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 |
|---|---|---|---|---|---|
| 11 | g.2166486_2166496del | CA915948011 | TH | c.1035_1045del (p.Gln346GlyfsTer12) c.*724_*734del (n.*724_*734del) c.753_763del (p.Gln252GlyfsTer12) c.*755_*765del (n.*755_*765del) c.1116_1126del (p.Gln373GlyfsTer12) c.1128_1138del (p.Gln377GlyfsTer12) c.193_203del c.329_339del n.200_210del n.584_594del c.1047_1057del (p.Gln350GlyfsTer12) | ClinVar dbSNP |
| 11 | g.2166495G>A | CA5818411 | TH | c.1032C>T (p.Phe344=) c.*721C>T (n.*721C>T) c.750C>T (p.Phe250=) c.*752C>T (n.*752C>T) c.1113C>T (p.Phe371=) c.1125C>T (p.Phe375=) c.190C>T c.326C>T n.197C>T n.581C>T c.1044C>T (p.Phe348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2166495G>C | CA379125954 | TH | c.1032C>G (p.Phe344Leu) c.*721C>G (n.*721C>G) c.750C>G (p.Phe250Leu) c.*752C>G (n.*752C>G) c.1113C>G (p.Phe371Leu) c.1125C>G (p.Phe375Leu) c.190C>G c.326C>G n.197C>G n.581C>G c.1044C>G (p.Phe348Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2166495G= | CA1948005077 | TH | c.1032C= (p.Phe344=) c.*721C= (n.*721C=) c.750C= (p.Phe250=) c.*752C= (n.*752C=) c.1113C= (p.Phe371=) c.1125C= (p.Phe375=) c.190C= c.326C= n.197C= n.581C= c.1044C= (p.Phe348=) | |
| 11 | g.2166495G>T | CA379125955 | TH | c.1032C>A (p.Phe344Leu) c.*721C>A (n.*721C>A) c.750C>A (p.Phe250Leu) c.*752C>A (n.*752C>A) c.1113C>A (p.Phe371Leu) c.1125C>A (p.Phe375Leu) c.190C>A c.326C>A n.197C>A n.581C>A c.1044C>A (p.Phe348Leu) | gnomAD v4 |
| 11 | g.2166495_2166496insTCCAGGACACTGGCCAG | CA2611961584 | TH | c.1032_1033insTGGCCAGTGTCCTGGAC (p.Ala345TrpfsTer?) c.*721_*722insTGGCCAGTGTCCTGGAC (n.*721_*722insTGGCCAGTGTCCTGGAC) c.750_751insTGGCCAGTGTCCTGGAC (p.Ala251TrpfsTer?) c.*752_*753insTGGCCAGTGTCCTGGAC (n.*752_*753insTGGCCAGTGTCCTGGAC) c.1113_1114insTGGCCAGTGTCCTGGAC (p.Ala372TrpfsTer?) c.1125_1126insTGGCCAGTGTCCTGGAC (p.Ala376TrpfsTer?) c.190_191insTGGCCAGTGTCCTGGAC c.326_327insTGGCCAGTGTCCTGGAC n.197_198insTGGCCAGTGTCCTGGAC n.581_582insTGGCCAGTGTCCTGGAC c.1044_1045insTGGCCAGTGTCCTGGAC (p.Ala349TrpfsTer?) | gnomAD v4 |
| 11 | g.2166496A>C | CA379125956 | TH | c.1031T>G (p.Phe344Cys) c.*720T>G (n.*720T>G) c.749T>G (p.Phe250Cys) c.*751T>G (n.*751T>G) c.1112T>G (p.Phe371Cys) c.1124T>G (p.Phe375Cys) c.189T>G c.325T>G n.196T>G n.580T>G c.1043T>G (p.Phe348Cys) | |
| 11 | g.2166496A>G | CA379125957 | TH | c.1031T>C (p.Phe344Ser) c.*720T>C (n.*720T>C) c.749T>C (p.Phe250Ser) c.*751T>C (n.*751T>C) c.1112T>C (p.Phe371Ser) c.1124T>C (p.Phe375Ser) c.189T>C c.325T>C n.196T>C n.580T>C c.1043T>C (p.Phe348Ser) | |
| 11 | g.2166496A>T | CA379125958 | TH | c.1031T>A (p.Phe344Tyr) c.*720T>A (n.*720T>A) c.749T>A (p.Phe250Tyr) c.*751T>A (n.*751T>A) c.1112T>A (p.Phe371Tyr) c.1124T>A (p.Phe375Tyr) c.189T>A c.325T>A n.196T>A n.580T>A c.1043T>A (p.Phe348Tyr) | |
