Allele Registry

Amino-acid Alleles

HGVS (amino-acid)

Transcript change

ENSP00000423828.2:p.Gly487Arg

ENST00000512211.6:c.[1458_1459delinsCA;14...

ENST00000512211.6:c.[1458_1459delinsCA;15...

ENST00000512211.6:c.[1459G>A;1462C=]

ENST00000512211.6:c.[1459G>A;1462C>T;1464...

ENST00000512211.6:c.[1459G>A;1463T=]

ENST00000512211.6:c.[1459G>A;1463_1476del...

ENST00000512211.6:c.[1459G>A;1464T>A]

ENST00000512211.6:c.[1459G>A;1464T>C]

ENST00000512211.6:c.[1459G>A;1464T>G]

ENST00000512211.6:c.[1459G>A;1465A=]

ENST00000512211.6:c.[1459G>A;1465_1467del...

ENST00000512211.6:c.[1459G>A;1467T>A]

ENST00000512211.6:c.[1459G>A;1467T>C]

ENST00000512211.6:c.[1459G>A;1467T>G]

ENST00000512211.6:c.[1459G>A;1468A=]

ENST00000512211.6:c.[1459G>A;1470T>C]

ENST00000512211.6:c.[1459G>A;1471G=]

ENST00000512211.6:c.[1459G>A;1472A=]

ENST00000512211.6:c.[1459G>A;1473C>T]

ENST00000512211.6:c.[1459G>A;1474C=]

ENST00000512211.6:c.[1459G>A;1475A=]

ENST00000512211.6:c.[1459G>A;1476del;1477...

ENST00000512211.6:c.[1459G>A;1476C=]

ENST00000512211.6:c.[1459G>A;1476C>T]

ENST00000512211.6:c.[1459G>A;1476_1477del...

ENST00000512211.6:c.[1459G>A;1478A=]

ENST00000512211.6:c.[1459G>A;1479C=]

ENST00000512211.6:c.[1459G>A;1479C>T]

ENST00000512211.6:c.[1459G>A;1480A=]

ENST00000512211.6:c.[1459G>A;1481G=]

ENST00000512211.6:c.[1459G>A;1482T>C]

ENST00000512211.6:c.[1459G>A;1482T=]

ENST00000512211.6:c.[1459G>A;1483A=]

ENST00000512211.6:c.[1459G>A;1484T=]

ENST00000512211.6:c.[1459G>A;1485del;1486...

ENST00000512211.6:c.[1459G>A;1485T>A]

ENST00000512211.6:c.[1459G>A;1485T>C]

ENST00000512211.6:c.[1459G>A;1485T=]

ENST00000512211.6:c.[1459G>A;1486A=]

ENST00000512211.6:c.[1459G>A;1487C=]

ENST00000512211.6:c.[1459G>A;1488A=]

ENST00000512211.6:c.[1459G>A;1488A>C]

ENST00000512211.6:c.[1459G>A;1488A>G]

ENST00000512211.6:c.[1459G>A;1488A>T]

ENST00000512211.6:c.[1459G>A;1489C=]

ENST00000512211.6:c.[1459G>A;1489C>T]

ENST00000512211.6:c.[1459G>A;1490dup;1492...

ENST00000512211.6:c.[1459G>A;1491A=]

ENST00000512211.6:c.[1459G>A;1491A>C]

ENST00000512211.6:c.[1459G>A;1491A>G]

ENST00000512211.6:c.[1459G>A;1491A>T]

ENST00000512211.6:c.[1459G>A;1491_1492del...

ENST00000512211.6:c.[1459G>A;1492A>C]

ENST00000512211.6:c.[1459G>A;1493G=]

ENST00000512211.6:c.[1459G>A;1493_1494del...

ENST00000512211.6:c.[1459G>A;1494A=]

ENST00000512211.6:c.[1459G>A;1494A>G]

ENST00000512211.6:c.[1459G>A;1494_1495del...

ENST00000512211.6:c.[1459G>A;1494_1510del...

