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.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.107919081_107919082del | CA658821778 | DLD | c.1446_1447del (p.Arg482SerfsTer13) c.*1120_*1121del (n.*1120_*1121del) c.1302_1303del (p.Arg434SerfsTer13) c.1377_1378del (p.Arg459SerfsTer13) c.1149_1150del (p.Arg383SerfsTer13) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107919080G>A | CA368859521 | DLD | c.1445G>A (p.Arg482Lys) c.*1119G>A (n.*1119G>A) c.1301G>A (p.Arg434Lys) c.1376G>A (p.Arg459Lys) c.1148G>A (p.Arg383Lys) | |
| 7 | g.107919080G>C | CA368859522 | DLD | c.1445G>C (p.Arg482Thr) c.*1119G>C (n.*1119G>C) c.1301G>C (p.Arg434Thr) c.1376G>C (p.Arg459Thr) c.1148G>C (p.Arg383Thr) | |
| 7 | g.107919080G>T | CA368859523 | DLD | c.1445G>T (p.Arg482Ile) c.*1119G>T (n.*1119G>T) c.1301G>T (p.Arg434Ile) c.1376G>T (p.Arg459Ile) c.1148G>T (p.Arg383Ile) | |
| 7 | g.107919081A>C | CA368859524 | DLD | c.1446A>C (p.Arg482Ser) c.*1120A>C (n.*1120A>C) c.1302A>C (p.Arg434Ser) c.1377A>C (p.Arg459Ser) c.1149A>C (p.Arg383Ser) | |
| 7 | g.107919081A>G | CA457109822 | DLD | c.1446A>G (p.Arg482=) c.*1120A>G (n.*1120A>G) c.1302A>G (p.Arg434=) c.1377A>G (p.Arg459=) c.1149A>G (p.Arg383=) | gnomAD v4 |
| 7 | g.107919081A>T | CA368859525 | DLD | c.1446A>T (p.Arg482Ser) c.*1120A>T (n.*1120A>T) c.1302A>T (p.Arg434Ser) c.1377A>T (p.Arg459Ser) c.1149A>T (p.Arg383Ser) | |
| 7 | g.107919082G>A | CA368859526 | DLD | c.1447G>A (p.Val483Ile) c.*1121G>A (n.*1121G>A) c.1303G>A (p.Val435Ile) c.1378G>A (p.Val460Ile) c.1150G>A (p.Val384Ile) | gnomAD v4 |
| 7 | g.107919082G>C | CA368859527 | DLD | c.1447G>C (p.Val483Leu) c.*1121G>C (n.*1121G>C) c.1303G>C (p.Val435Leu) c.1378G>C (p.Val460Leu) c.1150G>C (p.Val384Leu) | |
| 7 | g.107919082G>T | CA368859528 | DLD | c.1447G>T (p.Val483Phe) c.*1121G>T (n.*1121G>T) c.1303G>T (p.Val435Phe) c.1378G>T (p.Val460Phe) c.1150G>T (p.Val384Phe) | |
| 7 | g.107919083T>A | CA368859529 | DLD | c.1448T>A (p.Val483Asp) c.*1122T>A (n.*1122T>A) c.1304T>A (p.Val435Asp) c.1379T>A (p.Val460Asp) c.1151T>A (p.Val384Asp) | |
| 7 | g.107919083T>C | CA368859530 | DLD | c.1448T>C (p.Val483Ala) c.*1122T>C (n.*1122T>C) c.1304T>C (p.Val435Ala) c.1379T>C (p.Val460Ala) c.1151T>C (p.Val384Ala) | |
| 7 | g.107919083T>G | CA368859531 | DLD | c.1448T>G (p.Val483Gly) c.*1122T>G (n.*1122T>G) c.1304T>G (p.Val435Gly) c.1379T>G (p.Val460Gly) c.1151T>G (p.Val384Gly) | |
| 7 | g.107919084C>A | CA457109823 | DLD | c.1449C>A (p.Val483=) c.*1123C>A (n.*1123C>A) c.1305C>A (p.Val435=) c.1380C>A (p.Val460=) c.1152C>A (p.Val384=) | |
| 7 | g.107919084C>G | CA457109824 | DLD | c.1449C>G (p.Val483=) c.*1123C>G (n.*1123C>G) c.1305C>G (p.Val435=) c.1380C>G (p.Val460=) c.1152C>G (p.Val384=) | |