| 11 | g.2166497A>C | CA379125959 | TH | c.1030T>G (p.Phe344Val) c.*719T>G (n.*719T>G) c.748T>G (p.Phe250Val) c.*750T>G (n.*750T>G) c.1111T>G (p.Phe371Val) c.1123T>G (p.Phe375Val) c.188T>G c.324T>G n.195T>G n.579T>G c.1042T>G (p.Phe348Val) | |
| 11 | g.2166497A>G | CA379125960 | TH | c.1030T>C (p.Phe344Leu) c.*719T>C (n.*719T>C) c.748T>C (p.Phe250Leu) c.*750T>C (n.*750T>C) c.1111T>C (p.Phe371Leu) c.1123T>C (p.Phe375Leu) c.188T>C c.324T>C n.195T>C n.579T>C c.1042T>C (p.Phe348Leu) | gnomAD v4 |
| 11 | g.2166497A>T | CA379125961 | TH | c.1030T>A (p.Phe344Ile) c.*719T>A (n.*719T>A) c.748T>A (p.Phe250Ile) c.*750T>A (n.*750T>A) c.1111T>A (p.Phe371Ile) c.1123T>A (p.Phe375Ile) c.188T>A c.324T>A n.195T>A n.579T>A c.1042T>A (p.Phe348Ile) | |
| 11 | g.2166498G>A | CA472034668 | TH | c.1029C>T (p.Thr343=) c.*718C>T (n.*718C>T) c.747C>T (p.Thr249=) c.*749C>T (n.*749C>T) c.1110C>T (p.Thr370=) c.1122C>T (p.Thr374=) c.187C>T c.323C>T n.194C>T n.578C>T c.1041C>T (p.Thr347=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2166498G>C | CA472034670 | TH | c.1029C>G (p.Thr343=) c.*718C>G (n.*718C>G) c.747C>G (p.Thr249=) c.*749C>G (n.*749C>G) c.1110C>G (p.Thr370=) c.1122C>G (p.Thr374=) c.187C>G c.323C>G n.194C>G n.578C>G c.1041C>G (p.Thr347=) | |
| 11 | g.2166498G= | CA1948005079 | TH | c.1029C= (p.Thr343=) c.*718C= (n.*718C=) c.747C= (p.Thr249=) c.*749C= (n.*749C=) c.1110C= (p.Thr370=) c.1122C= (p.Thr374=) c.187C= c.323C= n.194C= n.578C= c.1041C= (p.Thr347=) | |
| 11 | g.2166498G>T | CA472034671 | TH | c.1029C>A (p.Thr343=) c.*718C>A (n.*718C>A) c.747C>A (p.Thr249=) c.*749C>A (n.*749C>A) c.1110C>A (p.Thr370=) c.1122C>A (p.Thr374=) c.187C>A c.323C>A n.194C>A n.578C>A c.1041C>A (p.Thr347=) | gnomAD v4 |
| 11 | g.2166499G>A | CA379125964 | TH | c.1028C>T (p.Thr343Ile) c.*717C>T (n.*717C>T) c.746C>T (p.Thr249Ile) c.*748C>T (n.*748C>T) c.1109C>T (p.Thr370Ile) c.1121C>T (p.Thr374Ile) c.186C>T c.322C>T n.193C>T n.577C>T c.1040C>T (p.Thr347Ile) | gnomAD v4 |
| 11 | g.2166499G>C | CA379125962 | TH | c.1028C>G (p.Thr343Ser) c.*717C>G (n.*717C>G) c.746C>G (p.Thr249Ser) c.*748C>G (n.*748C>G) c.1109C>G (p.Thr370Ser) c.1121C>G (p.Thr374Ser) c.186C>G c.322C>G n.193C>G n.577C>G c.1040C>G (p.Thr347Ser) | gnomAD v4 |
| 11 | g.2166499G>T | CA379125963 | TH | c.1028C>A (p.Thr343Asn) c.*717C>A (n.*717C>A) c.746C>A (p.Thr249Asn) c.*748C>A (n.*748C>A) c.1109C>A (p.Thr370Asn) c.1121C>A (p.Thr374Asn) c.186C>A c.322C>A n.193C>A n.577C>A c.1040C>A (p.Thr347Asn) | gnomAD v4 |
| 11 | g.2166500T>A | CA379125965 | TH | c.1027A>T (p.Thr343Ser) c.*716A>T (n.*716A>T) c.745A>T (p.Thr249Ser) c.*747A>T (n.*747A>T) c.1108A>T (p.Thr370Ser) c.1120A>T (p.Thr374Ser) c.185A>T c.321A>T n.192A>T n.576A>T c.1039A>T (p.Thr347Ser) | |