ENST00000512211.6:c.[1459G>A;1495C>A]

ENST00000512211.6:c.[1459G>A;1495C=]

ENST00000512211.6:c.[1459G>A;1496G=]

ENST00000512211.6:c.[1459G>A;1497A>C]

ENST00000512211.6:c.[1459G>A;1497A>G]

ENST00000512211.6:c.[1459G>A;1497A>T]

ENST00000512211.6:c.[1459G>A;1498T=]

ENST00000512211.6:c.[1459G>A;1499A=]

ENST00000512211.6:c.[1459G>A;1500T>C]

ENST00000512211.6:c.[1459G>A;1500T=]

ENST00000512211.6:c.[1459G>A;1501G=]

ENST00000512211.6:c.[1459G>A;1502C=]

ENST00000512211.6:c.[1459G>A;1503T>A]

ENST00000512211.6:c.[1459G>A;1503T>C]

ENST00000512211.6:c.[1459G>A;1503T>G]

ENST00000512211.6:c.[1459G>A;1503T=]

ENST00000512211.6:c.[1459G>A;1505G=]

ENST00000512211.6:c.[1459G>A;1506A=]

ENST00000512211.6:c.[1459G>A;1506A>C]

ENST00000512211.6:c.[1459G>A;1506A>G]

ENST00000512211.6:c.[1459G>A;1506A>T]

ENST00000512211.6:c.[1459G>A;1510G=]

ENST00000512211.6:c.[1459G>A;1512T>A]

ENST00000512211.6:c.[1459G>A;1512T>C]

ENST00000512211.6:c.[1459G>A;1512T>G]

ENST00000512211.6:c.[1459G>A;1512T=]

ENST00000512211.6:c.[1459G>A;1513T>C]

ENST00000512211.6:c.[1459G>A;1515G>A]

ENST00000512211.6:c.[1459G>A;1515G=]

ENST00000512211.6:c.[1459G>A;1518A>C]

ENST00000512211.6:c.[1459G>A;1518A>G]

ENST00000512211.6:c.[1459G>A;1518A>T]

ENST00000512211.6:c.[1459G>A;1519A=]

ENST00000512211.6:c.[1459G>A;1521C=]

ENST00000512211.6:c.[1459G>A;1521C>T]

ENST00000512211.6:c.[1459G>A;1521_1523del...

ENST00000512211.6:c.[1459G>A;1522T>C]

ENST00000512211.6:c.[1459G>A;1524G>A]

ENST00000512211.6:c.[1459G>A;1524G=]

ENST00000512211.6:c.[1459G>A;1524_1527del...

ENST00000512211.6:c.[1459G>A;1525A=]

ENST00000512211.6:c.[1459G>A;1525_1526del...

ENST00000512211.6:c.[1459G>A;1526C=]

ENST00000512211.6:c.[1459G>A;1526_1528del...

ENST00000512211.6:c.[1459G>A;1527T>A]

ENST00000512211.6:c.[1459G>A;1527T>C]

ENST00000512211.6:c.[1459G>A;1527T>G]

ENST00000512211.6:c.[1459G>A;1527T=]

ENST00000512211.6:c.[1459G>A;1529T=]

ENST00000512211.6:c.[1459G>A;1530T>C]

ENST00000512211.6:c.[1459G>A;1530T=]

ENST00000512211.6:c.[1459G>A;1531G=]

ENST00000512211.6:c.[1459G>A;1533A=]

ENST00000512211.6:c.[1459G>A;1533A>C]

ENST00000512211.6:c.[1459G>A;1533A>G]

ENST00000512211.6:c.[1459G>A;1533A>T]

ENST00000512211.6:c.[1459G>A;1534G=]

ENST00000512211.6:c.[1459G>A;1535A=]

ENST00000512211.6:c.[1459G>A;1536T>C]

ENST00000512211.6:c.[1459G>A;1536_1548del...

ENST00000512211.6:c.[1459G>A;1537G=]

ENST00000512211.6:c.[1459G>A;1538T=]

ENST00000512211.6:c.[1459G>A;1539A=]

ENST00000512211.6:c.[1459G>A;1539A>C]

ENST00000512211.6:c.[1459G>A;1539A>G]

ENST00000512211.6:c.[1459G>A;1539A>T]

ENST00000512211.6:c.[1459G>A;1541C=]

ENST00000512211.6:c.[1459G>A;1542C>A]

ENST00000512211.6:c.[1459G>A;1542C=]

ENST00000512211.6:c.[1459G>A;1542C>G]

ENST00000512211.6:c.[1459G>A;1542C>T]

ENST00000512211.6:c.[1459G>C;1462C=]

ENST00000512211.6:c.[1459G>C;1462C>T;1464...

