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 |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583201T>A | CA362689741 | DSP | c.4610T>A (p.Leu1537His) c.5939T>A (p.Leu1980His) c.4142T>A (p.Leu1381His) | |
| 6 | g.7583201T>C | CA362689742 | DSP | c.4610T>C (p.Leu1537Pro) c.5939T>C (p.Leu1980Pro) c.4142T>C (p.Leu1381Pro) | ClinVar dbSNP |
| 6 | g.7583201T>G | CA362689743 | DSP | c.4610T>G (p.Leu1537Arg) c.5939T>G (p.Leu1980Arg) c.4142T>G (p.Leu1381Arg) | |
| 6 | g.7583201T= | CA1608607515 | DSP | c.4610T= (p.Leu1537=) c.5939T= (p.Leu1980=) c.4142T= (p.Leu1381=) | |
| 6 | g.7583202C>A | CA448715553 | DSP | c.4611C>A (p.Leu1537=) c.5940C>A (p.Leu1980=) c.4143C>A (p.Leu1381=) | |
| 6 | g.7583202C>G | CA448715554 | DSP | c.4611C>G (p.Leu1537=) c.5940C>G (p.Leu1980=) c.4143C>G (p.Leu1381=) | |
| 6 | g.7583202C>T | CA448715555 | DSP | c.4611C>T (p.Leu1537=) c.5940C>T (p.Leu1980=) c.4143C>T (p.Leu1381=) | |
| 6 | g.7583202dup | CA913190019 | DSP | c.4611dup (p.Tyr1538LeufsTer2) c.5940dup (p.Tyr1981LeufsTer2) c.4143dup (p.Tyr1382LeufsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583203T>A | CA362689744 | DSP | c.4612T>A (p.Tyr1538Asn) c.5941T>A (p.Tyr1981Asn) c.4144T>A (p.Tyr1382Asn) | |
| 6 | g.7583203T>C | CA362689745 | DSP | c.4612T>C (p.Tyr1538His) c.5941T>C (p.Tyr1981His) c.4144T>C (p.Tyr1382His) | |
| 6 | g.7583203T>G | CA362689746 | DSP | c.4612T>G (p.Tyr1538Asp) c.5941T>G (p.Tyr1981Asp) c.4144T>G (p.Tyr1382Asp) | |
| 6 | g.7583204A= | CA1608607525 | DSP | c.4613A= (p.Tyr1538=) c.5942A= (p.Tyr1981=) c.4145A= (p.Tyr1382=) | |
| 6 | g.7583204A>C | CA362689747 | DSP | c.4613A>C (p.Tyr1538Ser) c.5942A>C (p.Tyr1981Ser) c.4145A>C (p.Tyr1382Ser) | |
| 6 | g.7583204A>G | CA362689749 | DSP | c.4613A>G (p.Tyr1538Cys) c.5942A>G (p.Tyr1981Cys) c.4145A>G (p.Tyr1382Cys) | ClinVar dbSNP COSMIC |
| 6 | g.7583204A>T | CA362689748 | DSP | c.4613A>T (p.Tyr1538Phe) c.5942A>T (p.Tyr1981Phe) c.4145A>T (p.Tyr1382Phe) | |
| 6 | g.7583205T>A | CA362689750 | DSP | c.4614T>A (p.Tyr1538Ter) c.5943T>A (p.Tyr1981Ter) c.4146T>A (p.Tyr1382Ter) | |
| 6 | g.7583205T>C | CA448715556 | DSP | c.4614T>C (p.Tyr1538=) c.5943T>C (p.Tyr1981=) c.4146T>C (p.Tyr1382=) | dbSNP |
| 6 | g.7583205T>G | CA362689751 | DSP | c.4614T>G (p.Tyr1538Ter) c.5943T>G (p.Tyr1981Ter) c.4146T>G (p.Tyr1382Ter) | |
| 6 | g.7583205T= | CA1608607530 | DSP | c.4614T= (p.Tyr1538=) c.5943T= (p.Tyr1981=) c.4146T= (p.Tyr1382=) | |
| 6 | g.7583205dup | CA2573140814 | DSP | c.4614dup (p.Glu1539Ter) c.5943dup (p.Glu1982Ter) c.4146dup (p.Glu1383Ter) | ClinVar dbSNP |
| 6 | g.7583206G>A | CA362689752 | DSP | c.4615G>A (p.Glu1539Lys) c.5944G>A (p.Glu1982Lys) c.4147G>A (p.Glu1383Lys) | |
| 6 | g.7583206G>C | CA362689753 | DSP | c.4615G>C (p.Glu1539Gln) c.5944G>C (p.Glu1982Gln) c.4147G>C (p.Glu1383Gln) | |
| 6 | g.7583206G>T | CA362689754 | DSP | c.4615G>T (p.Glu1539Ter) c.5944G>T (p.Glu1982Ter) c.4147G>T (p.Glu1383Ter) | COSMIC |
