UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.6710741_6710742del | CA2587877879 | C3 | c.1460_1461del (p.Ser487PhefsTer?) c.707_708del (p.Ser236PhefsTer?) c.488_489del (p.Ser163PhefsTer?) n.947_948del c.1583_1584del (p.Ser528PhefsTer?) n.216_217del | gnomAD v4 |
| 19 | g.6710742G>A | CA403640420 | C3 | c.1460C>T (p.Ser487Phe) c.707C>T (p.Ser236Phe) c.488C>T (p.Ser163Phe) n.947C>T c.1583C>T (p.Ser528Phe) n.216C>T | |
| 19 | g.6710742G>C | CA403640421 | C3 | c.1460C>G (p.Ser487Cys) c.707C>G (p.Ser236Cys) c.488C>G (p.Ser163Cys) n.947C>G c.1583C>G (p.Ser528Cys) n.216C>G | |
| 19 | g.6710742G>T | CA403640422 | C3 | c.1460C>A (p.Ser487Tyr) c.707C>A (p.Ser236Tyr) c.488C>A (p.Ser163Tyr) n.947C>A c.1583C>A (p.Ser528Tyr) n.216C>A | |
| 19 | g.6710743A>C | CA403640424 | C3 | c.1459T>G (p.Ser487Ala) c.706T>G (p.Ser236Ala) c.487T>G (p.Ser163Ala) n.946T>G c.1582T>G (p.Ser528Ala) n.215T>G | gnomAD v4 |
| 19 | g.6710743A>G | CA403640425 | C3 | c.1459T>C (p.Ser487Pro) c.706T>C (p.Ser236Pro) c.487T>C (p.Ser163Pro) n.946T>C c.1582T>C (p.Ser528Pro) n.215T>C | |
| 19 | g.6710743A>T | CA403640423 | C3 | c.1459T>A (p.Ser487Thr) c.706T>A (p.Ser236Thr) c.487T>A (p.Ser163Thr) n.946T>A c.1582T>A (p.Ser528Thr) n.215T>A | |
| 19 | g.6710744A>C | CA505192759 | C3 | c.1458T>G (p.Pro486=) c.705T>G (p.Pro235=) c.486T>G (p.Pro162=) n.945T>G c.1581T>G (p.Pro527=) n.214T>G | |
| 19 | g.6710744A>G | CA505192760 | C3 | c.1458T>C (p.Pro486=) c.705T>C (p.Pro235=) c.486T>C (p.Pro162=) n.945T>C c.1581T>C (p.Pro527=) n.214T>C | ClinVar gnomAD v4 |
| 19 | g.6710744A>T | CA505192761 | C3 | c.1458T>A (p.Pro486=) c.705T>A (p.Pro235=) c.486T>A (p.Pro162=) n.945T>A c.1581T>A (p.Pro527=) n.214T>A | |
| 19 | g.6710745G>A | CA403640426 | C3 | c.1457C>T (p.Pro486Leu) c.704C>T (p.Pro235Leu) c.485C>T (p.Pro162Leu) n.944C>T c.1580C>T (p.Pro527Leu) n.213C>T | |
| 19 | g.6710745G>C | CA403640427 | C3 | c.1457C>G (p.Pro486Arg) c.704C>G (p.Pro235Arg) c.485C>G (p.Pro162Arg) n.944C>G c.1580C>G (p.Pro527Arg) n.213C>G | |
| 19 | g.6710745G>T | CA403640428 | C3 | c.1457C>A (p.Pro486His) c.704C>A (p.Pro235His) c.485C>A (p.Pro162His) n.944C>A c.1580C>A (p.Pro527His) n.213C>A | |
| 19 | g.6710745_6710750del | CA2587877880 | C3 | c.1452_1457del (p.Ile485_Pro486del) c.699_704del (p.Ile234_Pro235del) c.480_485del (p.Ile161_Pro162del) n.939_944del c.1575_1580del (p.Ile526_Pro527del) n.208_213del | gnomAD v4 |
| 19 | g.6710746G>A | CA403640429 | C3 | c.1456C>T (p.Pro486Ser) c.703C>T (p.Pro235Ser) c.484C>T (p.Pro162Ser) n.943C>T c.1579C>T (p.Pro527Ser) n.212C>T | |
| 19 | g.6710746G>C | CA403640430 | C3 | c.1456C>G (p.Pro486Ala) c.703C>G (p.Pro235Ala) c.484C>G (p.Pro162Ala) n.943C>G c.1579C>G (p.Pro527Ala) n.212C>G | |
