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.23354972_23354978delinsAGTTGCA | CA2695217759 | SACS | c.1634_1640delinsTGCAACT (p.Trp545_Pro547delinsLeuGlnLeu) n.1772_1778delinsTGCAACT c.1625_1631delinsTGCAACT (p.Trp542_Pro544delinsLeuGlnLeu) n.3991_3997delinsTGCAACT c.-617_-611delinsTGCAACT (n.-617_-611delinsTGCAACT) c.506_512delinsTGCAACT (p.Trp169_Pro171delinsLeuGlnLeu) c.1332_1338delinsTGCAACT c.1193_1199delinsTGCAACT (p.Trp398_Pro400delinsLeuGlnLeu) c.1658_1664delinsTGCAACT (p.Trp553_Pro555delinsLeuGlnLeu) | |
| 13 | g.23354978_23354983del | CA2622331277 | SACS | c.1632_1637del (p.His544_Trp545del) n.1770_1775del c.1623_1628del (p.His541_Trp542del) n.3989_3994del c.-619_-614del (n.-619_-614del) c.504_509del (p.His168_Trp169del) c.1330_1335del c.1191_1196del (p.His397_Trp398del) c.1656_1661del (p.His552_Trp553del) | gnomAD v4 |
| 13 | g.23354977C>A | CA387547455 | SACS | c.1635G>T (p.Trp545Cys) n.1773G>T c.1626G>T (p.Trp542Cys) n.3992G>T c.-616G>T (n.-616G>T) c.507G>T (p.Trp169Cys) c.1333G>T c.1194G>T (p.Trp398Cys) c.1659G>T (p.Trp553Cys) | |
| 13 | g.23354977C>G | CA387547457 | SACS | c.1635G>C (p.Trp545Cys) n.1773G>C c.1626G>C (p.Trp542Cys) n.3992G>C c.-616G>C (n.-616G>C) c.507G>C (p.Trp169Cys) c.1333G>C c.1194G>C (p.Trp398Cys) c.1659G>C (p.Trp553Cys) | |
| 13 | g.23354977C>T | CA387547459 | SACS | c.1635G>A (p.Trp545Ter) n.1773G>A c.1626G>A (p.Trp542Ter) n.3992G>A c.-616G>A (n.-616G>A) c.507G>A (p.Trp169Ter) c.1333G>A c.1194G>A (p.Trp398Ter) c.1659G>A (p.Trp553Ter) | |
| 13 | g.23354978C>A | CA387547461 | SACS | c.1634G>T (p.Trp545Leu) n.1772G>T c.1625G>T (p.Trp542Leu) n.3991G>T c.-617G>T (n.-617G>T) c.506G>T (p.Trp169Leu) c.1332G>T c.1193G>T (p.Trp398Leu) c.1658G>T (p.Trp553Leu) | dbSNP |
| 13 | g.23354978C= | CA2078658087 | SACS | c.1634G= (p.Trp545=) n.1772G= c.1625G= (p.Trp542=) n.3991G= c.-617G= (n.-617G=) c.506G= (p.Trp169=) c.1332G= c.1193G= (p.Trp398=) c.1658G= (p.Trp553=) | |
| 13 | g.23354978C>G | CA387547463 | SACS | c.1634G>C (p.Trp545Ser) n.1772G>C c.1625G>C (p.Trp542Ser) n.3991G>C c.-617G>C (n.-617G>C) c.506G>C (p.Trp169Ser) c.1332G>C c.1193G>C (p.Trp398Ser) c.1658G>C (p.Trp553Ser) | |
| 13 | g.23354978C>T | CA387547465 | SACS | c.1634G>A (p.Trp545Ter) n.1772G>A c.1625G>A (p.Trp542Ter) n.3991G>A c.-617G>A (n.-617G>A) c.506G>A (p.Trp169Ter) c.1332G>A c.1193G>A (p.Trp398Ter) c.1658G>A (p.Trp553Ter) | |
| 13 | g.23354979A>C | CA387547469 | SACS | c.1633T>G (p.Trp545Gly) n.1771T>G c.1624T>G (p.Trp542Gly) n.3990T>G c.-618T>G (n.-618T>G) c.505T>G (p.Trp169Gly) c.1331T>G c.1192T>G (p.Trp398Gly) c.1657T>G (p.Trp553Gly) | |
| 13 | g.23354979A>G | CA387547470 | SACS | c.1633T>C (p.Trp545Arg) n.1771T>C c.1624T>C (p.Trp542Arg) n.3990T>C c.-618T>C (n.-618T>C) c.505T>C (p.Trp169Arg) c.1331T>C c.1192T>C (p.Trp398Arg) c.1657T>C (p.Trp553Arg) | |
