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 |
|---|---|---|---|---|---|
| 3 | g.122275865G>A | CA435424828 | CASR | c.1378-6248G>A (n.1378-6248G>A) c.1431G>A (p.Val477=) c.948G>A (p.Val316=) c.843G>A (p.Val281=) | |
| 3 | g.122275865G>C | CA435424827 | CASR | c.1378-6248G>C (n.1378-6248G>C) c.1431G>C (p.Val477=) c.948G>C (p.Val316=) c.843G>C (p.Val281=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122275865G= | CA1397883112 | CASR | c.1378-6248G= (n.1378-6248G=) c.1431G= (p.Val477=) c.948G= (p.Val316=) c.843G= (p.Val281=) | |
| 3 | g.122275865G>T | CA435424826 | CASR | c.1378-6248G>T (n.1378-6248G>T) c.1431G>T (p.Val477=) c.948G>T (p.Val316=) c.843G>T (p.Val281=) | |
| 3 | g.122275866A>C | CA354154989 | CASR | c.1378-6247A>C (n.1378-6247A>C) c.1432A>C (p.Thr478Pro) c.949A>C (p.Thr317Pro) c.844A>C (p.Thr282Pro) | |
| 3 | g.122275866A>G | CA354154990 | CASR | c.1378-6247A>G (n.1378-6247A>G) c.1432A>G (p.Thr478Ala) c.949A>G (p.Thr317Ala) c.844A>G (p.Thr282Ala) | gnomAD v4 |
| 3 | g.122275866A>T | CA354154991 | CASR | c.1378-6247A>T (n.1378-6247A>T) c.1432A>T (p.Thr478Ser) c.949A>T (p.Thr317Ser) c.844A>T (p.Thr282Ser) | |
| 3 | g.122275867C>A | CA354154994 | CASR | c.1378-6246C>A (n.1378-6246C>A) c.1433C>A (p.Thr478Asn) c.950C>A (p.Thr317Asn) c.845C>A (p.Thr282Asn) | |
| 3 | g.122275867C>G | CA354154996 | CASR | c.1378-6246C>G (n.1378-6246C>G) c.1433C>G (p.Thr478Ser) c.950C>G (p.Thr317Ser) c.845C>G (p.Thr282Ser) | |
| 3 | g.122275867C>T | CA354154997 | CASR | c.1378-6246C>T (n.1378-6246C>T) c.1433C>T (p.Thr478Ile) c.950C>T (p.Thr317Ile) c.845C>T (p.Thr282Ile) | gnomAD v4 |
| 3 | g.122275868C>A | CA435424835 | CASR | c.1378-6245C>A (n.1378-6245C>A) c.1434C>A (p.Thr478=) c.951C>A (p.Thr317=) c.846C>A (p.Thr282=) | dbSNP |
| 3 | g.122275868C= | CA1397883113 | CASR | c.1378-6245C= (n.1378-6245C=) c.1434C= (p.Thr478=) c.951C= (p.Thr317=) c.846C= (p.Thr282=) | |
| 3 | g.122275868C>G | CA435424836 | CASR | c.1378-6245C>G (n.1378-6245C>G) c.1434C>G (p.Thr478=) c.951C>G (p.Thr317=) c.846C>G (p.Thr282=) | |
| 3 | g.122275868C>T | CA435424837 | CASR | c.1378-6245C>T (n.1378-6245C>T) c.1434C>T (p.Thr478=) c.951C>T (p.Thr317=) c.846C>T (p.Thr282=) | |
| 3 | g.122275869T>A | CA354154999 | CASR | c.1378-6244T>A (n.1378-6244T>A) c.1435T>A (p.Phe479Ile) c.952T>A (p.Phe318Ile) c.847T>A (p.Phe283Ile) | |
| 3 | g.122275869T>C | CA82745923 | CASR | c.1378-6244T>C (n.1378-6244T>C) c.1435T>C (p.Phe479Leu) c.952T>C (p.Phe318Leu) c.847T>C (p.Phe283Leu) | dbSNP |
| 3 | g.122275869T>G | CA354155003 | CASR | c.1378-6244T>G (n.1378-6244T>G) c.1435T>G (p.Phe479Val) c.952T>G (p.Phe318Val) c.847T>G (p.Phe283Val) | |
| 3 | g.122275869T= | CA1397883114 | CASR | c.1378-6244T= (n.1378-6244T=) c.1435T= (p.Phe479=) c.952T= (p.Phe318=) c.847T= (p.Phe283=) | |
| 3 | g.122275870T>A | CA354155005 | CASR | c.1378-6243T>A (n.1378-6243T>A) c.1436T>A (p.Phe479Tyr) c.953T>A (p.Phe318Tyr) c.848T>A (p.Phe283Tyr) | |
| 3 | g.122275870T>C | CA354155008 | CASR | c.1378-6243T>C (n.1378-6243T>C) c.1436T>C (p.Phe479Ser) c.953T>C (p.Phe318Ser) c.848T>C (p.Phe283Ser) | |
| 3 | g.122275870T>G | CA354155010 | CASR | c.1378-6243T>G (n.1378-6243T>G) c.1436T>G (p.Phe479Cys) c.953T>G (p.Phe318Cys) c.848T>G (p.Phe283Cys) | |
| 3 | g.122275871T>A | CA354155014 | CASR | c.1378-6242T>A (n.1378-6242T>A) c.1437T>A (p.Phe479Leu) c.954T>A (p.Phe318Leu) c.849T>A (p.Phe283Leu) | |
| 3 | g.122275871T>C | CA2569658 | CASR | c.1378-6242T>C (n.1378-6242T>C) c.1437T>C (p.Phe479=) c.954T>C (p.Phe318=) c.849T>C (p.Phe283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122275871T>G | CA354155012 | CASR | c.1378-6242T>G (n.1378-6242T>G) c.1437T>G (p.Phe479Leu) c.954T>G (p.Phe318Leu) c.849T>G (p.Phe283Leu) | |
| 3 | g.122275871T= | CA1397883115 | CASR | c.1378-6242T= (n.1378-6242T=) c.1437T= (p.Phe479=) c.954T= (p.Phe318=) c.849T= (p.Phe283=) | |
| 3 | g.122275872G>A | CA354155019 | CASR | c.1378-6241G>A (n.1378-6241G>A) c.1438G>A (p.Asp480Asn) c.955G>A (p.Asp319Asn) c.850G>A (p.Asp284Asn) | |
| 3 | g.122275872G>C | CA354155018 | CASR | c.1378-6241G>C (n.1378-6241G>C) c.1438G>C (p.Asp480His) c.955G>C (p.Asp319His) c.850G>C (p.Asp284His) | |
| 3 | g.122275872G>T | CA354155022 | CASR | c.1378-6241G>T (n.1378-6241G>T) c.1438G>T (p.Asp480Tyr) c.955G>T (p.Asp319Tyr) c.850G>T (p.Asp284Tyr) | |
| 3 | g.122275873A= | CA1397883116 | CASR | c.1378-6240A= (n.1378-6240A=) c.1439A= (p.Asp480=) c.956A= (p.Asp319=) c.851A= (p.Asp284=) | |
| 3 | g.122275873A>C | CA354155025 | CASR | c.1378-6240A>C (n.1378-6240A>C) c.1439A>C (p.Asp480Ala) c.956A>C (p.Asp319Ala) c.851A>C (p.Asp284Ala) | |
| 3 | g.122275873A>G | CA354155028 | CASR | c.1378-6240A>G (n.1378-6240A>G) c.1439A>G (p.Asp480Gly) c.956A>G (p.Asp319Gly) c.851A>G (p.Asp284Gly) | |
| 3 | g.122275873A>T | CA354155026 | CASR | c.1378-6240A>T (n.1378-6240A>T) c.1439A>T (p.Asp480Val) c.956A>T (p.Asp319Val) c.851A>T (p.Asp284Val) | ClinVar dbSNP |
| 3 | g.122275874T>A | CA354155030 | CASR | c.1378-6239T>A (n.1378-6239T>A) c.1440T>A (p.Asp480Glu) c.957T>A (p.Asp319Glu) c.852T>A (p.Asp284Glu) | ClinVar |
| 3 | g.122275874T>C | CA435424848 | CASR | c.1378-6239T>C (n.1378-6239T>C) c.1440T>C (p.Asp480=) c.957T>C (p.Asp319=) c.852T>C (p.Asp284=) | |
| 3 | g.122275874T>G | CA354155033 | CASR | c.1378-6239T>G (n.1378-6239T>G) c.1440T>G (p.Asp480Glu) c.957T>G (p.Asp319Glu) c.852T>G (p.Asp284Glu) | |
