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.7583261_7583273del | CA2580075528 | DSP | c.4670_4682del (p.Ser1557LeufsTer29) c.5999_6011del (p.Ser2000LeufsTer29) c.4202_4214del (p.Ser1401LeufsTer29) | ClinVar |
| 6 | g.7583255A>C | CA362689862 | DSP | c.4664A>C (p.Lys1555Thr) c.5993A>C (p.Lys1998Thr) c.4196A>C (p.Lys1399Thr) | |
| 6 | g.7583255A>G | CA362689860 | DSP | c.4664A>G (p.Lys1555Arg) c.5993A>G (p.Lys1998Arg) c.4196A>G (p.Lys1399Arg) | |
| 6 | g.7583255A>T | CA362689861 | DSP | c.4664A>T (p.Lys1555Met) c.5993A>T (p.Lys1998Met) c.4196A>T (p.Lys1399Met) | |
| 6 | g.7583256G>A | CA448715586 | DSP | c.4665G>A (p.Lys1555=) c.5994G>A (p.Lys1998=) c.4197G>A (p.Lys1399=) | gnomAD v4 |
| 6 | g.7583256G>C | CA362689863 | DSP | c.4665G>C (p.Lys1555Asn) c.5994G>C (p.Lys1998Asn) c.4197G>C (p.Lys1399Asn) | |
| 6 | g.7583256G>T | CA362689864 | DSP | c.4665G>T (p.Lys1555Asn) c.5994G>T (p.Lys1998Asn) c.4197G>T (p.Lys1399Asn) | |
| 6 | g.7583257A>C | CA362689865 | DSP | c.4666A>C (p.Lys1556Gln) c.5995A>C (p.Lys1999Gln) c.4198A>C (p.Lys1400Gln) | |
| 6 | g.7583257A>G | CA362689866 | DSP | c.4666A>G (p.Lys1556Glu) c.5995A>G (p.Lys1999Glu) c.4198A>G (p.Lys1400Glu) | |
| 6 | g.7583257A>T | CA362689867 | DSP | c.4666A>T (p.Lys1556Ter) c.5995A>T (p.Lys1999Ter) c.4198A>T (p.Lys1400Ter) | |
| 6 | g.7583258A= | CA1608607646 | DSP | c.4667A= (p.Lys1556=) c.5996A= (p.Lys1999=) c.4199A= (p.Lys1400=) | |
| 6 | g.7583258A>C | CA362689868 | DSP | c.4667A>C (p.Lys1556Thr) c.5996A>C (p.Lys1999Thr) c.4199A>C (p.Lys1400Thr) | |
| 6 | g.7583258A>G | CA362689869 | DSP | c.4667A>G (p.Lys1556Arg) c.5996A>G (p.Lys1999Arg) c.4199A>G (p.Lys1400Arg) | dbSNP |
| 6 | g.7583258A>T | CA362689870 | DSP | c.4667A>T (p.Lys1556Met) c.5996A>T (p.Lys1999Met) c.4199A>T (p.Lys1400Met) | |
| 6 | g.7583259G>A | CA448715588 | DSP | c.4668G>A (p.Lys1556=) c.5997G>A (p.Lys1999=) c.4200G>A (p.Lys1400=) | ClinVar gnomAD v4 |
| 6 | g.7583259G>C | CA362689871 | DSP | c.4668G>C (p.Lys1556Asn) c.5997G>C (p.Lys1999Asn) c.4200G>C (p.Lys1400Asn) | |
| 6 | g.7583259G>T | CA362689872 | DSP | c.4668G>T (p.Lys1556Asn) c.5997G>T (p.Lys1999Asn) c.4200G>T (p.Lys1400Asn) | |
| 6 | g.7583260T>A | CA362689873 | DSP | c.4669T>A (p.Ser1557Thr) c.5998T>A (p.Ser2000Thr) c.4201T>A (p.Ser1401Thr) | |
| 6 | g.7583260T>C | CA362689874 | DSP | c.4669T>C (p.Ser1557Pro) c.5998T>C (p.Ser2000Pro) c.4201T>C (p.Ser1401Pro) | |
| 6 | g.7583260T>G | CA362689875 | DSP | c.4669T>G (p.Ser1557Ala) c.5998T>G (p.Ser2000Ala) c.4201T>G (p.Ser1401Ala) | |
| 6 | g.7583260_7583262delinsTCA | CA1608607650 | DSP | c.4669_4671delinsTCA (p.Ser1557=) c.5998_6000delinsTCA (p.Ser2000=) c.4201_4203delinsTCA (p.Ser1401=) | |
| 6 | g.7583261del | CA2573140815 | DSP | c.4670del (p.Ser1557Ter) c.5999del (p.Ser2000Ter) c.4202del (p.Ser1401Ter) | ClinVar dbSNP |
| 6 | g.7583261C>A | CA362689878 | DSP | c.4670C>A (p.Ser1557Ter) c.5999C>A (p.Ser2000Ter) c.4202C>A (p.Ser1401Ter) | |