| 13 | g.23354979A>T | CA387547471 | SACS | c.1633T>A (p.Trp545Arg) n.1771T>A c.1624T>A (p.Trp542Arg) n.3990T>A c.-618T>A (n.-618T>A) c.505T>A (p.Trp169Arg) c.1331T>A c.1192T>A (p.Trp398Arg) c.1657T>A (p.Trp553Arg) | |
| 13 | g.23354980G>A | CA483164047 | SACS | c.1632C>T (p.His544=) n.1770C>T c.1623C>T (p.His541=) n.3989C>T c.-619C>T (n.-619C>T) c.504C>T (p.His168=) c.1330C>T c.1191C>T (p.His397=) c.1656C>T (p.His552=) | |
| 13 | g.23354980G>C | CA387547475 | SACS | c.1632C>G (p.His544Gln) n.1770C>G c.1623C>G (p.His541Gln) n.3989C>G c.-619C>G (n.-619C>G) c.504C>G (p.His168Gln) c.1330C>G c.1191C>G (p.His397Gln) c.1656C>G (p.His552Gln) | |
| 13 | g.23354980G>T | CA387547473 | SACS | c.1632C>A (p.His544Gln) n.1770C>A c.1623C>A (p.His541Gln) n.3989C>A c.-619C>A (n.-619C>A) c.504C>A (p.His168Gln) c.1330C>A c.1191C>A (p.His397Gln) c.1656C>A (p.His552Gln) | |
| 13 | g.23354981T>A | CA387547477 | SACS | c.1631A>T (p.His544Leu) n.1769A>T c.1622A>T (p.His541Leu) n.3988A>T c.-620A>T (n.-620A>T) c.503A>T (p.His168Leu) c.1329A>T c.1190A>T (p.His397Leu) c.1655A>T (p.His552Leu) | |
| 13 | g.23354981T>C | CA6911881 | SACS | c.1631A>G (p.His544Arg) n.1769A>G c.1622A>G (p.His541Arg) n.3988A>G c.-620A>G (n.-620A>G) c.503A>G (p.His168Arg) c.1329A>G c.1190A>G (p.His397Arg) c.1655A>G (p.His552Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23354981T>G | CA387547479 | SACS | c.1631A>C (p.His544Pro) n.1769A>C c.1622A>C (p.His541Pro) n.3988A>C c.-620A>C (n.-620A>C) c.503A>C (p.His168Pro) c.1329A>C c.1190A>C (p.His397Pro) c.1655A>C (p.His552Pro) | |
| 13 | g.23354981T= | CA2078658090 | SACS | c.1631A= (p.His544=) n.1769A= c.1622A= (p.His541=) n.3988A= c.-620A= (n.-620A=) c.503A= (p.His168=) c.1329A= c.1190A= (p.His397=) c.1655A= (p.His552=) | |
| 13 | g.23354982G>A | CA387547482 | SACS | c.1630C>T (p.His544Tyr) n.1768C>T c.1621C>T (p.His541Tyr) n.3987C>T c.-621C>T (n.-621C>T) c.502C>T (p.His168Tyr) c.1328C>T c.1189C>T (p.His397Tyr) c.1654C>T (p.His552Tyr) | |
| 13 | g.23354982G>C | CA387547484 | SACS | c.1630C>G (p.His544Asp) n.1768C>G c.1621C>G (p.His541Asp) n.3987C>G c.-621C>G (n.-621C>G) c.502C>G (p.His168Asp) c.1328C>G c.1189C>G (p.His397Asp) c.1654C>G (p.His552Asp) | |
| 13 | g.23354982G>T | CA387547486 | SACS | c.1630C>A (p.His544Asn) n.1768C>A c.1621C>A (p.His541Asn) n.3987C>A c.-621C>A (n.-621C>A) c.502C>A (p.His168Asn) c.1328C>A c.1189C>A (p.His397Asn) c.1654C>A (p.His552Asn) | |
| 13 | g.23354983C>A | CA483164048 | SACS | c.1629G>T (p.Val543=) n.1767G>T c.1620G>T (p.Val540=) n.3986G>T c.-622G>T (n.-622G>T) c.501G>T (p.Val167=) c.1327G>T c.1188G>T (p.Val396=) c.1653G>T (p.Val551=) | |
| 13 | g.23354983C>G | CA483164049 | SACS | c.1629G>C (p.Val543=) n.1767G>C c.1620G>C (p.Val540=) n.3986G>C c.-622G>C (n.-622G>C) c.501G>C (p.Val167=) c.1327G>C c.1188G>C (p.Val396=) c.1653G>C (p.Val551=) | |
| 13 | g.23354983C>T | CA483164050 | SACS | c.1629G>A (p.Val543=) n.1767G>A c.1620G>A (p.Val540=) n.3986G>A c.-622G>A (n.-622G>A) c.501G>A (p.Val167=) c.1327G>A c.1188G>A (p.Val396=) c.1653G>A (p.Val551=) | |
