WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.73418222_73418230del | CA2706482528 | ALB | c.1563_1571del (p.Tyr521Ter) c.1218_1226del (p.Tyr406Ter) c.987_995del (p.Tyr329Ter) c.*842_*850del (n.*842_*850del) n.217_225del c.1113_1121del (p.Tyr371Ter) n.1110_1118del c.1096_1104del c.924_932del (p.Tyr308Ter) | dbSNP |
| 4 | g.73418223G>A | CA2959688 | ALB | c.1564G>A (p.Val522Ile) c.1219G>A (p.Val407Ile) c.988G>A (p.Val330Ile) c.*843G>A (n.*843G>A) n.218G>A c.1114G>A (p.Val372Ile) n.1111G>A c.1097G>A c.925G>A (p.Val309Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.73418223G>C | CA357244821 | ALB | c.1564G>C (p.Val522Leu) c.1219G>C (p.Val407Leu) c.988G>C (p.Val330Leu) c.*843G>C (n.*843G>C) n.218G>C c.1114G>C (p.Val372Leu) n.1111G>C c.1097G>C c.925G>C (p.Val309Leu) | dbSNP |
| 4 | g.73418223G= | CA1468146918 | ALB | c.1564G= (p.Val522=) c.1219G= (p.Val407=) c.988G= (p.Val330=) c.*843G= (n.*843G=) n.218G= c.1114G= (p.Val372=) n.1111G= c.1097G= c.925G= (p.Val309=) | |
| 4 | g.73418223G>T | CA357244825 | ALB | c.1564G>T (p.Val522Phe) c.1219G>T (p.Val407Phe) c.988G>T (p.Val330Phe) c.*843G>T (n.*843G>T) n.218G>T c.1114G>T (p.Val372Phe) n.1111G>T c.1097G>T c.925G>T (p.Val309Phe) | |
| 4 | g.73418224T>A | CA357244828 | ALB | c.1565T>A (p.Val522Asp) c.1220T>A (p.Val407Asp) c.989T>A (p.Val330Asp) c.*844T>A (n.*844T>A) n.219T>A c.1115T>A (p.Val372Asp) n.1112T>A c.1098T>A c.926T>A (p.Val309Asp) | dbSNP |
| 4 | g.73418224T>C | CA357244831 | ALB | c.1565T>C (p.Val522Ala) c.1220T>C (p.Val407Ala) c.989T>C (p.Val330Ala) c.*844T>C (n.*844T>C) n.219T>C c.1115T>C (p.Val372Ala) n.1112T>C c.1098T>C c.926T>C (p.Val309Ala) | |
| 4 | g.73418224T>G | CA357244834 | ALB | c.1565T>G (p.Val522Gly) c.1220T>G (p.Val407Gly) c.989T>G (p.Val330Gly) c.*844T>G (n.*844T>G) n.219T>G c.1115T>G (p.Val372Gly) n.1112T>G c.1098T>G c.926T>G (p.Val309Gly) | |
| 4 | g.73418225T>A | CA439948395 | ALB | c.1566T>A (p.Val522=) c.1221T>A (p.Val407=) c.990T>A (p.Val330=) c.*845T>A (n.*845T>A) n.220T>A c.1116T>A (p.Val372=) n.1113T>A c.1099T>A c.927T>A (p.Val309=) | |
| 4 | g.73418225T>C | CA439948396 | ALB | c.1566T>C (p.Val522=) c.1221T>C (p.Val407=) c.990T>C (p.Val330=) c.*845T>C (n.*845T>C) n.220T>C c.1116T>C (p.Val372=) n.1113T>C c.1099T>C c.927T>C (p.Val309=) | dbSNP |
| 4 | g.73418225T>G | CA439948397 | ALB | c.1566T>G (p.Val522=) c.1221T>G (p.Val407=) c.990T>G (p.Val330=) c.*845T>G (n.*845T>G) n.220T>G c.1116T>G (p.Val372=) n.1113T>G c.1099T>G c.927T>G (p.Val309=) | |
| 4 | g.73418225T= | CA1468146920 | ALB | c.1566T= (p.Val522=) c.1221T= (p.Val407=) c.990T= (p.Val330=) c.*845T= (n.*845T=) n.220T= c.1116T= (p.Val372=) n.1113T= c.1099T= c.927T= (p.Val309=) | |
