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.73418265_73418274dup | CA645517865 | ALB | c.1606_1615dup (p.Thr539ArgfsTer7) c.1261_1270dup (p.Thr424ArgfsTer7) c.1030_1039dup (p.Thr347ArgfsTer7) c.*885_*894dup (n.*885_*894dup) n.260_269dup c.1156_1165dup (p.Thr389ArgfsTer7) n.1153_1162dup c.1139_1148dup c.967_976dup (p.Thr326ArgfsTer7) | COSMIC |
| 4 | g.73418268_73418269delinsAT | CA1468146966 | ALB | c.1609_1610delinsAT (p.Ile537=) c.1264_1265delinsAT (p.Ile422=) c.1033_1034delinsAT (p.Ile345=) c.*888_*889delinsAT (n.*888_*889delinsAT) n.263_264delinsAT c.1159_1160delinsAT (p.Ile387=) n.1156_1157delinsAT c.1142_1143delinsAT c.970_971delinsAT (p.Ile324=) | |
| 4 | g.73418269del | CA170815 | ALB | c.1610del (p.Ile537AsnfsTer21) c.1265del (p.Ile422AsnfsTer21) c.1034del (p.Ile345AsnfsTer21) c.*889del (n.*889del) n.264del c.1160del (p.Ile387AsnfsTer21) n.1157del c.1143del c.971del (p.Ile324AsnfsTer21) | ClinVar dbSNP |
| 4 | g.73418269T>A | CA357245166 | ALB | c.1610T>A (p.Ile537Lys) c.1265T>A (p.Ile422Lys) c.1034T>A (p.Ile345Lys) c.*889T>A (n.*889T>A) n.264T>A c.1160T>A (p.Ile387Lys) n.1157T>A c.1143T>A c.971T>A (p.Ile324Lys) | dbSNP |
| 4 | g.73418269T>C | CA357245167 | ALB | c.1610T>C (p.Ile537Thr) c.1265T>C (p.Ile422Thr) c.1034T>C (p.Ile345Thr) c.*889T>C (n.*889T>C) n.264T>C c.1160T>C (p.Ile387Thr) n.1157T>C c.1143T>C c.971T>C (p.Ile324Thr) | dbSNP gnomAD v4 COSMIC |
| 4 | g.73418269T>G | CA357245169 | ALB | c.1610T>G (p.Ile537Arg) c.1265T>G (p.Ile422Arg) c.1034T>G (p.Ile345Arg) c.*889T>G (n.*889T>G) n.264T>G c.1160T>G (p.Ile387Arg) n.1157T>G c.1143T>G c.971T>G (p.Ile324Arg) | |
| 4 | g.73418269T= | CA1468146972 | ALB | c.1610T= (p.Ile537=) c.1265T= (p.Ile422=) c.1034T= (p.Ile345=) c.*889T= (n.*889T=) n.264T= c.1160T= (p.Ile387=) n.1157T= c.1143T= c.971T= (p.Ile324=) | |
| 4 | g.73418270A= | CA1468146976 | ALB | c.1611A= (p.Ile537=) c.1266A= (p.Ile422=) c.1035A= (p.Ile345=) c.*890A= (n.*890A=) n.265A= c.1161A= (p.Ile387=) n.1158A= c.1144A= c.972A= (p.Ile324=) | |
| 4 | g.73418270A>C | CA439948421 | ALB | c.1611A>C (p.Ile537=) c.1266A>C (p.Ile422=) c.1035A>C (p.Ile345=) c.*890A>C (n.*890A>C) n.265A>C c.1161A>C (p.Ile387=) n.1158A>C c.1144A>C c.972A>C (p.Ile324=) | |