| 13 | g.23354984A>C | CA387547489 | SACS | c.1628T>G (p.Val543Gly) n.1766T>G c.1619T>G (p.Val540Gly) n.3985T>G c.-623T>G (n.-623T>G) c.500T>G (p.Val167Gly) c.1326T>G c.1187T>G (p.Val396Gly) c.1652T>G (p.Val551Gly) | |
| 13 | g.23354984A>G | CA387547495 | SACS | c.1628T>C (p.Val543Ala) n.1766T>C c.1619T>C (p.Val540Ala) n.3985T>C c.-623T>C (n.-623T>C) c.500T>C (p.Val167Ala) c.1326T>C c.1187T>C (p.Val396Ala) c.1652T>C (p.Val551Ala) | |
| 13 | g.23354984A>T | CA387547497 | SACS | c.1628T>A (p.Val543Glu) n.1766T>A c.1619T>A (p.Val540Glu) n.3985T>A c.-623T>A (n.-623T>A) c.500T>A (p.Val167Glu) c.1326T>A c.1187T>A (p.Val396Glu) c.1652T>A (p.Val551Glu) | |
| 13 | g.23354984_23354985delinsAC | CA2078658092 | SACS | c.1627_1628delinsGT (p.Val543=) n.1765_1766delinsGT c.1618_1619delinsGT (p.Val540=) n.3984_3985delinsGT c.-624_-623delinsGT (n.-624_-623delinsGT) c.499_500delinsGT (p.Val167=) c.1325_1326delinsGT c.1186_1187delinsGT (p.Val396=) c.1651_1652delinsGT (p.Val551=) | |
| 13 | g.23354985C>A | CA387547500 | SACS | c.1627G>T (p.Val543Leu) n.1765G>T c.1618G>T (p.Val540Leu) n.3984G>T c.-624G>T (n.-624G>T) c.499G>T (p.Val167Leu) c.1325G>T c.1186G>T (p.Val396Leu) c.1651G>T (p.Val551Leu) | |
| 13 | g.23354985C= | CA2078658097 | SACS | c.1627G= (p.Val543=) n.1765G= c.1618G= (p.Val540=) n.3984G= c.-624G= (n.-624G=) c.499G= (p.Val167=) c.1325G= c.1186G= (p.Val396=) c.1651G= (p.Val551=) | |
| 13 | g.23354985C>G | CA387547501 | SACS | c.1627G>C (p.Val543Leu) n.1765G>C c.1618G>C (p.Val540Leu) n.3984G>C c.-624G>C (n.-624G>C) c.499G>C (p.Val167Leu) c.1325G>C c.1186G>C (p.Val396Leu) c.1651G>C (p.Val551Leu) | |
| 13 | g.23354985C>T | CA6911882 | SACS | c.1627G>A (p.Val543Met) n.1765G>A c.1618G>A (p.Val540Met) n.3984G>A c.-624G>A (n.-624G>A) c.499G>A (p.Val167Met) c.1325G>A c.1186G>A (p.Val396Met) c.1651G>A (p.Val551Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23354986del | CA2078658096 | SACS | c.1627del (p.Val543CysfsTer7) n.1765del c.1618del (p.Val540CysfsTer7) n.3984del c.-624del (n.-624del) c.499del (p.Val167CysfsTer7) c.1325del c.1186del (p.Val396CysfsTer7) c.1651del (p.Val551CysfsTer7) | ClinVar dbSNP |
| 13 | g.23354986C>A | CA387547505 | SACS | c.1626G>T (p.Lys542Asn) n.1764G>T c.1617G>T (p.Lys539Asn) n.3983G>T c.-625G>T (n.-625G>T) c.498G>T (p.Lys166Asn) c.1324G>T c.1185G>T (p.Lys395Asn) c.1650G>T (p.Lys550Asn) | |
| 13 | g.23354986C>G | CA387547506 | SACS | c.1626G>C (p.Lys542Asn) n.1764G>C c.1617G>C (p.Lys539Asn) n.3983G>C c.-625G>C (n.-625G>C) c.498G>C (p.Lys166Asn) c.1324G>C c.1185G>C (p.Lys395Asn) c.1650G>C (p.Lys550Asn) | |
| 13 | g.23354986C>T | CA483164051 | SACS | c.1626G>A (p.Lys542=) n.1764G>A c.1617G>A (p.Lys539=) n.3983G>A c.-625G>A (n.-625G>A) c.498G>A (p.Lys166=) c.1324G>A c.1185G>A (p.Lys395=) c.1650G>A (p.Lys550=) | |
