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 |
|---|---|---|---|---|---|
| 11 | g.22262189_22262212delinsAGTTTGTAAATTTTTACTCATCCT | CA1957419832 | ANO5 | c.1241_1264delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln414=) c.1649_1672delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln550=) n.2685_2708delinsAGTTTGTAAATTTTTACTCATCCT c.1646_1669delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln549=) c.1691_1714delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln564=) n.2026_2049delinsAGTTTGTAAATTTTTACTCATCCT c.1688_1711delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln563=) c.1613_1636delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln538=) c.1610_1633delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln537=) c.1598_1621delinsAGTTTGTAAATTTTTACTCATCCT (p.Gln533=) | |
| 11 | g.22262191_22262213del | CA658823111 | ANO5 | c.1243_1265del (p.Phe415LeufsTer7) c.1651_1673del (p.Phe551LeufsTer7) n.2687_2709del c.1648_1670del (p.Phe550LeufsTer7) c.1693_1715del (p.Phe565LeufsTer7) n.2028_2050del c.1690_1712del (p.Phe564LeufsTer7) c.1615_1637del (p.Phe539LeufsTer7) c.1612_1634del (p.Phe538LeufsTer7) c.1600_1622del (p.Phe534LeufsTer7) | ClinVar dbSNP |
| 11 | g.22262207C>A | CA379922650 | ANO5 | c.1259C>A (p.Ser420Ter) c.1667C>A (p.Ser556Ter) n.2703C>A c.1664C>A (p.Ser555Ter) c.1709C>A (p.Ser570Ter) n.2044C>A c.1706C>A (p.Ser569Ter) c.1631C>A (p.Ser544Ter) c.1628C>A (p.Ser543Ter) c.1616C>A (p.Ser539Ter) | |
| 11 | g.22262207C= | CA1957419839 | ANO5 | c.1259C= (p.Ser420=) c.1667C= (p.Ser556=) n.2703C= c.1664C= (p.Ser555=) c.1709C= (p.Ser570=) n.2044C= c.1706C= (p.Ser569=) c.1631C= (p.Ser544=) c.1628C= (p.Ser543=) c.1616C= (p.Ser539=) | |
| 11 | g.22262207C>G | CA201303 | ANO5 | c.1259C>G (p.Ser420Ter) c.1667C>G (p.Ser556Ter) n.2703C>G c.1664C>G (p.Ser555Ter) c.1709C>G (p.Ser570Ter) n.2044C>G c.1706C>G (p.Ser569Ter) c.1631C>G (p.Ser544Ter) c.1628C>G (p.Ser543Ter) c.1616C>G (p.Ser539Ter) | ClinVar dbSNP |
| 11 | g.22262207C>T | CA5923325 | ANO5 | c.1259C>T (p.Ser420Leu) c.1667C>T (p.Ser556Leu) n.2703C>T c.1664C>T (p.Ser555Leu) c.1709C>T (p.Ser570Leu) n.2044C>T c.1706C>T (p.Ser569Leu) c.1631C>T (p.Ser544Leu) c.1628C>T (p.Ser543Leu) c.1616C>T (p.Ser539Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22262208A>C | CA473407246 | ANO5 | c.1260A>C (p.Ser420=) c.1668A>C (p.Ser556=) n.2704A>C c.1665A>C (p.Ser555=) c.1710A>C (p.Ser570=) n.2045A>C c.1707A>C (p.Ser569=) c.1632A>C (p.Ser544=) c.1629A>C (p.Ser543=) c.1617A>C (p.Ser539=) | |