| 4 | g.73418226C>A | CA357244838 | ALB | c.1567C>A (p.Pro523Thr) c.1222C>A (p.Pro408Thr) c.991C>A (p.Pro331Thr) c.*846C>A (n.*846C>A) n.221C>A c.1117C>A (p.Pro373Thr) n.1114C>A c.1100C>A c.928C>A (p.Pro310Thr) | |
| 4 | g.73418226C>G | CA357244841 | ALB | c.1567C>G (p.Pro523Ala) c.1222C>G (p.Pro408Ala) c.991C>G (p.Pro331Ala) c.*846C>G (n.*846C>G) n.221C>G c.1117C>G (p.Pro373Ala) n.1114C>G c.1100C>G c.928C>G (p.Pro310Ala) | |
| 4 | g.73418226C>T | CA357244849 | ALB | c.1567C>T (p.Pro523Ser) c.1222C>T (p.Pro408Ser) c.991C>T (p.Pro331Ser) c.*846C>T (n.*846C>T) n.221C>T c.1117C>T (p.Pro373Ser) n.1114C>T c.1100C>T c.928C>T (p.Pro310Ser) | COSMIC |
| 4 | g.73418228del | CA2706482539 | ALB | c.1569del (p.Glu525SerfsTer?) c.1224del (p.Glu410SerfsTer?) c.993del (p.Glu333SerfsTer?) c.*848del (n.*848del) n.223del c.1119del (p.Glu375SerfsTer?) n.1116del c.1102del c.930del (p.Glu312SerfsTer?) | dbSNP |
| 4 | g.73418227C>A | CA357244856 | ALB | c.1568C>A (p.Pro523His) c.1223C>A (p.Pro408His) c.992C>A (p.Pro331His) c.*847C>A (n.*847C>A) n.222C>A c.1118C>A (p.Pro373His) n.1115C>A c.1101C>A c.929C>A (p.Pro310His) | dbSNP |
| 4 | g.73418227C>G | CA357244859 | ALB | c.1568C>G (p.Pro523Arg) c.1223C>G (p.Pro408Arg) c.992C>G (p.Pro331Arg) c.*847C>G (n.*847C>G) n.222C>G c.1118C>G (p.Pro373Arg) n.1115C>G c.1101C>G c.929C>G (p.Pro310Arg) | dbSNP |
| 4 | g.73418227C>T | CA357244853 | ALB | c.1568C>T (p.Pro523Leu) c.1223C>T (p.Pro408Leu) c.992C>T (p.Pro331Leu) c.*847C>T (n.*847C>T) n.222C>T c.1118C>T (p.Pro373Leu) n.1115C>T c.1101C>T c.929C>T (p.Pro310Leu) | dbSNP gnomAD v4 |
| 4 | g.73418228C>A | CA439948398 | ALB | c.1569C>A (p.Pro523=) c.1224C>A (p.Pro408=) c.993C>A (p.Pro331=) c.*848C>A (n.*848C>A) n.223C>A c.1119C>A (p.Pro373=) n.1116C>A c.1102C>A c.930C>A (p.Pro310=) | |
| 4 | g.73418228C>G | CA439948399 | ALB | c.1569C>G (p.Pro523=) c.1224C>G (p.Pro408=) c.993C>G (p.Pro331=) c.*848C>G (n.*848C>G) n.223C>G c.1119C>G (p.Pro373=) n.1116C>G c.1102C>G c.930C>G (p.Pro310=) | dbSNP |
| 4 | g.73418228C>T | CA439948400 | ALB | c.1569C>T (p.Pro523=) c.1224C>T (p.Pro408=) c.993C>T (p.Pro331=) c.*848C>T (n.*848C>T) n.223C>T c.1119C>T (p.Pro373=) n.1116C>T c.1102C>T c.930C>T (p.Pro310=) | dbSNP |
| 4 | g.73418229A= | CA1468146922 | ALB | c.1570A= (p.Lys524=) c.1225A= (p.Lys409=) c.994A= (p.Lys332=) c.*849A= (n.*849A=) n.224A= c.1120A= (p.Lys374=) n.1117A= c.1103A= c.931A= (p.Lys311=) | |
| 4 | g.73418229A>C | CA357244863 | ALB | c.1570A>C (p.Lys524Gln) c.1225A>C (p.Lys409Gln) c.994A>C (p.Lys332Gln) c.*849A>C (n.*849A>C) n.224A>C c.1120A>C (p.Lys374Gln) n.1117A>C c.1103A>C c.931A>C (p.Lys311Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418229A>G | CA357244864 | ALB | c.1570A>G (p.Lys524Glu) c.1225A>G (p.Lys409Glu) c.994A>G (p.Lys332Glu) c.*849A>G (n.*849A>G) n.224A>G c.1120A>G (p.Lys374Glu) n.1117A>G c.1103A>G c.931A>G (p.Lys311Glu) | |