| 19 | g.6710746G>T | CA403640431 | C3 | c.1456C>A (p.Pro486Thr) c.703C>A (p.Pro235Thr) c.484C>A (p.Pro162Thr) n.943C>A c.1579C>A (p.Pro527Thr) n.212C>A | |
| 19 | g.6710747G>A | CA505192762 | C3 | c.1455C>T (p.Ile485=) c.702C>T (p.Ile234=) c.483C>T (p.Ile161=) n.942C>T c.1578C>T (p.Ile526=) n.211C>T | COSMIC |
| 19 | g.6710747G>C | CA403640432 | C3 | c.1455C>G (p.Ile485Met) c.702C>G (p.Ile234Met) c.483C>G (p.Ile161Met) n.942C>G c.1578C>G (p.Ile526Met) n.211C>G | gnomAD v4 |
| 19 | g.6710747G>T | CA505192763 | C3 | c.1455C>A (p.Ile485=) c.702C>A (p.Ile234=) c.483C>A (p.Ile161=) n.942C>A c.1578C>A (p.Ile526=) n.211C>A | |
| 19 | g.6710748A>C | CA403640433 | C3 | c.1454T>G (p.Ile485Ser) c.701T>G (p.Ile234Ser) c.482T>G (p.Ile161Ser) n.941T>G c.1577T>G (p.Ile526Ser) n.210T>G | |
| 19 | g.6710748A>G | CA403640435 | C3 | c.1454T>C (p.Ile485Thr) c.701T>C (p.Ile234Thr) c.482T>C (p.Ile161Thr) n.941T>C c.1577T>C (p.Ile526Thr) n.210T>C | |
| 19 | g.6710748A>T | CA403640434 | C3 | c.1454T>A (p.Ile485Asn) c.701T>A (p.Ile234Asn) c.482T>A (p.Ile161Asn) n.941T>A c.1577T>A (p.Ile526Asn) n.210T>A | |
| 19 | g.6710749T>A | CA403640436 | C3 | c.1453A>T (p.Ile485Phe) c.700A>T (p.Ile234Phe) c.481A>T (p.Ile161Phe) n.940A>T c.1576A>T (p.Ile526Phe) n.209A>T | |
| 19 | g.6710749T>C | CA403640437 | C3 | c.1453A>G (p.Ile485Val) c.700A>G (p.Ile234Val) c.481A>G (p.Ile161Val) n.940A>G c.1576A>G (p.Ile526Val) n.209A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.6710749T>G | CA403640438 | C3 | c.1453A>C (p.Ile485Leu) c.700A>C (p.Ile234Leu) c.481A>C (p.Ile161Leu) n.940A>C c.1576A>C (p.Ile526Leu) n.209A>C | |
| 19 | g.6710749T= | CA2320566710 | C3 | c.1453A= (p.Ile485=) c.700A= (p.Ile234=) c.481A= (p.Ile161=) n.940A= c.1576A= (p.Ile526=) n.209A= | |
| 19 | g.6710750G>A | CA505192764 | C3 | c.1452C>T (p.Phe484=) c.699C>T (p.Phe233=) c.480C>T (p.Phe160=) n.939C>T c.1575C>T (p.Phe525=) n.208C>T | |
| 19 | g.6710750G>C | CA403640440 | C3 | c.1452C>G (p.Phe484Leu) c.699C>G (p.Phe233Leu) c.480C>G (p.Phe160Leu) n.939C>G c.1575C>G (p.Phe525Leu) n.208C>G | |
| 19 | g.6710750G>T | CA403640441 | C3 | c.1452C>A (p.Phe484Leu) c.699C>A (p.Phe233Leu) c.480C>A (p.Phe160Leu) n.939C>A c.1575C>A (p.Phe525Leu) n.208C>A | |
| 19 | g.6710751A>C | CA403640442 | C3 | c.1451T>G (p.Phe484Cys) c.698T>G (p.Phe233Cys) c.479T>G (p.Phe160Cys) n.938T>G c.1574T>G (p.Phe525Cys) n.207T>G | |
| 19 | g.6710751A>G | CA403640444 | C3 | c.1451T>C (p.Phe484Ser) c.698T>C (p.Phe233Ser) c.479T>C (p.Phe160Ser) n.938T>C c.1574T>C (p.Phe525Ser) n.207T>C | |
| 19 | g.6710751A>T | CA403640443 | C3 | c.1451T>A (p.Phe484Tyr) c.698T>A (p.Phe233Tyr) c.479T>A (p.Phe160Tyr) n.938T>A c.1574T>A (p.Phe525Tyr) n.207T>A | |