| 11 | g.22262208A>G | CA473407248 | ANO5 | c.1260A>G (p.Ser420=) c.1668A>G (p.Ser556=) n.2704A>G c.1665A>G (p.Ser555=) c.1710A>G (p.Ser570=) n.2045A>G c.1707A>G (p.Ser569=) c.1632A>G (p.Ser544=) c.1629A>G (p.Ser543=) c.1617A>G (p.Ser539=) | gnomAD v4 |
| 11 | g.22262208A>T | CA473407247 | ANO5 | c.1260A>T (p.Ser420=) c.1668A>T (p.Ser556=) n.2704A>T c.1665A>T (p.Ser555=) c.1710A>T (p.Ser570=) n.2045A>T c.1707A>T (p.Ser569=) c.1632A>T (p.Ser544=) c.1629A>T (p.Ser543=) c.1617A>T (p.Ser539=) | gnomAD v4 |
| 11 | g.22262209T>A | CA218767991 | ANO5 | c.1261T>A (p.Ser421Thr) c.1669T>A (p.Ser557Thr) n.2705T>A c.1666T>A (p.Ser556Thr) c.1711T>A (p.Ser571Thr) n.2046T>A c.1708T>A (p.Ser570Thr) c.1633T>A (p.Ser545Thr) c.1630T>A (p.Ser544Thr) c.1618T>A (p.Ser540Thr) | dbSNP gnomAD v4 |
| 11 | g.22262209T>C | CA379922651 | ANO5 | c.1261T>C (p.Ser421Pro) c.1669T>C (p.Ser557Pro) n.2705T>C c.1666T>C (p.Ser556Pro) c.1711T>C (p.Ser571Pro) n.2046T>C c.1708T>C (p.Ser570Pro) c.1633T>C (p.Ser545Pro) c.1630T>C (p.Ser544Pro) c.1618T>C (p.Ser540Pro) | ClinVar |
| 11 | g.22262209T>G | CA379922652 | ANO5 | c.1261T>G (p.Ser421Ala) c.1669T>G (p.Ser557Ala) n.2705T>G c.1666T>G (p.Ser556Ala) c.1711T>G (p.Ser571Ala) n.2046T>G c.1708T>G (p.Ser570Ala) c.1633T>G (p.Ser545Ala) c.1630T>G (p.Ser544Ala) c.1618T>G (p.Ser540Ala) | |
| 11 | g.22262209T= | CA1957419840 | ANO5 | c.1261T= (p.Ser421=) c.1669T= (p.Ser557=) n.2705T= c.1666T= (p.Ser556=) c.1711T= (p.Ser571=) n.2046T= c.1708T= (p.Ser570=) c.1633T= (p.Ser545=) c.1630T= (p.Ser544=) c.1618T= (p.Ser540=) | |
| 11 | g.22262210C>A | CA379922653 | ANO5 | c.1262C>A (p.Ser421Tyr) c.1670C>A (p.Ser557Tyr) n.2706C>A c.1667C>A (p.Ser556Tyr) c.1712C>A (p.Ser571Tyr) n.2047C>A c.1709C>A (p.Ser570Tyr) c.1634C>A (p.Ser545Tyr) c.1631C>A (p.Ser544Tyr) c.1619C>A (p.Ser540Tyr) | |
| 11 | g.22262210C= | CA1957419841 | ANO5 | c.1262C= (p.Ser421=) c.1670C= (p.Ser557=) n.2706C= c.1667C= (p.Ser556=) c.1712C= (p.Ser571=) n.2047C= c.1709C= (p.Ser570=) c.1634C= (p.Ser545=) c.1631C= (p.Ser544=) c.1619C= (p.Ser540=) | |