| 4 | g.73418229A>T | CA357244866 | ALB | c.1570A>T (p.Lys524Ter) c.1225A>T (p.Lys409Ter) c.994A>T (p.Lys332Ter) c.*849A>T (n.*849A>T) n.224A>T c.1120A>T (p.Lys374Ter) n.1117A>T c.1103A>T c.931A>T (p.Lys311Ter) | dbSNP |
| 4 | g.73418231del | CA2580071797 | ALB | c.1572del (p.Glu525SerfsTer?) c.1227del (p.Glu410SerfsTer?) c.996del (p.Glu333SerfsTer?) c.*851del (n.*851del) n.226del c.1122del (p.Glu375SerfsTer?) n.1119del c.1105del c.933del (p.Glu312SerfsTer?) | |
| 4 | g.73418230A>C | CA357244868 | ALB | c.1571A>C (p.Lys524Thr) c.1226A>C (p.Lys409Thr) c.995A>C (p.Lys332Thr) c.*850A>C (n.*850A>C) n.225A>C c.1121A>C (p.Lys374Thr) n.1118A>C c.1104A>C c.932A>C (p.Lys311Thr) | |
| 4 | g.73418230A>G | CA357244871 | ALB | c.1571A>G (p.Lys524Arg) c.1226A>G (p.Lys409Arg) c.995A>G (p.Lys332Arg) c.*850A>G (n.*850A>G) n.225A>G c.1121A>G (p.Lys374Arg) n.1118A>G c.1104A>G c.932A>G (p.Lys311Arg) | |
| 4 | g.73418230A>T | CA357244875 | ALB | c.1571A>T (p.Lys524Ile) c.1226A>T (p.Lys409Ile) c.995A>T (p.Lys332Ile) c.*850A>T (n.*850A>T) n.225A>T c.1121A>T (p.Lys374Ile) n.1118A>T c.1104A>T c.932A>T (p.Lys311Ile) | |
| 4 | g.73418231A= | CA1468146923 | ALB | c.1572A= (p.Lys524=) c.1227A= (p.Lys409=) c.996A= (p.Lys332=) c.*851A= (n.*851A=) n.226A= c.1122A= (p.Lys374=) n.1119A= c.1105A= c.933A= (p.Lys311=) | |
| 4 | g.73418231A>C | CA357244879 | ALB | c.1572A>C (p.Lys524Asn) c.1227A>C (p.Lys409Asn) c.996A>C (p.Lys332Asn) c.*851A>C (n.*851A>C) n.226A>C c.1122A>C (p.Lys374Asn) n.1119A>C c.1105A>C c.933A>C (p.Lys311Asn) | |
| 4 | g.73418231A>G | CA439948401 | ALB | c.1572A>G (p.Lys524=) c.1227A>G (p.Lys409=) c.996A>G (p.Lys332=) c.*851A>G (n.*851A>G) n.226A>G c.1122A>G (p.Lys374=) n.1119A>G c.1105A>G c.933A>G (p.Lys311=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418231A>T | CA357244881 | ALB | c.1572A>T (p.Lys524Asn) c.1227A>T (p.Lys409Asn) c.996A>T (p.Lys332Asn) c.*851A>T (n.*851A>T) n.226A>T c.1122A>T (p.Lys374Asn) n.1119A>T c.1105A>T c.933A>T (p.Lys311Asn) | dbSNP |
| 4 | g.73418232G>A | CA127912 | ALB | c.1573G>A (p.Glu525Lys) c.1228G>A (p.Glu410Lys) c.997G>A (p.Glu333Lys) c.*852G>A (n.*852G>A) n.227G>A c.1123G>A (p.Glu375Lys) n.1120G>A c.1106G>A c.934G>A (p.Glu312Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418232G>C | CA357244886 | ALB | c.1573G>C (p.Glu525Gln) c.1228G>C (p.Glu410Gln) c.997G>C (p.Glu333Gln) c.*852G>C (n.*852G>C) n.227G>C c.1123G>C (p.Glu375Gln) n.1120G>C c.1106G>C c.934G>C (p.Glu312Gln) | dbSNP gnomAD v4 |
| 4 | g.73418232G= | CA1468146924 | ALB | c.1573G= (p.Glu525=) c.1228G= (p.Glu410=) c.997G= (p.Glu333=) c.*852G= (n.*852G=) n.227G= c.1123G= (p.Glu375=) n.1120G= c.1106G= c.934G= (p.Glu312=) | |