| 11 | g.2166500T>C | CA379125966 | TH | c.1027A>G (p.Thr343Ala) c.*716A>G (n.*716A>G) c.745A>G (p.Thr249Ala) c.*747A>G (n.*747A>G) c.1108A>G (p.Thr370Ala) c.1120A>G (p.Thr374Ala) c.185A>G c.321A>G n.192A>G n.576A>G c.1039A>G (p.Thr347Ala) | gnomAD v4 |
| 11 | g.2166500T>G | CA379125967 | TH | c.1027A>C (p.Thr343Pro) c.*716A>C (n.*716A>C) c.745A>C (p.Thr249Pro) c.*747A>C (n.*747A>C) c.1108A>C (p.Thr370Pro) c.1120A>C (p.Thr374Pro) c.185A>C c.321A>C n.192A>C n.576A>C c.1039A>C (p.Thr347Pro) | |
| 11 | g.2166501G>A | CA472034679 | TH | c.1026C>T (p.Arg342=) c.*715C>T (n.*715C>T) c.744C>T (p.Arg248=) c.*746C>T (n.*746C>T) c.1107C>T (p.Arg369=) c.1119C>T (p.Arg373=) c.184C>T c.320C>T n.191C>T n.575C>T c.1038C>T (p.Arg346=) | gnomAD v4 |
| 11 | g.2166501G>C | CA472034681 | TH | c.1026C>G (p.Arg342=) c.*715C>G (n.*715C>G) c.744C>G (p.Arg248=) c.*746C>G (n.*746C>G) c.1107C>G (p.Arg369=) c.1119C>G (p.Arg373=) c.184C>G c.320C>G n.191C>G n.575C>G c.1038C>G (p.Arg346=) | |
| 11 | g.2166501G>T | CA472034683 | TH | c.1026C>A (p.Arg342=) c.*715C>A (n.*715C>A) c.744C>A (p.Arg248=) c.*746C>A (n.*746C>A) c.1107C>A (p.Arg369=) c.1119C>A (p.Arg373=) c.184C>A c.320C>A n.191C>A n.575C>A c.1038C>A (p.Arg346=) | gnomAD v4 |
| 11 | g.2166502C>A | CA5818412 | TH | c.1025G>T (p.Arg342Leu) c.*714G>T (n.*714G>T) c.743G>T (p.Arg248Leu) c.*745G>T (n.*745G>T) c.1106G>T (p.Arg369Leu) c.1118G>T (p.Arg373Leu) c.183G>T c.319G>T n.190G>T n.574G>T c.1037G>T (p.Arg346Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2166502C= | CA1948005083 | TH | c.1025G= (p.Arg342=) c.*714G= (n.*714G=) c.743G= (p.Arg248=) c.*745G= (n.*745G=) c.1106G= (p.Arg369=) c.1118G= (p.Arg373=) c.183G= c.319G= n.190G= n.574G= c.1037G= (p.Arg346=) | |
| 11 | g.2166502C>G | CA379125968 | TH | c.1025G>C (p.Arg342Pro) c.*714G>C (n.*714G>C) c.743G>C (p.Arg248Pro) c.*745G>C (n.*745G>C) c.1106G>C (p.Arg369Pro) c.1118G>C (p.Arg373Pro) c.183G>C c.319G>C n.190G>C n.574G>C c.1037G>C (p.Arg346Pro) | |
| 11 | g.2166502C>T | CA379125969 | TH | c.1025G>A (p.Arg342His) c.*714G>A (n.*714G>A) c.743G>A (p.Arg248His) c.*745G>A (n.*745G>A) c.1106G>A (p.Arg369His) c.1118G>A (p.Arg373His) c.183G>A c.319G>A n.190G>A n.574G>A c.1037G>A (p.Arg346His) | gnomAD v4 |
| 11 | g.2166503G>A | CA5818413 | TH | c.1024C>T (p.Arg342Cys) c.*713C>T (n.*713C>T) c.742C>T (p.Arg248Cys) c.*744C>T (n.*744C>T) c.1105C>T (p.Arg369Cys) c.1117C>T (p.Arg373Cys) c.182C>T c.318C>T n.189C>T n.573C>T c.1036C>T (p.Arg346Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2166503G>C | CA216284633 | TH | c.1024C>G (p.Arg342Gly) c.*713C>G (n.*713C>G) c.742C>G (p.Arg248Gly) c.*744C>G (n.*744C>G) c.1105C>G (p.Arg369Gly) c.1117C>G (p.Arg373Gly) c.182C>G c.318C>G n.189C>G n.573C>G c.1036C>G (p.Arg346Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2166503G= | CA1948005085 | TH | c.1024C= (p.Arg342=) c.*713C= (n.*713C=) c.742C= (p.Arg248=) c.*744C= (n.*744C=) c.1105C= (p.Arg369=) c.1117C= (p.Arg373=) c.182C= c.318C= n.189C= n.573C= c.1036C= (p.Arg346=) | |
