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 |
|---|---|---|---|---|---|
| 7 | g.107919063_107919067del | CA913111803 | DLD | c.1428_1432del (p.Cys477ArgfsTer4) c.*1102_*1106del (n.*1102_*1106del) c.1284_1288del (p.Cys429ArgfsTer4) c.1359_1363del (p.Cys454ArgfsTer4) c.1131_1135del (p.Cys378ArgfsTer4) | |
| 7 | g.107919063_107919067delinsCTGTG | CA1732860735 | DLD | c.1428_1432delinsCTGTG (p.Ser476=) c.*1102_*1106delinsCTGTG (n.*1102_*1106delinsCTGTG) c.1284_1288delinsCTGTG (p.Ser428=) c.1359_1363delinsCTGTG (p.Ser453=) c.1131_1135delinsCTGTG (p.Ser377=) | |
| 7 | g.107919064_107919067del | CA658821777 | DLD | c.1429_1432del (p.Cys477LysfsTer3) c.*1103_*1106del (n.*1103_*1106del) c.1285_1288del (p.Cys429LysfsTer3) c.1360_1363del (p.Cys454LysfsTer3) c.1132_1135del (p.Cys378LysfsTer3) | ClinVar dbSNP |
| 7 | g.107919066_107919067del | CA2559541351 | DLD | c.1431_1432del (p.Cys477Ter) c.*1105_*1106del (n.*1105_*1106del) c.1287_1288del (p.Cys429Ter) c.1362_1363del (p.Cys454Ter) c.1134_1135del (p.Cys378Ter) | |
| 7 | g.107919067G>A | CA368859496 | DLD | c.1432G>A (p.Glu478Lys) c.*1106G>A (n.*1106G>A) c.1288G>A (p.Glu430Lys) c.1363G>A (p.Glu455Lys) c.1135G>A (p.Glu379Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919067G>C | CA368859497 | DLD | c.1432G>C (p.Glu478Gln) c.*1106G>C (n.*1106G>C) c.1288G>C (p.Glu430Gln) c.1363G>C (p.Glu455Gln) c.1135G>C (p.Glu379Gln) | |
| 7 | g.107919067G= | CA1732860738 | DLD | c.1432G= (p.Glu478=) c.*1106G= (n.*1106G=) c.1288G= (p.Glu430=) c.1363G= (p.Glu455=) c.1135G= (p.Glu379=) | |
| 7 | g.107919067G>T | CA368859498 | DLD | c.1432G>T (p.Glu478Ter) c.*1106G>T (n.*1106G>T) c.1288G>T (p.Glu430Ter) c.1363G>T (p.Glu455Ter) c.1135G>T (p.Glu379Ter) | |
| 7 | g.107919068A= | CA1732860739 | DLD | c.1433A= (p.Glu478=) c.*1107A= (n.*1107A=) c.1289A= (p.Glu430=) c.1364A= (p.Glu455=) c.1136A= (p.Glu379=) | |
| 7 | g.107919068A>C | CA368859499 | DLD | c.1433A>C (p.Glu478Ala) c.*1107A>C (n.*1107A>C) c.1289A>C (p.Glu430Ala) c.1364A>C (p.Glu455Ala) c.1136A>C (p.Glu379Ala) | |
| 7 | g.107919068A>G | CA4434706 | DLD | c.1433A>G (p.Glu478Gly) c.*1107A>G (n.*1107A>G) c.1289A>G (p.Glu430Gly) c.1364A>G (p.Glu455Gly) c.1136A>G (p.Glu379Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919068A>T | CA368859500 | DLD | c.1433A>T (p.Glu478Val) c.*1107A>T (n.*1107A>T) c.1289A>T (p.Glu430Val) c.1364A>T (p.Glu455Val) c.1136A>T (p.Glu379Val) | |
| 7 | g.107919069A>C | CA368859501 | DLD | c.1434A>C (p.Glu478Asp) c.*1108A>C (n.*1108A>C) c.1290A>C (p.Glu430Asp) c.1365A>C (p.Glu455Asp) c.1137A>C (p.Glu379Asp) | |
| 7 | g.107919069A>G | CA457109815 | DLD | c.1434A>G (p.Glu478=) c.*1108A>G (n.*1108A>G) c.1290A>G (p.Glu430=) c.1365A>G (p.Glu455=) c.1137A>G (p.Glu379=) | |
| 7 | g.107919069A>T | CA368859502 | DLD | c.1434A>T (p.Glu478Asp) c.*1108A>T (n.*1108A>T) c.1290A>T (p.Glu430Asp) c.1365A>T (p.Glu455Asp) c.1137A>T (p.Glu379Asp) | |