| 4 | g.73418232G>T | CA357244890 | ALB | c.1573G>T (p.Glu525Ter) c.1228G>T (p.Glu410Ter) c.997G>T (p.Glu333Ter) c.*852G>T (n.*852G>T) n.227G>T c.1123G>T (p.Glu375Ter) n.1120G>T c.1106G>T c.934G>T (p.Glu312Ter) | |
| 4 | g.73418233A>C | CA357244893 | ALB | c.1574A>C (p.Glu525Ala) c.1229A>C (p.Glu410Ala) c.998A>C (p.Glu333Ala) c.*853A>C (n.*853A>C) n.228A>C c.1124A>C (p.Glu375Ala) n.1121A>C c.1107A>C c.935A>C (p.Glu312Ala) | |
| 4 | g.73418233A>G | CA357244895 | ALB | c.1574A>G (p.Glu525Gly) c.1229A>G (p.Glu410Gly) c.998A>G (p.Glu333Gly) c.*853A>G (n.*853A>G) n.228A>G c.1124A>G (p.Glu375Gly) n.1121A>G c.1107A>G c.935A>G (p.Glu312Gly) | |
| 4 | g.73418233A>T | CA357244896 | ALB | c.1574A>T (p.Glu525Val) c.1229A>T (p.Glu410Val) c.998A>T (p.Glu333Val) c.*853A>T (n.*853A>T) n.228A>T c.1124A>T (p.Glu375Val) n.1121A>T c.1107A>T c.935A>T (p.Glu312Val) | dbSNP |
| 4 | g.73418234G>A | CA439948402 | ALB | c.1575G>A (p.Glu525=) c.1230G>A (p.Glu410=) c.999G>A (p.Glu333=) c.*854G>A (n.*854G>A) n.229G>A c.1125G>A (p.Glu375=) n.1122G>A c.1108G>A c.936G>A (p.Glu312=) | dbSNP |
| 4 | g.73418234G>C | CA357244899 | ALB | c.1575G>C (p.Glu525Asp) c.1230G>C (p.Glu410Asp) c.999G>C (p.Glu333Asp) c.*854G>C (n.*854G>C) n.229G>C c.1125G>C (p.Glu375Asp) n.1122G>C c.1108G>C c.936G>C (p.Glu312Asp) | |
| 4 | g.73418234G= | CA1468146925 | ALB | c.1575G= (p.Glu525=) c.1230G= (p.Glu410=) c.999G= (p.Glu333=) c.*854G= (n.*854G=) n.229G= c.1125G= (p.Glu375=) n.1122G= c.1108G= c.936G= (p.Glu312=) | |
| 4 | g.73418234G>T | CA357244903 | ALB | c.1575G>T (p.Glu525Asp) c.1230G>T (p.Glu410Asp) c.999G>T (p.Glu333Asp) c.*854G>T (n.*854G>T) n.229G>T c.1125G>T (p.Glu375Asp) n.1122G>T c.1108G>T c.936G>T (p.Glu312Asp) | |
| 4 | g.73418235T>A | CA357244906 | ALB | c.1576T>A (p.Phe526Ile) c.1231T>A (p.Phe411Ile) c.1000T>A (p.Phe334Ile) c.*855T>A (n.*855T>A) n.230T>A c.1126T>A (p.Phe376Ile) n.1123T>A c.1109T>A c.937T>A (p.Phe313Ile) | dbSNP |
| 4 | g.73418235T>C | CA357244911 | ALB | c.1576T>C (p.Phe526Leu) c.1231T>C (p.Phe411Leu) c.1000T>C (p.Phe334Leu) c.*855T>C (n.*855T>C) n.230T>C c.1126T>C (p.Phe376Leu) n.1123T>C c.1109T>C c.937T>C (p.Phe313Leu) | |
| 4 | g.73418235T>G | CA357244908 | ALB | c.1576T>G (p.Phe526Val) c.1231T>G (p.Phe411Val) c.1000T>G (p.Phe334Val) c.*855T>G (n.*855T>G) n.230T>G c.1126T>G (p.Phe376Val) n.1123T>G c.1109T>G c.937T>G (p.Phe313Val) | |
| 4 | g.73418237del | CA645517864 | ALB | c.1578del (p.Phe526LeufsTer?) c.1233del (p.Phe411LeufsTer?) c.1002del (p.Phe334LeufsTer?) c.*857del (n.*857del) n.232del c.1128del (p.Phe376LeufsTer?) n.1125del c.1111del c.939del (p.Phe313LeufsTer?) | COSMIC |
| 4 | g.73418236T>A | CA357244914 | ALB | c.1577T>A (p.Phe526Tyr) c.1232T>A (p.Phe411Tyr) c.1001T>A (p.Phe334Tyr) c.*856T>A (n.*856T>A) n.231T>A c.1127T>A (p.Phe376Tyr) n.1124T>A c.1110T>A c.938T>A (p.Phe313Tyr) | dbSNP |