| 4 | g.73418270A>G | CA357245171 | ALB | c.1611A>G (p.Ile537Met) c.1266A>G (p.Ile422Met) c.1035A>G (p.Ile345Met) c.*890A>G (n.*890A>G) n.265A>G c.1161A>G (p.Ile387Met) n.1158A>G c.1144A>G c.972A>G (p.Ile324Met) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.73418270A>T | CA439948420 | ALB | c.1611A>T (p.Ile537=) c.1266A>T (p.Ile422=) c.1035A>T (p.Ile345=) c.*890A>T (n.*890A>T) n.265A>T c.1161A>T (p.Ile387=) n.1158A>T c.1144A>T c.972A>T (p.Ile324=) | dbSNP gnomAD v4 |
| 4 | g.73418271T>A | CA357245176 | ALB | c.1612T>A (p.Cys538Ser) c.1267T>A (p.Cys423Ser) c.1036T>A (p.Cys346Ser) c.*891T>A (n.*891T>A) n.266T>A c.1162T>A (p.Cys388Ser) n.1159T>A c.1145T>A c.973T>A (p.Cys325Ser) | dbSNP |
| 4 | g.73418271T>C | CA357245179 | ALB | c.1612T>C (p.Cys538Arg) c.1267T>C (p.Cys423Arg) c.1036T>C (p.Cys346Arg) c.*891T>C (n.*891T>C) n.266T>C c.1162T>C (p.Cys388Arg) n.1159T>C c.1145T>C c.973T>C (p.Cys325Arg) | |
| 4 | g.73418271T>G | CA357245182 | ALB | c.1612T>G (p.Cys538Gly) c.1267T>G (p.Cys423Gly) c.1036T>G (p.Cys346Gly) c.*891T>G (n.*891T>G) n.266T>G c.1162T>G (p.Cys388Gly) n.1159T>G c.1145T>G c.973T>G (p.Cys325Gly) | |
| 4 | g.73418272G>A | CA357245186 | ALB | c.1613G>A (p.Cys538Tyr) c.1268G>A (p.Cys423Tyr) c.1037G>A (p.Cys346Tyr) c.*892G>A (n.*892G>A) n.267G>A c.1163G>A (p.Cys388Tyr) n.1160G>A c.1146G>A c.974G>A (p.Cys325Tyr) | dbSNP gnomAD v4 |
| 4 | g.73418272G>C | CA357245190 | ALB | c.1613G>C (p.Cys538Ser) c.1268G>C (p.Cys423Ser) c.1037G>C (p.Cys346Ser) c.*892G>C (n.*892G>C) n.267G>C c.1163G>C (p.Cys388Ser) n.1160G>C c.1146G>C c.974G>C (p.Cys325Ser) | dbSNP |
| 4 | g.73418272G>T | CA357245192 | ALB | c.1613G>T (p.Cys538Phe) c.1268G>T (p.Cys423Phe) c.1037G>T (p.Cys346Phe) c.*892G>T (n.*892G>T) n.267G>T c.1163G>T (p.Cys388Phe) n.1160G>T c.1146G>T c.974G>T (p.Cys325Phe) | |
| 4 | g.73418273C>A | CA357245194 | ALB | c.1614C>A (p.Cys538Ter) c.1269C>A (p.Cys423Ter) c.1038C>A (p.Cys346Ter) c.*893C>A (n.*893C>A) n.268C>A c.1164C>A (p.Cys388Ter) n.1161C>A c.1147C>A c.975C>A (p.Cys325Ter) | |
| 4 | g.73418273C>G | CA357245195 | ALB | c.1614C>G (p.Cys538Trp) c.1269C>G (p.Cys423Trp) c.1038C>G (p.Cys346Trp) c.*893C>G (n.*893C>G) n.268C>G c.1164C>G (p.Cys388Trp) n.1161C>G c.1147C>G c.975C>G (p.Cys325Trp) | dbSNP |
| 4 | g.73418273C>T | CA439948422 | ALB | c.1614C>T (p.Cys538=) c.1269C>T (p.Cys423=) c.1038C>T (p.Cys346=) c.*893C>T (n.*893C>T) n.268C>T c.1164C>T (p.Cys388=) n.1161C>T c.1147C>T c.975C>T (p.Cys325=) | dbSNP |