| 11 | g.22262210C>G | CA379922654 | ANO5 | c.1262C>G (p.Ser421Cys) c.1670C>G (p.Ser557Cys) n.2706C>G c.1667C>G (p.Ser556Cys) c.1712C>G (p.Ser571Cys) n.2047C>G c.1709C>G (p.Ser570Cys) c.1634C>G (p.Ser545Cys) c.1631C>G (p.Ser544Cys) c.1619C>G (p.Ser540Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22262210C>T | CA379922655 | ANO5 | c.1262C>T (p.Ser421Phe) c.1670C>T (p.Ser557Phe) n.2706C>T c.1667C>T (p.Ser556Phe) c.1712C>T (p.Ser571Phe) n.2047C>T c.1709C>T (p.Ser570Phe) c.1634C>T (p.Ser545Phe) c.1631C>T (p.Ser544Phe) c.1619C>T (p.Ser540Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22262211C>A | CA473407249 | ANO5 | c.1263C>A (p.Ser421=) c.1671C>A (p.Ser557=) n.2707C>A c.1668C>A (p.Ser556=) c.1713C>A (p.Ser571=) n.2048C>A c.1710C>A (p.Ser570=) c.1635C>A (p.Ser545=) c.1632C>A (p.Ser544=) c.1620C>A (p.Ser540=) | |
| 11 | g.22262211C>G | CA473407250 | ANO5 | c.1263C>G (p.Ser421=) c.1671C>G (p.Ser557=) n.2707C>G c.1668C>G (p.Ser556=) c.1713C>G (p.Ser571=) n.2048C>G c.1710C>G (p.Ser570=) c.1635C>G (p.Ser545=) c.1632C>G (p.Ser544=) c.1620C>G (p.Ser540=) | |
| 11 | g.22262211C>T | CA473407251 | ANO5 | c.1263C>T (p.Ser421=) c.1671C>T (p.Ser557=) n.2707C>T c.1668C>T (p.Ser556=) c.1713C>T (p.Ser571=) n.2048C>T c.1710C>T (p.Ser570=) c.1635C>T (p.Ser545=) c.1632C>T (p.Ser544=) c.1620C>T (p.Ser540=) | |
| 11 | g.22262212T>A | CA379922656 | ANO5 | c.1264T>A (p.Cys422Ser) c.1672T>A (p.Cys558Ser) n.2708T>A c.1669T>A (p.Cys557Ser) c.1714T>A (p.Cys572Ser) n.2049T>A c.1711T>A (p.Cys571Ser) c.1636T>A (p.Cys546Ser) c.1633T>A (p.Cys545Ser) c.1621T>A (p.Cys541Ser) | |
| 11 | g.22262212T>C | CA379922657 | ANO5 | c.1264T>C (p.Cys422Arg) c.1672T>C (p.Cys558Arg) n.2708T>C c.1669T>C (p.Cys557Arg) c.1714T>C (p.Cys572Arg) n.2049T>C c.1711T>C (p.Cys571Arg) c.1636T>C (p.Cys546Arg) c.1633T>C (p.Cys545Arg) c.1621T>C (p.Cys541Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22262212T>G | CA379922658 | ANO5 | c.1264T>G (p.Cys422Gly) c.1672T>G (p.Cys558Gly) n.2708T>G c.1669T>G (p.Cys557Gly) c.1714T>G (p.Cys572Gly) n.2049T>G c.1711T>G (p.Cys571Gly) c.1636T>G (p.Cys546Gly) c.1633T>G (p.Cys545Gly) c.1621T>G (p.Cys541Gly) | |
| 11 | g.22262212T= | CA1957419842 | ANO5 | c.1264T= (p.Cys422=) c.1672T= (p.Cys558=) n.2708T= c.1669T= (p.Cys557=) c.1714T= (p.Cys572=) n.2049T= c.1711T= (p.Cys571=) c.1636T= (p.Cys546=) c.1633T= (p.Cys545=) c.1621T= (p.Cys541=) | |