| 7 | g.107919070G>A | CA368859503 | DLD | c.1435G>A (p.Asp479Asn) c.*1109G>A (n.*1109G>A) c.1291G>A (p.Asp431Asn) c.1366G>A (p.Asp456Asn) c.1138G>A (p.Asp380Asn) | |
| 7 | g.107919070G>C | CA368859504 | DLD | c.1435G>C (p.Asp479His) c.*1109G>C (n.*1109G>C) c.1291G>C (p.Asp431His) c.1366G>C (p.Asp456His) c.1138G>C (p.Asp380His) | |
| 7 | g.107919070G>T | CA368859505 | DLD | c.1435G>T (p.Asp479Tyr) c.*1109G>T (n.*1109G>T) c.1291G>T (p.Asp431Tyr) c.1366G>T (p.Asp456Tyr) c.1138G>T (p.Asp380Tyr) | |
| 7 | g.107919071A= | CA1732860740 | DLD | c.1436A= (p.Asp479=) c.*1110A= (n.*1110A=) c.1292A= (p.Asp431=) c.1367A= (p.Asp456=) c.1139A= (p.Asp380=) | |
| 7 | g.107919071A>C | CA368859507 | DLD | c.1436A>C (p.Asp479Ala) c.*1110A>C (n.*1110A>C) c.1292A>C (p.Asp431Ala) c.1367A>C (p.Asp456Ala) c.1139A>C (p.Asp380Ala) | |
| 7 | g.107919071A>G | CA368859506 | DLD | c.1436A>G (p.Asp479Gly) c.*1110A>G (n.*1110A>G) c.1292A>G (p.Asp431Gly) c.1367A>G (p.Asp456Gly) c.1139A>G (p.Asp380Gly) | gnomAD v4 |
| 7 | g.107919071A>T | CA261256 | DLD | c.1436A>T (p.Asp479Val) c.*1110A>T (n.*1110A>T) c.1292A>T (p.Asp431Val) c.1367A>T (p.Asp456Val) c.1139A>T (p.Asp380Val) | ClinVar dbSNP |
| 7 | g.107919072T>A | CA368859508 | DLD | c.1437T>A (p.Asp479Glu) c.*1111T>A (n.*1111T>A) c.1293T>A (p.Asp431Glu) c.1368T>A (p.Asp456Glu) c.1140T>A (p.Asp380Glu) | |
| 7 | g.107919072T>C | CA457109816 | DLD | c.1437T>C (p.Asp479=) c.*1111T>C (n.*1111T>C) c.1293T>C (p.Asp431=) c.1368T>C (p.Asp456=) c.1140T>C (p.Asp380=) | ClinVar gnomAD v4 |
| 7 | g.107919072T>G | CA368859509 | DLD | c.1437T>G (p.Asp479Glu) c.*1111T>G (n.*1111T>G) c.1293T>G (p.Asp431Glu) c.1368T>G (p.Asp456Glu) c.1140T>G (p.Asp380Glu) | |
| 7 | g.107919073A= | CA1732860741 | DLD | c.1438A= (p.Ile480=) c.*1112A= (n.*1112A=) c.1294A= (p.Ile432=) c.1369A= (p.Ile457=) c.1141A= (p.Ile381=) | |
| 7 | g.107919073A>C | CA368859510 | DLD | c.1438A>C (p.Ile480Leu) c.*1112A>C (n.*1112A>C) c.1294A>C (p.Ile432Leu) c.1369A>C (p.Ile457Leu) c.1141A>C (p.Ile381Leu) | |
| 7 | g.107919073A>G | CA4434707 | DLD | c.1438A>G (p.Ile480Val) c.*1112A>G (n.*1112A>G) c.1294A>G (p.Ile432Val) c.1369A>G (p.Ile457Val) c.1141A>G (p.Ile381Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919073A>T | CA368859511 | DLD | c.1438A>T (p.Ile480Leu) c.*1112A>T (n.*1112A>T) c.1294A>T (p.Ile432Leu) c.1369A>T (p.Ile457Leu) c.1141A>T (p.Ile381Leu) | gnomAD v4 |
| 7 | g.107919074T>A | CA368859512 | DLD | c.1439T>A (p.Ile480Lys) c.*1113T>A (n.*1113T>A) c.1295T>A (p.Ile432Lys) c.1370T>A (p.Ile457Lys) c.1142T>A (p.Ile381Lys) | |
| 7 | g.107919074T>C | CA4434708 | DLD | c.1439T>C (p.Ile480Thr) c.*1113T>C (n.*1113T>C) c.1295T>C (p.Ile432Thr) c.1370T>C (p.Ile457Thr) c.1142T>C (p.Ile381Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.107919074T>G | CA368859513 | DLD | c.1439T>G (p.Ile480Arg) c.*1113T>G (n.*1113T>G) c.1295T>G (p.Ile432Arg) c.1370T>G (p.Ile457Arg) c.1142T>G (p.Ile381Arg) | |
| 7 | g.107919074T= | CA1732860742 | DLD | c.1439T= (p.Ile480=) c.*1113T= (n.*1113T=) c.1295T= (p.Ile432=) c.1370T= (p.Ile457=) c.1142T= (p.Ile381=) | |