ENST00000512211.6:c.[1459G>C;1463T=]

ENST00000512211.6:c.[1459G>C;1463_1476del...

ENST00000512211.6:c.[1459G>C;1464T>A]

ENST00000512211.6:c.[1459G>C;1464T>C]

ENST00000512211.6:c.[1459G>C;1464T>G]

ENST00000512211.6:c.[1459G>C;1465A=]

ENST00000512211.6:c.[1459G>C;1465_1467del...

ENST00000512211.6:c.[1459G>C;1467T>A]

ENST00000512211.6:c.[1459G>C;1467T>C]

ENST00000512211.6:c.[1459G>C;1467T>G]

ENST00000512211.6:c.[1459G>C;1468A=]

ENST00000512211.6:c.[1459G>C;1470T>C]

ENST00000512211.6:c.[1459G>C;1471G=]

ENST00000512211.6:c.[1459G>C;1472A=]

ENST00000512211.6:c.[1459G>C;1473C>T]

ENST00000512211.6:c.[1459G>C;1474C=]

ENST00000512211.6:c.[1459G>C;1475A=]

ENST00000512211.6:c.[1459G>C;1476del;1477...

ENST00000512211.6:c.[1459G>C;1476C=]

ENST00000512211.6:c.[1459G>C;1476C>T]

ENST00000512211.6:c.[1459G>C;1476_1477del...

ENST00000512211.6:c.[1459G>C;1478A=]

ENST00000512211.6:c.[1459G>C;1479C=]

ENST00000512211.6:c.[1459G>C;1479C>T]

ENST00000512211.6:c.[1459G>C;1480A=]

ENST00000512211.6:c.[1459G>C;1481G=]

ENST00000512211.6:c.[1459G>C;1482T>C]

ENST00000512211.6:c.[1459G>C;1482T=]

ENST00000512211.6:c.[1459G>C;1483A=]

ENST00000512211.6:c.[1459G>C;1484T=]

ENST00000512211.6:c.[1459G>C;1485del;1486...

ENST00000512211.6:c.[1459G>C;1485T>A]

ENST00000512211.6:c.[1459G>C;1485T>C]

ENST00000512211.6:c.[1459G>C;1485T=]

ENST00000512211.6:c.[1459G>C;1486A=]

ENST00000512211.6:c.[1459G>C;1487C=]

ENST00000512211.6:c.[1459G>C;1488A=]

ENST00000512211.6:c.[1459G>C;1488A>C]

ENST00000512211.6:c.[1459G>C;1488A>G]

ENST00000512211.6:c.[1459G>C;1488A>T]

ENST00000512211.6:c.[1459G>C;1489C=]

ENST00000512211.6:c.[1459G>C;1489C>T]

ENST00000512211.6:c.[1459G>C;1490dup;1492...

ENST00000512211.6:c.[1459G>C;1491A=]

ENST00000512211.6:c.[1459G>C;1491A>C]

ENST00000512211.6:c.[1459G>C;1491A>G]

ENST00000512211.6:c.[1459G>C;1491A>T]

ENST00000512211.6:c.[1459G>C;1491_1492del...

ENST00000512211.6:c.[1459G>C;1492A>C]

ENST00000512211.6:c.[1459G>C;1493G=]

ENST00000512211.6:c.[1459G>C;1493_1494del...

ENST00000512211.6:c.[1459G>C;1494A=]

ENST00000512211.6:c.[1459G>C;1494A>G]

ENST00000512211.6:c.[1459G>C;1494_1495del...

ENST00000512211.6:c.[1459G>C;1494_1510del...