| 11 | g.22262213G>A | CA379922659 | ANO5 | c.1265G>A (p.Cys422Tyr) c.1673G>A (p.Cys558Tyr) n.2709G>A c.1670G>A (p.Cys557Tyr) c.1715G>A (p.Cys572Tyr) n.2050G>A c.1712G>A (p.Cys571Tyr) c.1637G>A (p.Cys546Tyr) c.1634G>A (p.Cys545Tyr) c.1622G>A (p.Cys541Tyr) | |
| 11 | g.22262213G>C | CA379922660 | ANO5 | c.1265G>C (p.Cys422Ser) c.1673G>C (p.Cys558Ser) n.2709G>C c.1670G>C (p.Cys557Ser) c.1715G>C (p.Cys572Ser) n.2050G>C c.1712G>C (p.Cys571Ser) c.1637G>C (p.Cys546Ser) c.1634G>C (p.Cys545Ser) c.1622G>C (p.Cys541Ser) | gnomAD v4 |
| 11 | g.22262213G>T | CA379922661 | ANO5 | c.1265G>T (p.Cys422Phe) c.1673G>T (p.Cys558Phe) n.2709G>T c.1670G>T (p.Cys557Phe) c.1715G>T (p.Cys572Phe) n.2050G>T c.1712G>T (p.Cys571Phe) c.1637G>T (p.Cys546Phe) c.1634G>T (p.Cys545Phe) c.1622G>T (p.Cys541Phe) | |
| 11 | g.22262214C>A | CA5923326 | ANO5 | c.1266C>A (p.Cys422Ter) c.1674C>A (p.Cys558Ter) n.2710C>A c.1671C>A (p.Cys557Ter) c.1716C>A (p.Cys572Ter) n.2051C>A c.1713C>A (p.Cys571Ter) c.1638C>A (p.Cys546Ter) c.1635C>A (p.Cys545Ter) c.1623C>A (p.Cys541Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.22262214C= | CA1957419843 | ANO5 | c.1266C= (p.Cys422=) c.1674C= (p.Cys558=) n.2710C= c.1671C= (p.Cys557=) c.1716C= (p.Cys572=) n.2051C= c.1713C= (p.Cys571=) c.1638C= (p.Cys546=) c.1635C= (p.Cys545=) c.1623C= (p.Cys541=) | |
| 11 | g.22262214C>G | CA379922662 | ANO5 | c.1266C>G (p.Cys422Trp) c.1674C>G (p.Cys558Trp) n.2710C>G c.1671C>G (p.Cys557Trp) c.1716C>G (p.Cys572Trp) n.2051C>G c.1713C>G (p.Cys571Trp) c.1638C>G (p.Cys546Trp) c.1635C>G (p.Cys545Trp) c.1623C>G (p.Cys541Trp) | |
| 11 | g.22262214C>T | CA5923327 | ANO5 | c.1266C>T (p.Cys422=) c.1674C>T (p.Cys558=) n.2710C>T c.1671C>T (p.Cys557=) c.1716C>T (p.Cys572=) n.2051C>T c.1713C>T (p.Cys571=) c.1638C>T (p.Cys546=) c.1635C>T (p.Cys545=) c.1623C>T (p.Cys541=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22262215T>A | CA379922663 | ANO5 | c.1267T>A (p.Phe423Ile) c.1675T>A (p.Phe559Ile) n.2711T>A c.1672T>A (p.Phe558Ile) c.1717T>A (p.Phe573Ile) n.2052T>A c.1714T>A (p.Phe572Ile) c.1639T>A (p.Phe547Ile) c.1636T>A (p.Phe546Ile) c.1624T>A (p.Phe542Ile) | gnomAD v4 |
| 11 | g.22262215T>C | CA379922665 | ANO5 | c.1267T>C (p.Phe423Leu) c.1675T>C (p.Phe559Leu) n.2711T>C c.1672T>C (p.Phe558Leu) c.1717T>C (p.Phe573Leu) n.2052T>C c.1714T>C (p.Phe572Leu) c.1639T>C (p.Phe547Leu) c.1636T>C (p.Phe546Leu) c.1624T>C (p.Phe542Leu) | |