| 6 | g.7583261C>G | CA362689877 | DSP | c.4670C>G (p.Ser1557Ter) c.5999C>G (p.Ser2000Ter) c.4202C>G (p.Ser1401Ter) | |
| 6 | g.7583261C>T | CA362689876 | DSP | c.4670C>T (p.Ser1557Leu) c.5999C>T (p.Ser2000Leu) c.4202C>T (p.Ser1401Leu) | gnomAD v4 |
| 6 | g.7583261_7583262delinsG | CA913203383 | DSP | c.4670_4671delinsG (p.Ser1557TrpfsTer?) c.5999_6000delinsG (p.Ser2000TrpfsTer?) c.4202_4203delinsG (p.Ser1401TrpfsTer?) | dbSNP |
| 6 | g.7583262A>C | CA448715592 | DSP | c.4671A>C (p.Ser1557=) c.6000A>C (p.Ser2000=) c.4203A>C (p.Ser1401=) | |
| 6 | g.7583262A>G | CA448715593 | DSP | c.4671A>G (p.Ser1557=) c.6000A>G (p.Ser2000=) c.4203A>G (p.Ser1401=) | |
| 6 | g.7583262A>T | CA448715594 | DSP | c.4671A>T (p.Ser1557=) c.6000A>T (p.Ser2000=) c.4203A>T (p.Ser1401=) | |
| 6 | g.7583263G>A | CA362689879 | DSP | c.4672G>A (p.Val1558Met) c.6001G>A (p.Val2001Met) c.4204G>A (p.Val1402Met) | |
| 6 | g.7583263G>C | CA362689880 | DSP | c.4672G>C (p.Val1558Leu) c.6001G>C (p.Val2001Leu) c.4204G>C (p.Val1402Leu) | |
| 6 | g.7583263G>T | CA362689881 | DSP | c.4672G>T (p.Val1558Leu) c.6001G>T (p.Val2001Leu) c.4204G>T (p.Val1402Leu) | |
| 6 | g.7583264T>A | CA133974074 | DSP | c.4673T>A (p.Val1558Glu) c.6002T>A (p.Val2001Glu) c.4205T>A (p.Val1402Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583264T>C | CA362689882 | DSP | c.4673T>C (p.Val1558Ala) c.6002T>C (p.Val2001Ala) c.4205T>C (p.Val1402Ala) | |
| 6 | g.7583264T>G | CA362689883 | DSP | c.4673T>G (p.Val1558Gly) c.6002T>G (p.Val2001Gly) c.4205T>G (p.Val1402Gly) | ClinVar |
| 6 | g.7583264T= | CA1608607653 | DSP | c.4673T= (p.Val1558=) c.6002T= (p.Val2001=) c.4205T= (p.Val1402=) | |
| 6 | g.7583265G>A | CA448715598 | DSP | c.4674G>A (p.Val1558=) c.6003G>A (p.Val2001=) c.4206G>A (p.Val1402=) | |
| 6 | g.7583265G>C | CA448715599 | DSP | c.4674G>C (p.Val1558=) c.6003G>C (p.Val2001=) c.4206G>C (p.Val1402=) | |
| 6 | g.7583265G>T | CA448715600 | DSP | c.4674G>T (p.Val1558=) c.6003G>T (p.Val2001=) c.4206G>T (p.Val1402=) | |
| 6 | g.7583266G>A | CA362689884 | DSP | c.4675G>A (p.Glu1559Lys) c.6004G>A (p.Glu2002Lys) c.4207G>A (p.Glu1403Lys) | |
| 6 | g.7583266G>C | CA362689885 | DSP | c.4675G>C (p.Glu1559Gln) c.6004G>C (p.Glu2002Gln) c.4207G>C (p.Glu1403Gln) | |
| 6 | g.7583266G>T | CA362689886 | DSP | c.4675G>T (p.Glu1559Ter) c.6004G>T (p.Glu2002Ter) c.4207G>T (p.Glu1403Ter) | |
| 6 | g.7583267A>C | CA362689887 | DSP | c.4676A>C (p.Glu1559Ala) c.6005A>C (p.Glu2002Ala) c.4208A>C (p.Glu1403Ala) | |
| 6 | g.7583267A>G | CA362689888 | DSP | c.4676A>G (p.Glu1559Gly) c.6005A>G (p.Glu2002Gly) c.4208A>G (p.Glu1403Gly) | |
| 6 | g.7583267A>T | CA362689889 | DSP | c.4676A>T (p.Glu1559Val) c.6005A>T (p.Glu2002Val) c.4208A>T (p.Glu1403Val) | |
| 6 | g.7583268A>C | CA362689890 | DSP | c.4677A>C (p.Glu1559Asp) c.6006A>C (p.Glu2002Asp) c.4209A>C (p.Glu1403Asp) | |
| 6 | g.7583268A>G | CA448715601 | DSP | c.4677A>G (p.Glu1559=) c.6006A>G (p.Glu2002=) c.4209A>G (p.Glu1403=) |