| 4 | g.73418276_73418277del | CA913107473 | ALB | c.1617_1618del (p.Leu540PhefsTer2) c.1272_1273del (p.Leu425PhefsTer2) c.1041_1042del (p.Leu348PhefsTer2) c.*896_*897del (n.*896_*897del) n.271_272del c.1167_1168del (p.Leu390PhefsTer2) n.1164_1165del c.1150_1151del c.978_979del (p.Leu327PhefsTer2) | |
| 4 | g.73418274A>C | CA357245200 | ALB | c.1615A>C (p.Thr539Pro) c.1270A>C (p.Thr424Pro) c.1039A>C (p.Thr347Pro) c.*894A>C (n.*894A>C) n.269A>C c.1165A>C (p.Thr389Pro) n.1162A>C c.1148A>C c.976A>C (p.Thr326Pro) | |
| 4 | g.73418274A>G | CA357245201 | ALB | c.1615A>G (p.Thr539Ala) c.1270A>G (p.Thr424Ala) c.1039A>G (p.Thr347Ala) c.*894A>G (n.*894A>G) n.269A>G c.1165A>G (p.Thr389Ala) n.1162A>G c.1148A>G c.976A>G (p.Thr326Ala) | |
| 4 | g.73418274A>T | CA357245205 | ALB | c.1615A>T (p.Thr539Ser) c.1270A>T (p.Thr424Ser) c.1039A>T (p.Thr347Ser) c.*894A>T (n.*894A>T) n.269A>T c.1165A>T (p.Thr389Ser) n.1162A>T c.1148A>T c.976A>T (p.Thr326Ser) | dbSNP |
| 4 | g.73418275C>A | CA357245207 | ALB | c.1616C>A (p.Thr539Lys) c.1271C>A (p.Thr424Lys) c.1040C>A (p.Thr347Lys) c.*895C>A (n.*895C>A) n.270C>A c.1166C>A (p.Thr389Lys) n.1163C>A c.1149C>A c.977C>A (p.Thr326Lys) | |
| 4 | g.73418275C>G | CA357245210 | ALB | c.1616C>G (p.Thr539Arg) c.1271C>G (p.Thr424Arg) c.1040C>G (p.Thr347Arg) c.*895C>G (n.*895C>G) n.270C>G c.1166C>G (p.Thr389Arg) n.1163C>G c.1149C>G c.977C>G (p.Thr326Arg) | dbSNP gnomAD v4 |
| 4 | g.73418275C>T | CA357245213 | ALB | c.1616C>T (p.Thr539Ile) c.1271C>T (p.Thr424Ile) c.1040C>T (p.Thr347Ile) c.*895C>T (n.*895C>T) n.270C>T c.1166C>T (p.Thr389Ile) n.1163C>T c.1149C>T c.977C>T (p.Thr326Ile) | |
| 4 | g.73418275_73418279del | CA645517867 | ALB | c.1616_1620del (p.Thr539IlefsTer2) c.1271_1275del (p.Thr424IlefsTer2) c.1040_1044del (p.Thr347IlefsTer2) c.*895_*899del (n.*895_*899del) n.270_274del c.1166_1170del (p.Thr389IlefsTer2) n.1163_1167del c.1149_1153del c.977_981del (p.Thr326IlefsTer2) | COSMIC |
| 4 | g.73418276A= | CA1468146981 | ALB | c.1617A= (p.Thr539=) c.1272A= (p.Thr424=) c.1041A= (p.Thr347=) c.*896A= (n.*896A=) n.271A= c.1167A= (p.Thr389=) n.1164A= c.1150A= c.978A= (p.Thr326=) | |