| 11 | g.22262215T>G | CA379922664 | ANO5 | c.1267T>G (p.Phe423Val) c.1675T>G (p.Phe559Val) n.2711T>G c.1672T>G (p.Phe558Val) c.1717T>G (p.Phe573Val) n.2052T>G c.1714T>G (p.Phe572Val) c.1639T>G (p.Phe547Val) c.1636T>G (p.Phe546Val) c.1624T>G (p.Phe542Val) | |
| 11 | g.22262216T>A | CA379922666 | ANO5 | c.1268T>A (p.Phe423Tyr) c.1676T>A (p.Phe559Tyr) n.2712T>A c.1673T>A (p.Phe558Tyr) c.1718T>A (p.Phe573Tyr) n.2053T>A c.1715T>A (p.Phe572Tyr) c.1640T>A (p.Phe547Tyr) c.1637T>A (p.Phe546Tyr) c.1625T>A (p.Phe542Tyr) | |
| 11 | g.22262216T>C | CA379922667 | ANO5 | c.1268T>C (p.Phe423Ser) c.1676T>C (p.Phe559Ser) n.2712T>C c.1673T>C (p.Phe558Ser) c.1718T>C (p.Phe573Ser) n.2053T>C c.1715T>C (p.Phe572Ser) c.1640T>C (p.Phe547Ser) c.1637T>C (p.Phe546Ser) c.1625T>C (p.Phe542Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22262216T>G | CA379922668 | ANO5 | c.1268T>G (p.Phe423Cys) c.1676T>G (p.Phe559Cys) n.2712T>G c.1673T>G (p.Phe558Cys) c.1718T>G (p.Phe573Cys) n.2053T>G c.1715T>G (p.Phe572Cys) c.1640T>G (p.Phe547Cys) c.1637T>G (p.Phe546Cys) c.1625T>G (p.Phe542Cys) | |
| 11 | g.22262217C>A | CA379922669 | ANO5 | c.1269C>A (p.Phe423Leu) c.1677C>A (p.Phe559Leu) n.2713C>A c.1674C>A (p.Phe558Leu) c.1719C>A (p.Phe573Leu) n.2054C>A c.1716C>A (p.Phe572Leu) c.1641C>A (p.Phe547Leu) c.1638C>A (p.Phe546Leu) c.1626C>A (p.Phe542Leu) | |
| 11 | g.22262217C>G | CA379922670 | ANO5 | c.1269C>G (p.Phe423Leu) c.1677C>G (p.Phe559Leu) n.2713C>G c.1674C>G (p.Phe558Leu) c.1719C>G (p.Phe573Leu) n.2054C>G c.1716C>G (p.Phe572Leu) c.1641C>G (p.Phe547Leu) c.1638C>G (p.Phe546Leu) c.1626C>G (p.Phe542Leu) | |
| 11 | g.22262217C>T | CA473407252 | ANO5 | c.1269C>T (p.Phe423=) c.1677C>T (p.Phe559=) n.2713C>T c.1674C>T (p.Phe558=) c.1719C>T (p.Phe573=) n.2054C>T c.1716C>T (p.Phe572=) c.1641C>T (p.Phe547=) c.1638C>T (p.Phe546=) c.1626C>T (p.Phe542=) | COSMIC |
| 11 | g.22262218T>A | CA379922671 | ANO5 | c.1270T>A (p.Tyr424Asn) c.1678T>A (p.Tyr560Asn) n.2714T>A c.1675T>A (p.Tyr559Asn) c.1720T>A (p.Tyr574Asn) n.2055T>A c.1717T>A (p.Tyr573Asn) c.1642T>A (p.Tyr548Asn) c.1639T>A (p.Tyr547Asn) c.1627T>A (p.Tyr543Asn) | |