| 6 | g.7583207A>C | CA362689755 | DSP | c.4616A>C (p.Glu1539Ala) c.5945A>C (p.Glu1982Ala) c.4148A>C (p.Glu1383Ala) | |
| 6 | g.7583207A>G | CA362689756 | DSP | c.4616A>G (p.Glu1539Gly) c.5945A>G (p.Glu1982Gly) c.4148A>G (p.Glu1383Gly) | |
| 6 | g.7583207A>T | CA362689757 | DSP | c.4616A>T (p.Glu1539Val) c.5945A>T (p.Glu1982Val) c.4148A>T (p.Glu1383Val) | |
| 6 | g.7583208G>A | CA448715557 | DSP | c.4617G>A (p.Glu1539=) c.5946G>A (p.Glu1982=) c.4149G>A (p.Glu1383=) | |
| 6 | g.7583208G>C | CA362689758 | DSP | c.4617G>C (p.Glu1539Asp) c.5946G>C (p.Glu1982Asp) c.4149G>C (p.Glu1383Asp) | |
| 6 | g.7583208G>T | CA362689759 | DSP | c.4617G>T (p.Glu1539Asp) c.5946G>T (p.Glu1982Asp) c.4149G>T (p.Glu1383Asp) | |
| 6 | g.7583209T>A | CA362689760 | DSP | c.4618T>A (p.Cys1540Ser) c.5947T>A (p.Cys1983Ser) c.4150T>A (p.Cys1384Ser) | |
| 6 | g.7583209T>C | CA362689761 | DSP | c.4618T>C (p.Cys1540Arg) c.5947T>C (p.Cys1983Arg) c.4150T>C (p.Cys1384Arg) | gnomAD v4 |
| 6 | g.7583209T>G | CA362689762 | DSP | c.4618T>G (p.Cys1540Gly) c.5947T>G (p.Cys1983Gly) c.4150T>G (p.Cys1384Gly) | |
| 6 | g.7583210G>A | CA133974011 | DSP | c.4619G>A (p.Cys1540Tyr) c.5948G>A (p.Cys1983Tyr) c.4151G>A (p.Cys1384Tyr) | dbSNP gnomAD v4 |
| 6 | g.7583210G>C | CA362689764 | DSP | c.4619G>C (p.Cys1540Ser) c.5948G>C (p.Cys1983Ser) c.4151G>C (p.Cys1384Ser) | |
| 6 | g.7583210G= | CA1608607534 | DSP | c.4619G= (p.Cys1540=) c.5948G= (p.Cys1983=) c.4151G= (p.Cys1384=) | |
| 6 | g.7583210G>T | CA362689763 | DSP | c.4619G>T (p.Cys1540Phe) c.5948G>T (p.Cys1983Phe) c.4151G>T (p.Cys1384Phe) | |
| 6 | g.7583211T>A | CA362689765 | DSP | c.4620T>A (p.Cys1540Ter) c.5949T>A (p.Cys1983Ter) c.4152T>A (p.Cys1384Ter) | |
| 6 | g.7583211T>C | CA448715558 | DSP | c.4620T>C (p.Cys1540=) c.5949T>C (p.Cys1983=) c.4152T>C (p.Cys1384=) | |
| 6 | g.7583211T>G | CA362689766 | DSP | c.4620T>G (p.Cys1540Trp) c.5949T>G (p.Cys1983Trp) c.4152T>G (p.Cys1384Trp) | |
| 6 | g.7583212C>A | CA362689767 | DSP | c.4621C>A (p.Gln1541Lys) c.5950C>A (p.Gln1984Lys) c.4153C>A (p.Gln1385Lys) | |
| 6 | g.7583212C>G | CA362689768 | DSP | c.4621C>G (p.Gln1541Glu) c.5950C>G (p.Gln1984Glu) c.4153C>G (p.Gln1385Glu) | COSMIC |
| 6 | g.7583212C>T | CA362689769 | DSP | c.4621C>T (p.Gln1541Ter) c.5950C>T (p.Gln1984Ter) c.4153C>T (p.Gln1385Ter) | |
| 6 | g.7583213A= | CA1608607539 | DSP | c.4622A= (p.Gln1541=) c.5951A= (p.Gln1984=) c.4154A= (p.Gln1385=) | |
| 6 | g.7583213A>C | CA362689770 | DSP | c.4622A>C (p.Gln1541Pro) c.5951A>C (p.Gln1984Pro) c.4154A>C (p.Gln1385Pro) | |
| 6 | g.7583213A>G | CA362689771 | DSP | c.4622A>G (p.Gln1541Arg) c.5951A>G (p.Gln1984Arg) c.4154A>G (p.Gln1385Arg) | |
| 6 | g.7583213A>T | CA046112 | DSP | c.4622A>T (p.Gln1541Leu) c.5951A>T (p.Gln1984Leu) c.4154A>T (p.Gln1385Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583214G>A | CA448715559 | DSP | c.4623G>A (p.Gln1541=) c.5952G>A (p.Gln1984=) c.4155G>A (p.Gln1385=) | gnomAD v4 |