| 7 | g.107919075A= | CA1732860743 | DLD | c.1440A= (p.Ile480=) c.*1114A= (n.*1114A=) c.1296A= (p.Ile432=) c.1371A= (p.Ile457=) c.1143A= (p.Ile381=) | |
| 7 | g.107919075A>C | CA457109818 | DLD | c.1440A>C (p.Ile480=) c.*1114A>C (n.*1114A>C) c.1296A>C (p.Ile432=) c.1371A>C (p.Ile457=) c.1143A>C (p.Ile381=) | |
| 7 | g.107919075A>G | CA4434709 | DLD | c.1440A>G (p.Ile480Met) c.*1114A>G (n.*1114A>G) c.1296A>G (p.Ile432Met) c.1371A>G (p.Ile457Met) c.1143A>G (p.Ile381Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919075A>T | CA457109817 | DLD | c.1440A>T (p.Ile480=) c.*1114A>T (n.*1114A>T) c.1296A>T (p.Ile432=) c.1371A>T (p.Ile457=) c.1143A>T (p.Ile381=) | gnomAD v4 |
| 7 | g.107919076G>A | CA368859514 | DLD | c.1441G>A (p.Ala481Thr) c.*1115G>A (n.*1115G>A) c.1297G>A (p.Ala433Thr) c.1372G>A (p.Ala458Thr) c.1144G>A (p.Ala382Thr) | gnomAD v4 |
| 7 | g.107919076G>C | CA368859515 | DLD | c.1441G>C (p.Ala481Pro) c.*1115G>C (n.*1115G>C) c.1297G>C (p.Ala433Pro) c.1372G>C (p.Ala458Pro) c.1144G>C (p.Ala382Pro) | |
| 7 | g.107919076G>T | CA368859516 | DLD | c.1441G>T (p.Ala481Ser) c.*1115G>T (n.*1115G>T) c.1297G>T (p.Ala433Ser) c.1372G>T (p.Ala458Ser) c.1144G>T (p.Ala382Ser) | |
| 7 | g.107919077C>A | CA368859517 | DLD | c.1442C>A (p.Ala481Asp) c.*1116C>A (n.*1116C>A) c.1298C>A (p.Ala433Asp) c.1373C>A (p.Ala458Asp) c.1145C>A (p.Ala382Asp) | gnomAD v4 |
| 7 | g.107919077C>G | CA368859518 | DLD | c.1442C>G (p.Ala481Gly) c.*1116C>G (n.*1116C>G) c.1298C>G (p.Ala433Gly) c.1373C>G (p.Ala458Gly) c.1145C>G (p.Ala382Gly) | |
| 7 | g.107919077C>T | CA368859519 | DLD | c.1442C>T (p.Ala481Val) c.*1116C>T (n.*1116C>T) c.1298C>T (p.Ala433Val) c.1373C>T (p.Ala458Val) c.1145C>T (p.Ala382Val) | |
| 7 | g.107919078T>A | CA457109819 | DLD | c.1443T>A (p.Ala481=) c.*1117T>A (n.*1117T>A) c.1299T>A (p.Ala433=) c.1374T>A (p.Ala458=) c.1146T>A (p.Ala382=) | |
| 7 | g.107919078T>C | CA457109820 | DLD | c.1443T>C (p.Ala481=) c.*1117T>C (n.*1117T>C) c.1299T>C (p.Ala433=) c.1374T>C (p.Ala458=) c.1146T>C (p.Ala382=) | |
| 7 | g.107919078T>G | CA4434710 | DLD | c.1443T>G (p.Ala481=) c.*1117T>G (n.*1117T>G) c.1299T>G (p.Ala433=) c.1374T>G (p.Ala458=) c.1146T>G (p.Ala382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919078T= | CA1732860745 | DLD | c.1443T= (p.Ala481=) c.*1117T= (n.*1117T=) c.1299T= (p.Ala433=) c.1374T= (p.Ala458=) c.1146T= (p.Ala382=) | |
| 7 | g.107919078_107919080del | CA913111804 | DLD | c.1443_1445del (p.Arg482del) c.*1117_*1119del (n.*1117_*1119del) c.1299_1301del (p.Arg434del) c.1374_1376del (p.Arg459del) c.1146_1148del (p.Arg383del) | |
| 7 | g.107919078_107919080delinsTAG | CA1732860744 | DLD | c.1443_1445delinsTAG (p.Ala481=) c.*1117_*1119delinsTAG (n.*1117_*1119delinsTAG) c.1299_1301delinsTAG (p.Ala433=) c.1374_1376delinsTAG (p.Ala458=) c.1146_1148delinsTAG (p.Ala382=) | |
| 7 | g.107919079A= | CA1732860746 | DLD | c.1444A= (p.Arg482=) c.*1118A= (n.*1118A=) c.1300A= (p.Arg434=) c.1375A= (p.Arg459=) c.1147A= (p.Arg383=) |