| 11 | g.22262218T>C | CA379922672 | ANO5 | c.1270T>C (p.Tyr424His) c.1678T>C (p.Tyr560His) n.2714T>C c.1675T>C (p.Tyr559His) c.1720T>C (p.Tyr574His) n.2055T>C c.1717T>C (p.Tyr573His) c.1642T>C (p.Tyr548His) c.1639T>C (p.Tyr547His) c.1627T>C (p.Tyr543His) | |
| 11 | g.22262218T>G | CA379922673 | ANO5 | c.1270T>G (p.Tyr424Asp) c.1678T>G (p.Tyr560Asp) n.2714T>G c.1675T>G (p.Tyr559Asp) c.1720T>G (p.Tyr574Asp) n.2055T>G c.1717T>G (p.Tyr573Asp) c.1642T>G (p.Tyr548Asp) c.1639T>G (p.Tyr547Asp) c.1627T>G (p.Tyr543Asp) | |
| 11 | g.22262219A>C | CA379922674 | ANO5 | c.1271A>C (p.Tyr424Ser) c.1679A>C (p.Tyr560Ser) n.2715A>C c.1676A>C (p.Tyr559Ser) c.1721A>C (p.Tyr574Ser) n.2056A>C c.1718A>C (p.Tyr573Ser) c.1643A>C (p.Tyr548Ser) c.1640A>C (p.Tyr547Ser) c.1628A>C (p.Tyr543Ser) | |
| 11 | g.22262219A>G | CA379922675 | ANO5 | c.1271A>G (p.Tyr424Cys) c.1679A>G (p.Tyr560Cys) n.2715A>G c.1676A>G (p.Tyr559Cys) c.1721A>G (p.Tyr574Cys) n.2056A>G c.1718A>G (p.Tyr573Cys) c.1643A>G (p.Tyr548Cys) c.1640A>G (p.Tyr547Cys) c.1628A>G (p.Tyr543Cys) | ClinVar dbSNP |
| 11 | g.22262219A>T | CA379922676 | ANO5 | c.1271A>T (p.Tyr424Phe) c.1679A>T (p.Tyr560Phe) n.2715A>T c.1676A>T (p.Tyr559Phe) c.1721A>T (p.Tyr574Phe) n.2056A>T c.1718A>T (p.Tyr573Phe) c.1643A>T (p.Tyr548Phe) c.1640A>T (p.Tyr547Phe) c.1628A>T (p.Tyr543Phe) | |
| 11 | g.22262220C>A | CA379922678 | ANO5 | c.1272C>A (p.Tyr424Ter) c.1680C>A (p.Tyr560Ter) n.2716C>A c.1677C>A (p.Tyr559Ter) c.1722C>A (p.Tyr574Ter) n.2057C>A c.1719C>A (p.Tyr573Ter) c.1644C>A (p.Tyr548Ter) c.1641C>A (p.Tyr547Ter) c.1629C>A (p.Tyr543Ter) | COSMIC |
| 11 | g.22262220C= | CA1957419844 | ANO5 | c.1272C= (p.Tyr424=) c.1680C= (p.Tyr560=) n.2716C= c.1677C= (p.Tyr559=) c.1722C= (p.Tyr574=) n.2057C= c.1719C= (p.Tyr573=) c.1644C= (p.Tyr548=) c.1641C= (p.Tyr547=) c.1629C= (p.Tyr543=) | |
| 11 | g.22262220C>G | CA379922677 | ANO5 | c.1272C>G (p.Tyr424Ter) c.1680C>G (p.Tyr560Ter) n.2716C>G c.1677C>G (p.Tyr559Ter) c.1722C>G (p.Tyr574Ter) n.2057C>G c.1719C>G (p.Tyr573Ter) c.1644C>G (p.Tyr548Ter) c.1641C>G (p.Tyr547Ter) c.1629C>G (p.Tyr543Ter) | |
| 11 | g.22262220C>T | CA5923328 | ANO5 | c.1272C>T (p.Tyr424=) c.1680C>T (p.Tyr560=) n.2716C>T c.1677C>T (p.Tyr559=) c.1722C>T (p.Tyr574=) n.2057C>T c.1719C>T (p.Tyr573=) c.1644C>T (p.Tyr548=) c.1641C>T (p.Tyr547=) c.1629C>T (p.Tyr543=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |