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.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=) | |
| 3 | g.122275879G>A | CA2569660 | CASR | c.1378-6234G>A (n.1378-6234G>A) c.1445G>A (p.Cys482Tyr) c.962G>A (p.Cys321Tyr) c.857G>A (p.Cys286Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122275879G>C | CA354155056 | CASR | c.1378-6234G>C (n.1378-6234G>C) c.1445G>C (p.Cys482Ser) c.962G>C (p.Cys321Ser) c.857G>C (p.Cys286Ser) | |
| 3 | g.122275879G= | CA1397883119 | CASR | c.1378-6234G= (n.1378-6234G=) c.1445G= (p.Cys482=) c.962G= (p.Cys321=) c.857G= (p.Cys286=) | |
| 3 | g.122275879G>T | CA354155059 | CASR | c.1378-6234G>T (n.1378-6234G>T) c.1445G>T (p.Cys482Phe) c.962G>T (p.Cys321Phe) c.857G>T (p.Cys286Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122275880T>A | CA354155066 | CASR | c.1378-6233T>A (n.1378-6233T>A) c.1446T>A (p.Cys482Ter) c.963T>A (p.Cys321Ter) c.858T>A (p.Cys286Ter) | |
| 3 | g.122275880T>C | CA435424857 | CASR | c.1378-6233T>C (n.1378-6233T>C) c.1446T>C (p.Cys482=) c.963T>C (p.Cys321=) c.858T>C (p.Cys286=) | ClinVar gnomAD v4 |
| 3 | g.122275880T>G | CA354155067 | CASR | c.1378-6233T>G (n.1378-6233T>G) c.1446T>G (p.Cys482Trp) c.963T>G (p.Cys321Trp) c.858T>G (p.Cys286Trp) | |
| 3 | g.122275881G>A | CA354155069 | CASR | c.1378-6232G>A (n.1378-6232G>A) c.1447G>A (p.Gly483Ser) c.964G>A (p.Gly322Ser) c.859G>A (p.Gly287Ser) | dbSNP |
| 3 | g.122275881G>C | CA354155071 | CASR | c.1378-6232G>C (n.1378-6232G>C) c.1447G>C (p.Gly483Arg) c.964G>C (p.Gly322Arg) c.859G>C (p.Gly287Arg) | |
| 3 | g.122275881G>T | CA354155073 | CASR | c.1378-6232G>T (n.1378-6232G>T) c.1447G>T (p.Gly483Cys) c.964G>T (p.Gly322Cys) c.859G>T (p.Gly287Cys) | |
| 3 | g.122275882G>A | CA354155079 | CASR | c.1378-6231G>A (n.1378-6231G>A) c.1448G>A (p.Gly483Asp) c.965G>A (p.Gly322Asp) c.860G>A (p.Gly287Asp) | |
| 3 | g.122275882G>C | CA354155076 | CASR | c.1378-6231G>C (n.1378-6231G>C) c.1448G>C (p.Gly483Ala) c.965G>C (p.Gly322Ala) c.860G>C (p.Gly287Ala) | |
| 3 | g.122275882G>T | CA354155077 | CASR | c.1378-6231G>T (n.1378-6231G>T) c.1448G>T (p.Gly483Val) c.965G>T (p.Gly322Val) c.860G>T (p.Gly287Val) | |
| 3 | g.122275883T>A | CA435424864 | CASR | c.1378-6230T>A (n.1378-6230T>A) c.1449T>A (p.Gly483=) c.966T>A (p.Gly322=) c.861T>A (p.Gly287=) | |
| 3 | g.122275883T>C | CA435424865 | CASR | c.1378-6230T>C (n.1378-6230T>C) c.1449T>C (p.Gly483=) c.966T>C (p.Gly322=) c.861T>C (p.Gly287=) | ClinVar dbSNP |
| 3 | g.122275883T>G | CA2569661 | CASR | c.1378-6230T>G (n.1378-6230T>G) c.1449T>G (p.Gly483=) c.966T>G (p.Gly322=) c.861T>G (p.Gly287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122275883T= | CA1397883120 | CASR | c.1378-6230T= (n.1378-6230T=) c.1449T= (p.Gly483=) c.966T= (p.Gly322=) c.861T= (p.Gly287=) | |
| 3 | g.122275884G>A | CA354155082 | CASR | c.1378-6229G>A (n.1378-6229G>A) c.1450G>A (p.Asp484Asn) c.967G>A (p.Asp323Asn) c.862G>A (p.Asp288Asn) | |
| 3 | g.122275884G>C | CA354155084 | CASR | c.1378-6229G>C (n.1378-6229G>C) c.1450G>C (p.Asp484His) c.967G>C (p.Asp323His) c.862G>C (p.Asp288His) | |
| 3 | g.122275884G>T | CA354155086 | CASR | c.1378-6229G>T (n.1378-6229G>T) c.1450G>T (p.Asp484Tyr) c.967G>T (p.Asp323Tyr) c.862G>T (p.Asp288Tyr) | |
| 3 | g.122275885A>C | CA354155088 | CASR | c.1378-6228A>C (n.1378-6228A>C) c.1451A>C (p.Asp484Ala) c.968A>C (p.Asp323Ala) c.863A>C (p.Asp288Ala) | |
| 3 | g.122275885A>G | CA354155090 | CASR | c.1378-6228A>G (n.1378-6228A>G) c.1451A>G (p.Asp484Gly) c.968A>G (p.Asp323Gly) c.863A>G (p.Asp288Gly) | |
| 3 | g.122275885A>T | CA354155092 | CASR | c.1378-6228A>T (n.1378-6228A>T) c.1451A>T (p.Asp484Val) c.968A>T (p.Asp323Val) c.863A>T (p.Asp288Val) | |
| 3 | g.122275886C>A | CA354155093 | CASR | c.1378-6227C>A (n.1378-6227C>A) c.1452C>A (p.Asp484Glu) c.969C>A (p.Asp323Glu) c.864C>A (p.Asp288Glu) | gnomAD v4 |
| 3 | g.122275886C= | CA1397883121 | CASR | c.1378-6227C= (n.1378-6227C=) c.1452C= (p.Asp484=) c.969C= (p.Asp323=) c.864C= (p.Asp288=) |