| 11 | g.2166503G>T | CA379125970 | TH | c.1024C>A (p.Arg342Ser) c.*713C>A (n.*713C>A) c.742C>A (p.Arg248Ser) c.*744C>A (n.*744C>A) c.1105C>A (p.Arg369Ser) c.1117C>A (p.Arg373Ser) c.182C>A c.318C>A n.189C>A n.573C>A c.1036C>A (p.Arg346Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2166504G>A | CA472034693 | TH | c.1023C>T (p.Asp341=) c.*712C>T (n.*712C>T) c.741C>T (p.Asp247=) c.*743C>T (n.*743C>T) c.1104C>T (p.Asp368=) c.1116C>T (p.Asp372=) c.181C>T c.317C>T n.188C>T n.572C>T c.1035C>T (p.Asp345=) | gnomAD v4 |
| 11 | g.2166504G>C | CA379125971 | TH | c.1023C>G (p.Asp341Glu) c.*712C>G (n.*712C>G) c.741C>G (p.Asp247Glu) c.*743C>G (n.*743C>G) c.1104C>G (p.Asp368Glu) c.1116C>G (p.Asp372Glu) c.181C>G c.317C>G n.188C>G n.572C>G c.1035C>G (p.Asp345Glu) | |
| 11 | g.2166504G>T | CA379125972 | TH | c.1023C>A (p.Asp341Glu) c.*712C>A (n.*712C>A) c.741C>A (p.Asp247Glu) c.*743C>A (n.*743C>A) c.1104C>A (p.Asp368Glu) c.1116C>A (p.Asp372Glu) c.181C>A c.317C>A n.188C>A n.572C>A c.1035C>A (p.Asp345Glu) | gnomAD v4 |
| 11 | g.2166505T>A | CA379125975 | TH | c.1022A>T (p.Asp341Val) c.*711A>T (n.*711A>T) c.740A>T (p.Asp247Val) c.*742A>T (n.*742A>T) c.1103A>T (p.Asp368Val) c.1115A>T (p.Asp372Val) c.180A>T c.316A>T n.187A>T n.571A>T c.1034A>T (p.Asp345Val) | |
| 11 | g.2166505T>C | CA379125974 | TH | c.1022A>G (p.Asp341Gly) c.*711A>G (n.*711A>G) c.740A>G (p.Asp247Gly) c.*742A>G (n.*742A>G) c.1103A>G (p.Asp368Gly) c.1115A>G (p.Asp372Gly) c.180A>G c.316A>G n.187A>G n.571A>G c.1034A>G (p.Asp345Gly) | |
| 11 | g.2166505T>G | CA379125973 | TH | c.1022A>C (p.Asp341Ala) c.*711A>C (n.*711A>C) c.740A>C (p.Asp247Ala) c.*742A>C (n.*742A>C) c.1103A>C (p.Asp368Ala) c.1115A>C (p.Asp372Ala) c.180A>C c.316A>C n.187A>C n.571A>C c.1034A>C (p.Asp345Ala) | |
| 11 | g.2166506C>A | CA379125976 | TH | c.1021G>T (p.Asp341Tyr) c.*710G>T (n.*710G>T) c.739G>T (p.Asp247Tyr) c.*741G>T (n.*741G>T) c.1102G>T (p.Asp368Tyr) c.1114G>T (p.Asp372Tyr) c.179G>T c.315G>T n.186G>T n.570G>T c.1033G>T (p.Asp345Tyr) | gnomAD v4 |
| 11 | g.2166506C= | CA1948005088 | TH | c.1021G= (p.Asp341=) c.*710G= (n.*710G=) c.739G= (p.Asp247=) c.*741G= (n.*741G=) c.1102G= (p.Asp368=) c.1114G= (p.Asp372=) c.179G= c.315G= n.186G= n.570G= c.1033G= (p.Asp345=) | |
| 11 | g.2166506C>G | CA379125978 | TH | c.1021G>C (p.Asp341His) c.*710G>C (n.*710G>C) c.739G>C (p.Asp247His) c.*741G>C (n.*741G>C) c.1102G>C (p.Asp368His) c.1114G>C (p.Asp372His) c.179G>C c.315G>C n.186G>C n.570G>C c.1033G>C (p.Asp345His) | gnomAD v4 |