| 4 | g.73418276A>C | CA439948423 | ALB | c.1617A>C (p.Thr539=) c.1272A>C (p.Thr424=) c.1041A>C (p.Thr347=) c.*896A>C (n.*896A>C) n.271A>C c.1167A>C (p.Thr389=) n.1164A>C c.1150A>C c.978A>C (p.Thr326=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.73418276A>G | CA439948425 | ALB | c.1617A>G (p.Thr539=) c.1272A>G (p.Thr424=) c.1041A>G (p.Thr347=) c.*896A>G (n.*896A>G) n.271A>G c.1167A>G (p.Thr389=) n.1164A>G c.1150A>G c.978A>G (p.Thr326=) | COSMIC |
| 4 | g.73418276A>T | CA439948424 | ALB | c.1617A>T (p.Thr539=) c.1272A>T (p.Thr424=) c.1041A>T (p.Thr347=) c.*896A>T (n.*896A>T) n.271A>T c.1167A>T (p.Thr389=) n.1164A>T c.1150A>T c.978A>T (p.Thr326=) | dbSNP |
| 4 | g.73418277C>A | CA357245216 | ALB | c.1618C>A (p.Leu540Ile) c.1273C>A (p.Leu425Ile) c.1042C>A (p.Leu348Ile) c.*897C>A (n.*897C>A) n.272C>A c.1168C>A (p.Leu390Ile) n.1165C>A c.1151C>A c.979C>A (p.Leu327Ile) | |
| 4 | g.73418277C>G | CA357245219 | ALB | c.1618C>G (p.Leu540Val) c.1273C>G (p.Leu425Val) c.1042C>G (p.Leu348Val) c.*897C>G (n.*897C>G) n.272C>G c.1168C>G (p.Leu390Val) n.1165C>G c.1151C>G c.979C>G (p.Leu327Val) | dbSNP |
| 4 | g.73418277C>T | CA357245221 | ALB | c.1618C>T (p.Leu540Phe) c.1273C>T (p.Leu425Phe) c.1042C>T (p.Leu348Phe) c.*897C>T (n.*897C>T) n.272C>T c.1168C>T (p.Leu390Phe) n.1165C>T c.1151C>T c.979C>T (p.Leu327Phe) | dbSNP gnomAD v4 |
| 4 | g.73418279_73418282del | CA645517868 | ALB | c.1620_1623del (p.Ser541ArgfsTer16) c.1275_1278del (p.Ser426ArgfsTer16) c.1044_1047del (p.Ser349ArgfsTer16) c.*899_*902del (n.*899_*902del) n.274_277del c.1170_1173del (p.Ser391ArgfsTer16) n.1167_1170del c.1153_1156del c.981_984del (p.Ser328ArgfsTer16) | COSMIC |
| 4 | g.73418278T>A | CA357245233 | ALB | c.1619T>A (p.Leu540His) c.1274T>A (p.Leu425His) c.1043T>A (p.Leu348His) c.*898T>A (n.*898T>A) n.273T>A c.1169T>A (p.Leu390His) n.1166T>A c.1152T>A c.980T>A (p.Leu327His) | gnomAD v4 COSMIC |
| 4 | g.73418278T>C | CA357245236 | ALB | c.1619T>C (p.Leu540Pro) c.1274T>C (p.Leu425Pro) c.1043T>C (p.Leu348Pro) c.*898T>C (n.*898T>C) n.273T>C c.1169T>C (p.Leu390Pro) n.1166T>C c.1152T>C c.980T>C (p.Leu327Pro) | |
| 4 | g.73418278T>G | CA357245241 | ALB | c.1619T>G (p.Leu540Arg) c.1274T>G (p.Leu425Arg) c.1043T>G (p.Leu348Arg) c.*898T>G (n.*898T>G) n.273T>G c.1169T>G (p.Leu390Arg) n.1166T>G c.1152T>G c.980T>G (p.Leu327Arg) | |
