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.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7583362G>A | CA133974331 | DSP | c.4771G>A (p.Ala1591Thr) c.6100G>A (p.Ala2034Thr) c.4303G>A (p.Ala1435Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583362G>C | CA362690076 | DSP | c.4771G>C (p.Ala1591Pro) c.6100G>C (p.Ala2034Pro) c.4303G>C (p.Ala1435Pro) | |
| 6 | g.7583362G= | CA1608607915 | DSP | c.4771G= (p.Ala1591=) c.6100G= (p.Ala2034=) c.4303G= (p.Ala1435=) | |
| 6 | g.7583362G>T | CA362690075 | DSP | c.4771G>T (p.Ala1591Ser) c.6100G>T (p.Ala2034Ser) c.4303G>T (p.Ala1435Ser) | |
| 6 | g.7583363C>A | CA362690077 | DSP | c.4772C>A (p.Ala1591Asp) c.6101C>A (p.Ala2034Asp) c.4304C>A (p.Ala1435Asp) | |
| 6 | g.7583363C>G | CA362690078 | DSP | c.4772C>G (p.Ala1591Gly) c.6101C>G (p.Ala2034Gly) c.4304C>G (p.Ala1435Gly) | gnomAD v4 |
| 6 | g.7583363C>T | CA362690079 | DSP | c.4772C>T (p.Ala1591Val) c.6101C>T (p.Ala2034Val) c.4304C>T (p.Ala1435Val) | |
| 6 | g.7583364C>A | CA448715763 | DSP | c.4773C>A (p.Ala1591=) c.6102C>A (p.Ala2034=) c.4305C>A (p.Ala1435=) | |
| 6 | g.7583364C>G | CA448715762 | DSP | c.4773C>G (p.Ala1591=) c.6102C>G (p.Ala2034=) c.4305C>G (p.Ala1435=) | |
| 6 | g.7583364C>T | CA448715760 | DSP | c.4773C>T (p.Ala1591=) c.6102C>T (p.Ala2034=) c.4305C>T (p.Ala1435=) | |
| 6 | g.7583365A= | CA1608607921 | DSP | c.4774A= (p.Lys1592=) c.6103A= (p.Lys2035=) c.4306A= (p.Lys1436=) | |
| 6 | g.7583365A>C | CA362690080 | DSP | c.4774A>C (p.Lys1592Gln) c.6103A>C (p.Lys2035Gln) c.4306A>C (p.Lys1436Gln) | |
| 6 | g.7583365A>G | CA362690081 | DSP | c.4774A>G (p.Lys1592Glu) c.6103A>G (p.Lys2035Glu) c.4306A>G (p.Lys1436Glu) | dbSNP |
| 6 | g.7583365A>T | CA362690082 | DSP | c.4774A>T (p.Lys1592Ter) c.6103A>T (p.Lys2035Ter) c.4306A>T (p.Lys1436Ter) | |
| 6 | g.7583366A>C | CA362690083 | DSP | c.4775A>C (p.Lys1592Thr) c.6104A>C (p.Lys2035Thr) c.4307A>C (p.Lys1436Thr) | ClinVar |
| 6 | g.7583366A>G | CA362690084 | DSP | c.4775A>G (p.Lys1592Arg) c.6104A>G (p.Lys2035Arg) c.4307A>G (p.Lys1436Arg) | |
| 6 | g.7583366A>T | CA362690085 | DSP | c.4775A>T (p.Lys1592Met) c.6104A>T (p.Lys2035Met) c.4307A>T (p.Lys1436Met) | |
| 6 | g.7583367G>A | CA448715766 | DSP | c.4776G>A (p.Lys1592=) c.6105G>A (p.Lys2035=) c.4308G>A (p.Lys1436=) | ClinVar dbSNP |
| 6 | g.7583367G>C | CA362690086 | DSP | c.4776G>C (p.Lys1592Asn) c.6105G>C (p.Lys2035Asn) c.4308G>C (p.Lys1436Asn) | |
| 6 | g.7583367G>T | CA362690087 | DSP | c.4776G>T (p.Lys1592Asn) c.6105G>T (p.Lys2035Asn) c.4308G>T (p.Lys1436Asn) | |
| 6 | g.7583368A>C | CA448715768 | DSP | c.4777A>C (p.Arg1593=) c.6106A>C (p.Arg2036=) c.4309A>C (p.Arg1437=) | |
| 6 | g.7583368A>G | CA362690088 | DSP | c.4777A>G (p.Arg1593Gly) c.6106A>G (p.Arg2036Gly) c.4309A>G (p.Arg1437Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583368A>T | CA362690089 | DSP | c.4777A>T (p.Arg1593Ter) c.6106A>T (p.Arg2036Ter) c.4309A>T (p.Arg1437Ter) | |