| 11 | g.2166506C>T | CA379125977 | TH | c.1021G>A (p.Asp341Asn) c.*710G>A (n.*710G>A) c.739G>A (p.Asp247Asn) c.*741G>A (n.*741G>A) c.1102G>A (p.Asp368Asn) c.1114G>A (p.Asp372Asn) c.179G>A c.315G>A n.186G>A n.570G>A c.1033G>A (p.Asp345Asn) | dbSNP gnomAD v4 |
| 11 | g.2166507G>A | CA472413892 | TH | c.1020C>T (p.Ala340=) c.*709C>T (n.*709C>T) c.738C>T (p.Ala246=) c.*740C>T (n.*740C>T) c.1101C>T (p.Ala367=) c.1113C>T (p.Ala371=) c.178C>T c.314C>T n.185C>T n.569C>T c.1032C>T (p.Ala344=) | dbSNP gnomAD v4 |
| 11 | g.2166507G>C | CA472413893 | TH | c.1020C>G (p.Ala340=) c.*709C>G (n.*709C>G) c.738C>G (p.Ala246=) c.*740C>G (n.*740C>G) c.1101C>G (p.Ala367=) c.1113C>G (p.Ala371=) c.178C>G c.314C>G n.185C>G n.569C>G c.1032C>G (p.Ala344=) | |
| 11 | g.2166507G>T | CA472413894 | TH | c.1020C>A (p.Ala340=) c.*709C>A (n.*709C>A) c.738C>A (p.Ala246=) c.*740C>A (n.*740C>A) c.1101C>A (p.Ala367=) c.1113C>A (p.Ala371=) c.178C>A c.314C>A n.185C>A n.569C>A c.1032C>A (p.Ala344=) | gnomAD v4 |
| 11 | g.2166507_2166550delinsGGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC | CA1948005090 | TH | c.978-1_1020delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC c.*667-1_*709delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC c.696-1_738delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC c.*698-1_*740delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC c.1059-1_1101delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC c.1071-1_1113delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC c.136-1_178delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC c.272-1_314delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC n.143-1_185delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC n.527-1_569delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC c.990-1_1032delinsGGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCC | |
| 11 | g.2166508G>A | CA379125979 | TH | c.1019C>T (p.Ala340Val) c.*708C>T (n.*708C>T) c.737C>T (p.Ala246Val) c.*739C>T (n.*739C>T) c.1100C>T (p.Ala367Val) c.1112C>T (p.Ala371Val) c.177C>T c.313C>T n.184C>T n.568C>T c.1031C>T (p.Ala344Val) | gnomAD v4 |
| 11 | g.2166508G>C | CA379125980 | TH | c.1019C>G (p.Ala340Gly) c.*708C>G (n.*708C>G) c.737C>G (p.Ala246Gly) c.*739C>G (n.*739C>G) c.1100C>G (p.Ala367Gly) c.1112C>G (p.Ala371Gly) c.177C>G c.313C>G n.184C>G n.568C>G c.1031C>G (p.Ala344Gly) | |
| 11 | g.2166508G>T | CA379125981 | TH | c.1019C>A (p.Ala340Asp) c.*708C>A (n.*708C>A) c.737C>A (p.Ala246Asp) c.*739C>A (n.*739C>A) c.1100C>A (p.Ala367Asp) c.1112C>A (p.Ala371Asp) c.177C>A c.313C>A n.184C>A n.568C>A c.1031C>A (p.Ala344Asp) | gnomAD v4 |