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.113064016G>A | CA3370001 | MCC | c.1611C>T (p.Pro537=) c.2181C>T (p.Pro727=) c.1422C>T (p.Pro474=) c.25C>T c.1581C>T (p.Pro527=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064016G>C | CA445979278 | MCC | c.1611C>G (p.Pro537=) c.2181C>G (p.Pro727=) c.1422C>G (p.Pro474=) c.25C>G c.1581C>G (p.Pro527=) | |
| 5 | g.113064016G= | CA1573632496 | MCC | c.1611C= (p.Pro537=) c.2181C= (p.Pro727=) c.1422C= (p.Pro474=) c.25C= c.1581C= (p.Pro527=) | |
| 5 | g.113064016G>T | CA445979279 | MCC | c.1611C>A (p.Pro537=) c.2181C>A (p.Pro727=) c.1422C>A (p.Pro474=) c.25C>A c.1581C>A (p.Pro527=) | |
| 5 | g.113064017G>A | CA3370002 | MCC | c.1610C>T (p.Pro537Leu) c.2180C>T (p.Pro727Leu) c.1421C>T (p.Pro474Leu) c.24C>T c.1580C>T (p.Pro527Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064017G>C | CA360626078 | MCC | c.1610C>G (p.Pro537Arg) c.2180C>G (p.Pro727Arg) c.1421C>G (p.Pro474Arg) c.24C>G c.1580C>G (p.Pro527Arg) | |
| 5 | g.113064017G= | CA1573632497 | MCC | c.1610C= (p.Pro537=) c.2180C= (p.Pro727=) c.1421C= (p.Pro474=) c.24C= c.1580C= (p.Pro527=) | |
| 5 | g.113064017G>T | CA360626079 | MCC | c.1610C>A (p.Pro537His) c.2180C>A (p.Pro727His) c.1421C>A (p.Pro474His) c.24C>A c.1580C>A (p.Pro527His) | |
| 5 | g.113064018G>A | CA360626080 | MCC | c.1609C>T (p.Pro537Ser) c.2179C>T (p.Pro727Ser) c.1420C>T (p.Pro474Ser) c.23C>T c.1579C>T (p.Pro527Ser) | |
| 5 | g.113064018G>C | CA360626081 | MCC | c.1609C>G (p.Pro537Ala) c.2179C>G (p.Pro727Ala) c.1420C>G (p.Pro474Ala) c.23C>G c.1579C>G (p.Pro527Ala) | |
| 5 | g.113064018G>T | CA360626082 | MCC | c.1609C>A (p.Pro537Thr) c.2179C>A (p.Pro727Thr) c.1420C>A (p.Pro474Thr) c.23C>A c.1579C>A (p.Pro527Thr) | |
| 5 | g.113064019C>A | CA3370003 | MCC | c.1608G>T (p.Gln536His) c.2178G>T (p.Gln726His) c.1419G>T (p.Gln473His) c.22G>T c.1578G>T (p.Gln526His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064019C= | CA1573632498 | MCC | c.1608G= (p.Gln536=) c.2178G= (p.Gln726=) c.1419G= (p.Gln473=) c.22G= c.1578G= (p.Gln526=) | |
| 5 | g.113064019C>G | CA360626083 | MCC | c.1608G>C (p.Gln536His) c.2178G>C (p.Gln726His) c.1419G>C (p.Gln473His) c.22G>C c.1578G>C (p.Gln526His) | |
| 5 | g.113064019C>T | CA445979281 | MCC | c.1608G>A (p.Gln536=) c.2178G>A (p.Gln726=) c.1419G>A (p.Gln473=) c.22G>A c.1578G>A (p.Gln526=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064020T>A | CA360626085 | MCC | c.1607A>T (p.Gln536Leu) c.2177A>T (p.Gln726Leu) c.1418A>T (p.Gln473Leu) c.21A>T c.1577A>T (p.Gln526Leu) | |
| 5 | g.113064020T>C | CA360626086 | MCC | c.1607A>G (p.Gln536Arg) c.2177A>G (p.Gln726Arg) c.1418A>G (p.Gln473Arg) c.21A>G c.1577A>G (p.Gln526Arg) | gnomAD v4 |
| 5 | g.113064020T>G | CA360626084 | MCC | c.1607A>C (p.Gln536Pro) c.2177A>C (p.Gln726Pro) c.1418A>C (p.Gln473Pro) c.21A>C c.1577A>C (p.Gln526Pro) | 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) |