| 6 | g.7583369G>A | CA362690090 | DSP | c.4778G>A (p.Arg1593Lys) c.6107G>A (p.Arg2036Lys) c.4310G>A (p.Arg1437Lys) | |
| 6 | g.7583369G>C | CA362690092 | DSP | c.4778G>C (p.Arg1593Thr) c.6107G>C (p.Arg2036Thr) c.4310G>C (p.Arg1437Thr) | |
| 6 | g.7583369G>T | CA362690091 | DSP | c.4778G>T (p.Arg1593Ile) c.6107G>T (p.Arg2036Ile) c.4310G>T (p.Arg1437Ile) | |
| 6 | g.7583370A>C | CA362690093 | DSP | c.4779A>C (p.Arg1593Ser) c.6108A>C (p.Arg2036Ser) c.4311A>C (p.Arg1437Ser) | |
| 6 | g.7583370A>G | CA448715771 | DSP | c.4779A>G (p.Arg1593=) c.6108A>G (p.Arg2036=) c.4311A>G (p.Arg1437=) | |
| 6 | g.7583370A>T | CA362690094 | DSP | c.4779A>T (p.Arg1593Ser) c.6108A>T (p.Arg2036Ser) c.4311A>T (p.Arg1437Ser) | |
| 6 | g.7583371A>C | CA362690095 | DSP | c.4780A>C (p.Lys1594Gln) c.6109A>C (p.Lys2037Gln) c.4312A>C (p.Lys1438Gln) | |
| 6 | g.7583371A>G | CA362690096 | DSP | c.4780A>G (p.Lys1594Glu) c.6109A>G (p.Lys2037Glu) c.4312A>G (p.Lys1438Glu) | |
| 6 | g.7583371A>T | CA362690097 | DSP | c.4780A>T (p.Lys1594Ter) c.6109A>T (p.Lys2037Ter) c.4312A>T (p.Lys1438Ter) | |
| 6 | g.7583372A>C | CA362690098 | DSP | c.4781A>C (p.Lys1594Thr) c.6110A>C (p.Lys2037Thr) c.4313A>C (p.Lys1438Thr) | |
| 6 | g.7583372A>G | CA362690099 | DSP | c.4781A>G (p.Lys1594Arg) c.6110A>G (p.Lys2037Arg) c.4313A>G (p.Lys1438Arg) | |
| 6 | g.7583372A>T | CA362690100 | DSP | c.4781A>T (p.Lys1594Met) c.6110A>T (p.Lys2037Met) c.4313A>T (p.Lys1438Met) | |
| 6 | g.7583373G>A | CA448715773 | DSP | c.4782G>A (p.Lys1594=) c.6111G>A (p.Lys2037=) c.4314G>A (p.Lys1438=) | |
| 6 | g.7583373G>C | CA362690101 | DSP | c.4782G>C (p.Lys1594Asn) c.6111G>C (p.Lys2037Asn) c.4314G>C (p.Lys1438Asn) | |
| 6 | g.7583373G>T | CA362690102 | DSP | c.4782G>T (p.Lys1594Asn) c.6111G>T (p.Lys2037Asn) c.4314G>T (p.Lys1438Asn) | dbSNP |
| 6 | g.7583374A= | CA1608607930 | DSP | c.4783A= (p.Lys1595=) c.6112A= (p.Lys2038=) c.4315A= (p.Lys1439=) | |
| 6 | g.7583374A>C | CA046904 | DSP | c.4783A>C (p.Lys1595Gln) c.6112A>C (p.Lys2038Gln) c.4315A>C (p.Lys1439Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583374A>G | CA362690103 | DSP | c.4783A>G (p.Lys1595Glu) c.6112A>G (p.Lys2038Glu) c.4315A>G (p.Lys1439Glu) | COSMIC |
| 6 | g.7583374A>T | CA362690104 | DSP | c.4783A>T (p.Lys1595Ter) c.6112A>T (p.Lys2038Ter) c.4315A>T (p.Lys1439Ter) | |
| 6 | g.7583375A>C | CA362690106 | DSP | c.4784A>C (p.Lys1595Thr) c.6113A>C (p.Lys2038Thr) c.4316A>C (p.Lys1439Thr) | |
| 6 | g.7583375A>G | CA362690107 | DSP | c.4784A>G (p.Lys1595Arg) c.6113A>G (p.Lys2038Arg) c.4316A>G (p.Lys1439Arg) | |
| 6 | g.7583375A>T | CA362690105 | DSP | c.4784A>T (p.Lys1595Ile) c.6113A>T (p.Lys2038Ile) c.4316A>T (p.Lys1439Ile) | |
| 6 | g.7583376A>C | CA362690108 | DSP | c.4785A>C (p.Lys1595Asn) c.6114A>C (p.Lys2038Asn) c.4317A>C (p.Lys1439Asn) |