (p.Cys523=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064028G>C | CA360626100 | MCC | c.1599C>G (p.Cys533Trp) c.2169C>G (p.Cys723Trp) c.1410C>G (p.Cys470Trp) c.13C>G c.1569C>G (p.Cys523Trp) | |
| 5 | g.113064028G= | CA1573632504 | MCC | c.1599C= (p.Cys533=) c.2169C= (p.Cys723=) c.1410C= (p.Cys470=) c.13C= c.1569C= (p.Cys523=) | |
| 5 | g.113064028G>T | CA360626101 | MCC | c.1599C>A (p.Cys533Ter) c.2169C>A (p.Cys723Ter) c.1410C>A (p.Cys470Ter) c.13C>A c.1569C>A (p.Cys523Ter) | |
| 5 | g.113064029C>A | CA360626102 | MCC | c.1598G>T (p.Cys533Phe) c.2168G>T (p.Cys723Phe) c.1409G>T (p.Cys470Phe) c.12G>T c.1568G>T (p.Cys523Phe) | gnomAD v4 |
| 5 | g.113064029C>G | CA360626103 | MCC | c.1598G>C (p.Cys533Ser) c.2168G>C (p.Cys723Ser) c.1409G>C (p.Cys470Ser) c.12G>C c.1568G>C (p.Cys523Ser) | |
| 5 | g.113064029C>T | CA360626104 | MCC | c.1598G>A (p.Cys533Tyr) c.2168G>A (p.Cys723Tyr) c.1409G>A (p.Cys470Tyr) c.12G>A c.1568G>A (p.Cys523Tyr) | |
| 5 | g.113064030A= | CA1573632505 | MCC | c.1597T= (p.Cys533=) c.2167T= (p.Cys723=) c.1408T= (p.Cys470=) c.11T= c.1567T= (p.Cys523=) | |
| 5 | g.113064030A>C | CA360626105 | MCC | c.1597T>G (p.Cys533Gly) c.2167T>G (p.Cys723Gly) c.1408T>G (p.Cys470Gly) c.11T>G c.1567T>G (p.Cys523Gly) | |
| 5 | g.113064030A>G | CA360626106 | MCC | c.1597T>C (p.Cys533Arg) c.2167T>C (p.Cys723Arg) c.1408T>C (p.Cys470Arg) c.11T>C c.1567T>C (p.Cys523Arg) | |
| 5 | g.113064030A>T | CA360626107 | MCC | c.1597T>A (p.Cys533Ser) c.2167T>A (p.Cys723Ser) c.1408T>A (p.Cys470Ser) c.11T>A c.1567T>A (p.Cys523Ser) | dbSNP gnomAD v4 |
| 5 | g.113064031G>A | CA445979288 | MCC | c.1596C>T (p.Gly532=) c.2166C>T (p.Gly722=) c.1407C>T (p.Gly469=) c.10C>T c.1566C>T (p.Gly522=) | gnomAD v4 |
| 5 | g.113064031G>C | CA445979289 | MCC | c.1596C>G (p.Gly532=) c.2166C>G (p.Gly722=) c.1407C>G (p.Gly469=) c.10C>G c.1566C>G (p.Gly522=) | gnomAD v4 |
| 5 | g.113064031G>T | CA445979290 | MCC | c.1596C>A (p.Gly532=) c.2166C>A (p.Gly722=) c.1407C>A (p.Gly469=) c.10C>A c.1566C>A (p.Gly522=) | |
| 5 | g.113064031_113064032delinsGC | CA1573632506 | MCC | c.1595_1596delinsGC (p.Gly532=) c.2165_2166delinsGC (p.Gly722=) c.1406_1407delinsGC (p.Gly469=) c.9_10delinsGC c.1565_1566delinsGC (p.Gly522=) | |
| 5 | g.113064032C>A | CA360626108 | MCC | c.1595G>T (p.Gly532Val) c.2165G>T (p.Gly722Val) c.1406G>T (p.Gly469Val) c.9G>T c.1565G>T (p.Gly522Val) | |
| 5 | g.113064032C>G | CA360626109 | MCC | c.1595G>C (p.Gly532Ala) c.2165G>C (p.Gly722Ala) c.1406G>C (p.Gly469Ala) c.9G>C c.1565G>C (p.Gly522Ala) | |
| 5 | g.113064032C>T | CA360626110 | MCC | c.1595G>A (p.Gly532Asp) c.2165G>A (p.Gly722Asp) c.1406G>A (p.Gly469Asp) c.9G>A c.1565G>A (p.Gly522Asp) | |
| 5 | g.113064033del | CA3370007 | MCC | c.1595del (p.Gly532AlafsTer?) c.2165del (p.Gly722AlafsTer?) c.1406del (p.Gly469AlafsTer?) c.9del c.1565del (p.Gly522AlafsTer?) | dbSNP ExAC gnomAD v2 |
| 5 | g.113064033C>A | CA360626112 | MCC | c.1594G>T (p.Gly532Cys) c.2164G>T (p.Gly722Cys) c.1405G>T (p.Gly469Cys) c.8G>T c.1564G>T (p.Gly522Cys) | |
| 5 | g.113064033C= | CA1573632507 | MCC | c.1594G= (p.Gly532=) c.2164G= (p.Gly722=) c.1405G= (p.Gly469=) c.8G= c.1564G= (p.Gly522=) | |
| 5 | g.113064033C>G | CA360626111 | MCC | c.1594G>C (p.Gly532Arg) c.2164G>C (p.Gly722Arg) c.1405G>C (p.Gly469Arg) c.8G>C c.1564G>C (p.Gly522Arg) |