| 3 | g.122275875G>A | CA354155035 | CASR | c.1378-6238G>A (n.1378-6238G>A) c.1441G>A (p.Glu481Lys) c.958G>A (p.Glu320Lys) c.853G>A (p.Glu285Lys) | |
| 3 | g.122275875G>C | CA354155039 | CASR | c.1378-6238G>C (n.1378-6238G>C) c.1441G>C (p.Glu481Gln) c.958G>C (p.Glu320Gln) c.853G>C (p.Glu285Gln) | |
| 3 | g.122275875G>T | CA354155037 | CASR | c.1378-6238G>T (n.1378-6238G>T) c.1441G>T (p.Glu481Ter) c.958G>T (p.Glu320Ter) c.853G>T (p.Glu285Ter) | |
| 3 | g.122275876A>C | CA354155041 | CASR | c.1378-6237A>C (n.1378-6237A>C) c.1442A>C (p.Glu481Ala) c.959A>C (p.Glu320Ala) c.854A>C (p.Glu285Ala) | gnomAD v4 |
| 3 | g.122275876A>G | CA354155044 | CASR | c.1378-6237A>G (n.1378-6237A>G) c.1442A>G (p.Glu481Gly) c.959A>G (p.Glu320Gly) c.854A>G (p.Glu285Gly) | ClinVar |
| 3 | g.122275876A>T | CA354155043 | CASR | c.1378-6237A>T (n.1378-6237A>T) c.1442A>T (p.Glu481Val) c.959A>T (p.Glu320Val) c.854A>T (p.Glu285Val) | |
| 3 | g.122275877G>A | CA435424852 | CASR | c.1378-6236G>A (n.1378-6236G>A) c.1443G>A (p.Glu481=) c.960G>A (p.Glu320=) c.855G>A (p.Glu285=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122275877G>C | CA354155046 | CASR | c.1378-6236G>C (n.1378-6236G>C) c.1443G>C (p.Glu481Asp) c.960G>C (p.Glu320Asp) c.855G>C (p.Glu285Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122275877G= | CA1397883117 | CASR | c.1378-6236G= (n.1378-6236G=) c.1443G= (p.Glu481=) c.960G= (p.Glu320=) c.855G= (p.Glu285=) | |
| 3 | g.122275877G>T | CA354155048 | CASR | c.1378-6236G>T (n.1378-6236G>T) c.1443G>T (p.Glu481Asp) c.960G>T (p.Glu320Asp) c.855G>T (p.Glu285Asp) | |
| 3 | g.122275881_122275882insTTGGGTGTGTTTGGTTGTGTG | CA2758179101 | CASR | c.1378-6232_1378-6231insTTGGGTGTGTTTGGTTGTGTG (n.1378-6232_1378-6231insTTGGGTGTGTTTGGTTGTGTG) c.1447_1448insTTGGGTGTGTTTGGTTGTGTG (p.Cys482_Gly483insValGlyCysValTrpLeuCys) c.964_965insTTGGGTGTGTTTGGTTGTGTG (p.Cys321_Gly322insValGlyCysValTrpLeuCys) c.859_860insTTGGGTGTGTTTGGTTGTGTG (p.Cys286_Gly287insValGlyCysValTrpLeuCys) | |
| 3 | g.122275878T>A | CA2569659 | CASR | c.1378-6235T>A (n.1378-6235T>A) c.1444T>A (p.Cys482Ser) c.961T>A (p.Cys321Ser) c.856T>A (p.Cys286Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122275878T>C | CA354155052 | CASR | c.1378-6235T>C (n.1378-6235T>C) c.1444T>C (p.Cys482Arg) c.961T>C (p.Cys321Arg) c.856T>C (p.Cys286Arg) | ClinVar dbSNP |
| 3 | g.122275878T>G | CA354155054 | CASR | c.1378-6235T>G (n.1378-6235T>G) c.1444T>G (p.Cys482Gly) c.961T>G (p.Cys321Gly) c.856T>G (p.Cys286Gly) | ClinVar |
| 3 | g.122275878T= | CA1397883118 | CASR | c.1378-6235T= (n.1378-6235T=) c.1444T= (p.Cys482=) c.961T= (p.Cys321=) c.856T= (p.Cys286=) |