| 7 | g.107919084C>T | CA457109825 | DLD | c.1449C>T (p.Val483=) c.*1123C>T (n.*1123C>T) c.1305C>T (p.Val435=) c.1380C>T (p.Val460=) c.1152C>T (p.Val384=) | |
| 7 | g.107919085T>A | CA368859532 | DLD | c.1450T>A (p.Cys484Ser) c.*1124T>A (n.*1124T>A) c.1306T>A (p.Cys436Ser) c.1381T>A (p.Cys461Ser) c.1153T>A (p.Cys385Ser) | |
| 7 | g.107919085T>C | CA368859534 | DLD | c.1450T>C (p.Cys484Arg) c.*1124T>C (n.*1124T>C) c.1306T>C (p.Cys436Arg) c.1381T>C (p.Cys461Arg) c.1153T>C (p.Cys385Arg) | |
| 7 | g.107919085T>G | CA368859533 | DLD | c.1450T>G (p.Cys484Gly) c.*1124T>G (n.*1124T>G) c.1306T>G (p.Cys436Gly) c.1381T>G (p.Cys461Gly) c.1153T>G (p.Cys385Gly) | |
| 7 | g.107919086_107919087del | CA2684460717 | DLD | c.1451_1452del (p.Cys484SerfsTer11) c.*1125_*1126del (n.*1125_*1126del) c.1307_1308del (p.Cys436SerfsTer11) c.1382_1383del (p.Cys461SerfsTer11) c.1154_1155del (p.Cys385SerfsTer11) | gnomAD v4 |
| 7 | g.107919086G>A | CA368859535 | DLD | c.1451G>A (p.Cys484Tyr) c.*1125G>A (n.*1125G>A) c.1307G>A (p.Cys436Tyr) c.1382G>A (p.Cys461Tyr) c.1154G>A (p.Cys385Tyr) | |
| 7 | g.107919086G>C | CA368859537 | DLD | c.1451G>C (p.Cys484Ser) c.*1125G>C (n.*1125G>C) c.1307G>C (p.Cys436Ser) c.1382G>C (p.Cys461Ser) c.1154G>C (p.Cys385Ser) | |
| 7 | g.107919086G>T | CA368859536 | DLD | c.1451G>T (p.Cys484Phe) c.*1125G>T (n.*1125G>T) c.1307G>T (p.Cys436Phe) c.1382G>T (p.Cys461Phe) c.1154G>T (p.Cys385Phe) | |
| 7 | g.107919087T>A | CA368859538 | DLD | c.1452T>A (p.Cys484Ter) c.*1126T>A (n.*1126T>A) c.1308T>A (p.Cys436Ter) c.1383T>A (p.Cys461Ter) c.1155T>A (p.Cys385Ter) | |
| 7 | g.107919087T>C | CA4434711 | DLD | c.1452T>C (p.Cys484=) c.*1126T>C (n.*1126T>C) c.1308T>C (p.Cys436=) c.1383T>C (p.Cys461=) c.1155T>C (p.Cys385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107919087T>G | CA368859539 | DLD | c.1452T>G (p.Cys484Trp) c.*1126T>G (n.*1126T>G) c.1308T>G (p.Cys436Trp) c.1383T>G (p.Cys461Trp) c.1155T>G (p.Cys385Trp) | |
| 7 | g.107919087T= | CA1732860747 | DLD | c.1452T= (p.Cys484=) c.*1126T= (n.*1126T=) c.1308T= (p.Cys436=) c.1383T= (p.Cys461=) c.1155T= (p.Cys385=) | |
| 7 | g.107919088C>A | CA368859540 | DLD | c.1453C>A (p.His485Asn) c.*1127C>A (n.*1127C>A) c.1309C>A (p.His437Asn) c.1384C>A (p.His462Asn) c.1156C>A (p.His386Asn) | |
| 7 | g.107919088C>G | CA368859541 | DLD | c.1453C>G (p.His485Asp) c.*1127C>G (n.*1127C>G) c.1309C>G (p.His437Asp) c.1384C>G (p.His462Asp) c.1156C>G (p.His386Asp) | |
| 7 | g.107919088C>T | CA368859542 | DLD | c.1453C>T (p.His485Tyr) c.*1127C>T (n.*1127C>T) c.1309C>T (p.His437Tyr) c.1384C>T (p.His462Tyr) c.1156C>T (p.His386Tyr) | |
| 7 | g.107919089A>C | CA368859543 | DLD | c.1454A>C (p.His485Pro) c.*1128A>C (n.*1128A>C) c.1310A>C (p.His437Pro) c.1385A>C (p.His462Pro) c.1157A>C (p.His386Pro) | |