| 13 | g.23354987T>A | CA387547513 | SACS | c.1625A>T (p.Lys542Met) n.1763A>T c.1616A>T (p.Lys539Met) n.3982A>T c.-626A>T (n.-626A>T) c.497A>T (p.Lys166Met) c.1323A>T c.1184A>T (p.Lys395Met) c.1649A>T (p.Lys550Met) | |
| 13 | g.23354987T>C | CA387547511 | SACS | c.1625A>G (p.Lys542Arg) n.1763A>G c.1616A>G (p.Lys539Arg) n.3982A>G c.-626A>G (n.-626A>G) c.497A>G (p.Lys166Arg) c.1323A>G c.1184A>G (p.Lys395Arg) c.1649A>G (p.Lys550Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23354987T>G | CA387547509 | SACS | c.1625A>C (p.Lys542Thr) n.1763A>C c.1616A>C (p.Lys539Thr) n.3982A>C c.-626A>C (n.-626A>C) c.497A>C (p.Lys166Thr) c.1323A>C c.1184A>C (p.Lys395Thr) c.1649A>C (p.Lys550Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23354987T= | CA2078658100 | SACS | c.1625A= (p.Lys542=) n.1763A= c.1616A= (p.Lys539=) n.3982A= c.-626A= (n.-626A=) c.497A= (p.Lys166=) c.1323A= c.1184A= (p.Lys395=) c.1649A= (p.Lys550=) | |
| 13 | g.23354988T>A | CA387547515 | SACS | c.1624A>T (p.Lys542Ter) n.1762A>T c.1615A>T (p.Lys539Ter) n.3981A>T c.-627A>T (n.-627A>T) c.496A>T (p.Lys166Ter) c.1322A>T c.1183A>T (p.Lys395Ter) c.1648A>T (p.Lys550Ter) | |
| 13 | g.23354988T>C | CA387547517 | SACS | c.1624A>G (p.Lys542Glu) n.1762A>G c.1615A>G (p.Lys539Glu) n.3981A>G c.-627A>G (n.-627A>G) c.496A>G (p.Lys166Glu) c.1322A>G c.1183A>G (p.Lys395Glu) c.1648A>G (p.Lys550Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23354988T>G | CA387547519 | SACS | c.1624A>C (p.Lys542Gln) n.1762A>C c.1615A>C (p.Lys539Gln) n.3981A>C c.-627A>C (n.-627A>C) c.496A>C (p.Lys166Gln) c.1322A>C c.1183A>C (p.Lys395Gln) c.1648A>C (p.Lys550Gln) | |
| 13 | g.23354988T= | CA2078658104 | SACS | c.1624A= (p.Lys542=) n.1762A= c.1615A= (p.Lys539=) n.3981A= c.-627A= (n.-627A=) c.496A= (p.Lys166=) c.1322A= c.1183A= (p.Lys395=) c.1648A= (p.Lys550=) | |
| 13 | g.23354989G>A | CA483164052 | SACS | c.1623C>T (p.Val541=) n.1761C>T c.1614C>T (p.Val538=) n.3980C>T c.-628C>T (n.-628C>T) c.495C>T (p.Val165=) c.1321C>T c.1182C>T (p.Val394=) c.1647C>T (p.Val549=) | |
| 13 | g.23354989G>C | CA483164053 | SACS | c.1623C>G (p.Val541=) n.1761C>G c.1614C>G (p.Val538=) n.3980C>G c.-628C>G (n.-628C>G) c.495C>G (p.Val165=) c.1321C>G c.1182C>G (p.Val394=) c.1647C>G (p.Val549=) | |
| 13 | g.23354989G>T | CA483164054 | SACS | c.1623C>A (p.Val541=) n.1761C>A c.1614C>A (p.Val538=) n.3980C>A c.-628C>A (n.-628C>A) c.495C>A (p.Val165=) c.1321C>A c.1182C>A (p.Val394=) c.1647C>A (p.Val549=) | |
| 13 | g.23354990A>C | CA387547521 | SACS | c.1622T>G (p.Val541Gly) n.1760T>G c.1613T>G (p.Val538Gly) n.3979T>G c.-629T>G (n.-629T>G) c.494T>G (p.Val165Gly) c.1320T>G c.1181T>G (p.Val394Gly) c.1646T>G (p.Val549Gly) | |
| 13 | g.23354990A>G | CA387547523 | SACS | c.1622T>C (p.Val541Ala) n.1760T>C c.1613T>C (p.Val538Ala) n.3979T>C c.-629T>C (n.-629T>C) c.494T>C (p.Val165Ala) c.1320T>C c.1181T>C (p.Val394Ala) c.1646T>C (p.Val549Ala) |