| 19 | g.6710752A>C | CA403640445 | C3 | c.1450T>G (p.Phe484Val) c.697T>G (p.Phe233Val) c.478T>G (p.Phe160Val) n.937T>G c.1573T>G (p.Phe525Val) n.206T>G | |
| 19 | g.6710752A>G | CA403640446 | C3 | c.1450T>C (p.Phe484Leu) c.697T>C (p.Phe233Leu) c.478T>C (p.Phe160Leu) n.937T>C c.1573T>C (p.Phe525Leu) n.206T>C | |
| 19 | g.6710752A>T | CA403640447 | C3 | c.1450T>A (p.Phe484Ile) c.697T>A (p.Phe233Ile) c.478T>A (p.Phe160Ile) n.937T>A c.1573T>A (p.Phe525Ile) n.206T>A | |
| 19 | g.6710753G>A | CA505192765 | C3 | c.1449C>T (p.Asp483=) c.696C>T (p.Asp232=) c.477C>T (p.Asp159=) n.936C>T c.1572C>T (p.Asp524=) n.205C>T | gnomAD v4 |
| 19 | g.6710753G>C | CA403640448 | C3 | c.1449C>G (p.Asp483Glu) c.696C>G (p.Asp232Glu) c.477C>G (p.Asp159Glu) n.936C>G c.1572C>G (p.Asp524Glu) n.205C>G | |
| 19 | g.6710753G>T | CA403640449 | C3 | c.1449C>A (p.Asp483Glu) c.696C>A (p.Asp232Glu) c.477C>A (p.Asp159Glu) n.936C>A c.1572C>A (p.Asp524Glu) n.205C>A | |
| 19 | g.6710754T>A | CA403640450 | C3 | c.1448A>T (p.Asp483Val) c.695A>T (p.Asp232Val) c.476A>T (p.Asp159Val) n.935A>T c.1571A>T (p.Asp524Val) n.204A>T | |
| 19 | g.6710754T>C | CA403640451 | C3 | c.1448A>G (p.Asp483Gly) c.695A>G (p.Asp232Gly) c.476A>G (p.Asp159Gly) n.935A>G c.1571A>G (p.Asp524Gly) n.204A>G | |
| 19 | g.6710754T>G | CA403640452 | C3 | c.1448A>C (p.Asp483Ala) c.695A>C (p.Asp232Ala) c.476A>C (p.Asp159Ala) n.935A>C c.1571A>C (p.Asp524Ala) n.204A>C | |
| 19 | g.6710755C>A | CA403640453 | C3 | c.1447G>T (p.Asp483Tyr) c.694G>T (p.Asp232Tyr) c.475G>T (p.Asp159Tyr) n.934G>T c.1570G>T (p.Asp524Tyr) n.203G>T | |
| 19 | g.6710755C= | CA2320566711 | C3 | c.1447G= (p.Asp483=) c.694G= (p.Asp232=) c.475G= (p.Asp159=) n.934G= c.1570G= (p.Asp524=) n.203G= | |
| 19 | g.6710755C>G | CA403640454 | C3 | c.1447G>C (p.Asp483His) c.694G>C (p.Asp232His) c.475G>C (p.Asp159His) n.934G>C c.1570G>C (p.Asp524His) n.203G>C | |
| 19 | g.6710755C>T | CA403640455 | C3 | c.1447G>A (p.Asp483Asn) c.694G>A (p.Asp232Asn) c.475G>A (p.Asp159Asn) n.934G>A c.1570G>A (p.Asp524Asn) n.203G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.6710756G>A | CA9129403 | C3 | c.1446C>T (p.Thr482=) c.693C>T (p.Thr231=) c.474C>T (p.Thr158=) n.933C>T c.1569C>T (p.Thr523=) n.202C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6710756G>C | CA505192766 | C3 | c.1446C>G (p.Thr482=) c.693C>G (p.Thr231=) c.474C>G (p.Thr158=) n.933C>G c.1569C>G (p.Thr523=) n.202C>G | |
| 19 | g.6710756G= | CA2320566712 | C3 | c.1446C= (p.Thr482=) c.693C= (p.Thr231=) c.474C= (p.Thr158=) n.933C= c.1569C= (p.Thr523=) n.202C= | |
| 19 | g.6710756G>T | CA505192767 | C3 | c.1446C>A (p.Thr482=) c.693C>A (p.Thr231=) c.474C>A (p.Thr158=) n.933C>A c.1569C>A (p.Thr523=) n.202C>A |