| 7 | g.107919089A>G | CA368859544 | DLD | c.1454A>G (p.His485Arg) c.*1128A>G (n.*1128A>G) c.1310A>G (p.His437Arg) c.1385A>G (p.His462Arg) c.1157A>G (p.His386Arg) | gnomAD v4 |
| 7 | g.107919089A>T | CA368859545 | DLD | c.1454A>T (p.His485Leu) c.*1128A>T (n.*1128A>T) c.1310A>T (p.His437Leu) c.1385A>T (p.His462Leu) c.1157A>T (p.His386Leu) | |
| 7 | g.107919090T>A | CA368859546 | DLD | c.1455T>A (p.His485Gln) c.*1129T>A (n.*1129T>A) c.1311T>A (p.His437Gln) c.1386T>A (p.His462Gln) c.1158T>A (p.His386Gln) | |
| 7 | g.107919090T>C | CA457109827 | DLD | c.1455T>C (p.His485=) c.*1129T>C (n.*1129T>C) c.1311T>C (p.His437=) c.1386T>C (p.His462=) c.1158T>C (p.His386=) | dbSNP |
| 7 | g.107919090T>G | CA368859547 | DLD | c.1455T>G (p.His485Gln) c.*1129T>G (n.*1129T>G) c.1311T>G (p.His437Gln) c.1386T>G (p.His462Gln) c.1158T>G (p.His386Gln) | |
| 7 | g.107919090T= | CA1732860748 | DLD | c.1455T= (p.His485=) c.*1129T= (n.*1129T=) c.1311T= (p.His437=) c.1386T= (p.His462=) c.1158T= (p.His386=) | |
| 7 | g.107919091G>A | CA4434712 | DLD | c.1456G>A (p.Ala486Thr) c.*1130G>A (n.*1130G>A) c.1312G>A (p.Ala438Thr) c.1387G>A (p.Ala463Thr) c.1159G>A (p.Ala387Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919091G>C | CA368859549 | DLD | c.1456G>C (p.Ala486Pro) c.*1130G>C (n.*1130G>C) c.1312G>C (p.Ala438Pro) c.1387G>C (p.Ala463Pro) c.1159G>C (p.Ala387Pro) | |
| 7 | g.107919091G= | CA1732860749 | DLD | c.1456G= (p.Ala486=) c.*1130G= (n.*1130G=) c.1312G= (p.Ala438=) c.1387G= (p.Ala463=) c.1159G= (p.Ala387=) | |
| 7 | g.107919091G>T | CA368859548 | DLD | c.1456G>T (p.Ala486Ser) c.*1130G>T (n.*1130G>T) c.1312G>T (p.Ala438Ser) c.1387G>T (p.Ala463Ser) c.1159G>T (p.Ala387Ser) | |
| 7 | g.107919092C>A | CA368859550 | DLD | c.1457C>A (p.Ala486Glu) c.*1131C>A (n.*1131C>A) c.1313C>A (p.Ala438Glu) c.1388C>A (p.Ala463Glu) c.1160C>A (p.Ala387Glu) | |
| 7 | g.107919092C>G | CA368859551 | DLD | c.1457C>G (p.Ala486Gly) c.*1131C>G (n.*1131C>G) c.1313C>G (p.Ala438Gly) c.1388C>G (p.Ala463Gly) c.1160C>G (p.Ala387Gly) | |
| 7 | g.107919092C>T | CA368859552 | DLD | c.1457C>T (p.Ala486Val) c.*1131C>T (n.*1131C>T) c.1313C>T (p.Ala438Val) c.1388C>T (p.Ala463Val) c.1160C>T (p.Ala387Val) | |
| 7 | g.107919093A>C | CA457109829 | DLD | c.1458A>C (p.Ala486=) c.*1132A>C (n.*1132A>C) c.1314A>C (p.Ala438=) c.1389A>C (p.Ala463=) c.1161A>C (p.Ala387=) | |
| 7 | g.107919093A>G | CA457109830 | DLD | c.1458A>G (p.Ala486=) c.*1132A>G (n.*1132A>G) c.1314A>G (p.Ala438=) c.1389A>G (p.Ala463=) c.1161A>G (p.Ala387=) | |
| 7 | g.107919093A>T | CA457109831 | DLD | c.1458A>T (p.Ala486=) c.*1132A>T (n.*1132A>T) c.1314A>T (p.Ala438=) c.1389A>T (p.Ala463=) c.1161A>T (p.Ala387=) | |
| 7 | g.107919094C>A | CA368859553 | DLD | c.1459C>A (p.His487Asn) c.*1133C>A (n.*1133C>A) c.1315C>A (p.His439Asn) c.1390C>A (p.His464Asn) c.1162C>A (p.His388Asn) |