ENST00000512211.6:c.[1459G>C;1495C>A]

ENST00000512211.6:c.[1459G>C;1495C=]

ENST00000512211.6:c.[1459G>C;1496G=]

ENST00000512211.6:c.[1459G>C;1497A>C]

ENST00000512211.6:c.[1459G>C;1497A>G]

ENST00000512211.6:c.[1459G>C;1497A>T]

ENST00000512211.6:c.[1459G>C;1498T=]

ENST00000512211.6:c.[1459G>C;1499A=]

ENST00000512211.6:c.[1459G>C;1500T>C]

ENST00000512211.6:c.[1459G>C;1500T=]

ENST00000512211.6:c.[1459G>C;1501G=]

ENST00000512211.6:c.[1459G>C;1502C=]

ENST00000512211.6:c.[1459G>C;1503T>A]

ENST00000512211.6:c.[1459G>C;1503T>C]

ENST00000512211.6:c.[1459G>C;1503T>G]

ENST00000512211.6:c.[1459G>C;1503T=]

ENST00000512211.6:c.[1459G>C;1505G=]

ENST00000512211.6:c.[1459G>C;1506A=]

ENST00000512211.6:c.[1459G>C;1506A>C]

ENST00000512211.6:c.[1459G>C;1506A>G]

ENST00000512211.6:c.[1459G>C;1506A>T]

ENST00000512211.6:c.[1459G>C;1510G=]

ENST00000512211.6:c.[1459G>C;1512T>A]

ENST00000512211.6:c.[1459G>C;1512T>C]

ENST00000512211.6:c.[1459G>C;1512T>G]

ENST00000512211.6:c.[1459G>C;1512T=]

ENST00000512211.6:c.[1459G>C;1513T>C]

ENST00000512211.6:c.[1459G>C;1515G>A]

ENST00000512211.6:c.[1459G>C;1515G=]

ENST00000512211.6:c.[1459G>C;1518A>C]

ENST00000512211.6:c.[1459G>C;1518A>G]

ENST00000512211.6:c.[1459G>C;1518A>T]

ENST00000512211.6:c.[1459G>C;1519A=]

ENST00000512211.6:c.[1459G>C;1521C=]

ENST00000512211.6:c.[1459G>C;1521C>T]

ENST00000512211.6:c.[1459G>C;1521_1523del...

ENST00000512211.6:c.[1459G>C;1522T>C]

ENST00000512211.6:c.[1459G>C;1524G>A]

ENST00000512211.6:c.[1459G>C;1524G=]

ENST00000512211.6:c.[1459G>C;1524_1527del...

ENST00000512211.6:c.[1459G>C;1525A=]

ENST00000512211.6:c.[1459G>C;1525_1526del...

ENST00000512211.6:c.[1459G>C;1526C=]

ENST00000512211.6:c.[1459G>C;1526_1528del...

ENST00000512211.6:c.[1459G>C;1527T>A]

ENST00000512211.6:c.[1459G>C;1527T>C]

ENST00000512211.6:c.[1459G>C;1527T>G]

ENST00000512211.6:c.[1459G>C;1527T=]

ENST00000512211.6:c.[1459G>C;1529T=]

ENST00000512211.6:c.[1459G>C;1530T>C]

ENST00000512211.6:c.[1459G>C;1530T=]

ENST00000512211.6:c.[1459G>C;1531G=]

ENST00000512211.6:c.[1459G>C;1533A=]

ENST00000512211.6:c.[1459G>C;1533A>C]

ENST00000512211.6:c.[1459G>C;1533A>G]

ENST00000512211.6:c.[1459G>C;1533A>T]

ENST00000512211.6:c.[1459G>C;1534G=]

ENST00000512211.6:c.[1459G>C;1535A=]

ENST00000512211.6:c.[1459G>C;1536T>C]

ENST00000512211.6:c.[1459G>C;1536_1548del...

ENST00000512211.6:c.[1459G>C;1537G=]

ENST00000512211.6:c.[1459G>C;1538T=]

ENST00000512211.6:c.[1459G>C;1539A=]

ENST00000512211.6:c.[1459G>C;1539A>C]

ENST00000512211.6:c.[1459G>C;1539A>G]

ENST00000512211.6:c.[1459G>C;1539A>T]

ENST00000512211.6:c.[1459G>C;1541C=]

ENST00000512211.6:c.[1459G>C;1542C>A]

ENST00000512211.6:c.[1459G>C;1542C=]

ENST00000512211.6:c.[1459G>C;1542C>G]

ENST00000512211.6:c.[1459G>C;1542C>T]