| 4 | g.73418279T>A | CA439948426 | ALB | c.1620T>A (p.Leu540=) c.1275T>A (p.Leu425=) c.1044T>A (p.Leu348=) c.*899T>A (n.*899T>A) n.274T>A c.1170T>A (p.Leu390=) n.1167T>A c.1153T>A c.981T>A (p.Leu327=) | |
| 4 | g.73418279T>C | CA439948427 | ALB | c.1620T>C (p.Leu540=) c.1275T>C (p.Leu425=) c.1044T>C (p.Leu348=) c.*899T>C (n.*899T>C) n.274T>C c.1170T>C (p.Leu390=) n.1167T>C c.1153T>C c.981T>C (p.Leu327=) | |
| 4 | g.73418279T>G | CA439948428 | ALB | c.1620T>G (p.Leu540=) c.1275T>G (p.Leu425=) c.1044T>G (p.Leu348=) c.*899T>G (n.*899T>G) n.274T>G c.1170T>G (p.Leu390=) n.1167T>G c.1153T>G c.981T>G (p.Leu327=) | |
| 4 | g.73418280T>A | CA357245256 | ALB | c.1621T>A (p.Ser541Thr) c.1276T>A (p.Ser426Thr) c.1045T>A (p.Ser349Thr) c.*900T>A (n.*900T>A) n.275T>A c.1171T>A (p.Ser391Thr) n.1168T>A c.1154T>A c.982T>A (p.Ser328Thr) | |
| 4 | g.73418280T>C | CA99710577 | ALB | c.1621T>C (p.Ser541Pro) c.1276T>C (p.Ser426Pro) c.1045T>C (p.Ser349Pro) c.*900T>C (n.*900T>C) n.275T>C c.1171T>C (p.Ser391Pro) n.1168T>C c.1154T>C c.982T>C (p.Ser328Pro) | dbSNP |
| 4 | g.73418280T>G | CA357245243 | ALB | c.1621T>G (p.Ser541Ala) c.1276T>G (p.Ser426Ala) c.1045T>G (p.Ser349Ala) c.*900T>G (n.*900T>G) n.275T>G c.1171T>G (p.Ser391Ala) n.1168T>G c.1154T>G c.982T>G (p.Ser328Ala) | |
| 4 | g.73418280T= | CA1468146985 | ALB | c.1621T= (p.Ser541=) c.1276T= (p.Ser426=) c.1045T= (p.Ser349=) c.*900T= (n.*900T=) n.275T= c.1171T= (p.Ser391=) n.1168T= c.1154T= c.982T= (p.Ser328=) | |
| 4 | g.73418281del | CA2706483599 | ALB | c.1622del (p.Ser541LeufsTer17) c.1277del (p.Ser426LeufsTer17) c.1046del (p.Ser349LeufsTer17) c.*901del (n.*901del) n.276del c.1172del (p.Ser391LeufsTer17) n.1169del c.1155del c.983del (p.Ser328LeufsTer17) | dbSNP |
| 4 | g.73418281C>A | CA357245260 | ALB | c.1622C>A (p.Ser541Tyr) c.1277C>A (p.Ser426Tyr) c.1046C>A (p.Ser349Tyr) c.*901C>A (n.*901C>A) n.276C>A c.1172C>A (p.Ser391Tyr) n.1169C>A c.1155C>A c.983C>A (p.Ser328Tyr) | COSMIC |
| 4 | g.73418281C>G | CA357245263 | ALB | c.1622C>G (p.Ser541Cys) c.1277C>G (p.Ser426Cys) c.1046C>G (p.Ser349Cys) c.*901C>G (n.*901C>G) n.276C>G c.1172C>G (p.Ser391Cys) n.1169C>G c.1155C>G c.983C>G (p.Ser328Cys) | |
| 4 | g.73418281C>T | CA357245267 | ALB | c.1622C>T (p.Ser541Phe) c.1277C>T (p.Ser426Phe) c.1046C>T (p.Ser349Phe) c.*901C>T (n.*901C>T) n.276C>T c.1172C>T (p.Ser391Phe) n.1169C>T c.1155C>T c.983C>T (p.Ser328Phe) | gnomAD v4 |