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.2166481_2166492delinsTGCGAGAACTGC | CA1948005045 | TH | c.1035_1046delinsGCAGTTCTCGCA (p.Ala345=) c.*724_*735delinsGCAGTTCTCGCA (n.*724_*735delinsGCAGTTCTCGCA) c.753_764delinsGCAGTTCTCGCA (p.Ala251=) c.*755_*766delinsGCAGTTCTCGCA (n.*755_*766delinsGCAGTTCTCGCA) c.1116_1127delinsGCAGTTCTCGCA (p.Ala372=) c.1128_1139delinsGCAGTTCTCGCA (p.Ala376=) c.193_204delinsGCAGTTCTCGCA c.329_340delinsGCAGTTCTCGCA n.200_211delinsGCAGTTCTCGCA n.584_595delinsGCAGTTCTCGCA c.1047_1058delinsGCAGTTCTCGCA (p.Ala349=) | |
| 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.2166490T>A | CA379125942 | TH | c.1037A>T (p.Gln346Leu) c.*726A>T (n.*726A>T) c.755A>T (p.Gln252Leu) c.*757A>T (n.*757A>T) c.1118A>T (p.Gln373Leu) c.1130A>T (p.Gln377Leu) c.195A>T c.331A>T n.202A>T n.586A>T c.1049A>T (p.Gln350Leu) | gnomAD v4 |
| 11 | g.2166490T>C | CA379125943 | TH | c.1037A>G (p.Gln346Arg) c.*726A>G (n.*726A>G) c.755A>G (p.Gln252Arg) c.*757A>G (n.*757A>G) c.1118A>G (p.Gln373Arg) c.1130A>G (p.Gln377Arg) c.195A>G c.331A>G n.202A>G n.586A>G c.1049A>G (p.Gln350Arg) | gnomAD v4 |
| 11 | g.2166490T>G | CA379125944 | TH | c.1037A>C (p.Gln346Pro) c.*726A>C (n.*726A>C) c.755A>C (p.Gln252Pro) c.*757A>C (n.*757A>C) c.1118A>C (p.Gln373Pro) c.1130A>C (p.Gln377Pro) c.195A>C c.331A>C n.202A>C n.586A>C c.1049A>C (p.Gln350Pro) | |
| 11 | g.2166491G>A | CA379125945 | TH | c.1036C>T (p.Gln346Ter) c.*725C>T (n.*725C>T) c.754C>T (p.Gln252Ter) c.*756C>T (n.*756C>T) c.1117C>T (p.Gln373Ter) c.1129C>T (p.Gln377Ter) c.194C>T c.330C>T n.201C>T n.585C>T c.1048C>T (p.Gln350Ter) | ClinVar gnomAD v4 |
| 11 | g.2166491G>C | CA379125946 | TH | c.1036C>G (p.Gln346Glu) c.*725C>G (n.*725C>G) c.754C>G (p.Gln252Glu) c.*756C>G (n.*756C>G) c.1117C>G (p.Gln373Glu) c.1129C>G (p.Gln377Glu) c.194C>G c.330C>G n.201C>G n.585C>G c.1048C>G (p.Gln350Glu) | |
| 11 | g.2166491G>T | CA379125947 | TH | c.1036C>A (p.Gln346Lys) c.*725C>A (n.*725C>A) c.754C>A (p.Gln252Lys) c.*756C>A (n.*756C>A) c.1117C>A (p.Gln373Lys) c.1129C>A (p.Gln377Lys) c.194C>A c.330C>A n.201C>A n.585C>A c.1048C>A (p.Gln350Lys) | gnomAD v4 |
| 11 | g.2166492C>A | CA5818410 | TH | c.1035G>T (p.Ala345=) c.*724G>T (n.*724G>T) c.753G>T (p.Ala251=) c.*755G>T (n.*755G>T) c.1116G>T (p.Ala372=) c.1128G>T (p.Ala376=) c.193G>T c.329G>T n.200G>T n.584G>T c.1047G>T (p.Ala349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2166492C= | CA1948005066 | TH | c.1035G= (p.Ala345=) c.*724G= (n.*724G=) c.753G= (p.Ala251=) c.*755G= (n.*755G=) c.1116G= (p.Ala372=) c.1128G= (p.Ala376=) c.193G= c.329G= n.200G= n.584G= c.1047G= (p.Ala349=) | |
| 11 | g.2166492C>G | CA472034647 | TH | c.1035G>C (p.Ala345=) c.*724G>C (n.*724G>C) c.753G>C (p.Ala251=) c.*755G>C (n.*755G>C) c.1116G>C (p.Ala372=) c.1128G>C (p.Ala376=) c.193G>C c.329G>C n.200G>C n.584G>C c.1047G>C (p.Ala349=) | |
| 11 | g.2166492C>T | CA472034649 | TH | c.1035G>A (p.Ala345=) c.*724G>A (n.*724G>A) c.753G>A (p.Ala251=) c.*755G>A (n.*755G>A) c.1116G>A (p.Ala372=) c.1128G>A (p.Ala376=) c.193G>A c.329G>A n.200G>A n.584G>A c.1047G>A (p.Ala349=) | gnomAD v4 |
| 11 | g.2166492_2166493insCCCTGA | CA2611961559 | TH | c.1034_1035insTCAGGG (p.Ala345_Gln346insGlnGly) c.*723_*724insTCAGGG (n.*723_*724insTCAGGG) c.752_753insTCAGGG (p.Ala251_Gln252insGlnGly) c.*754_*755insTCAGGG (n.*754_*755insTCAGGG) c.1115_1116insTCAGGG (p.Ala372_Gln373insGlnGly) c.1127_1128insTCAGGG (p.Ala376_Gln377insGlnGly) c.192_193insTCAGGG c.328_329insTCAGGG n.199_200insTCAGGG n.583_584insTCAGGG c.1046_1047insTCAGGG (p.Ala349_Gln350insGlnGly) | gnomAD v4 |
| 11 | g.2166493G>A | CA379125948 | TH | c.1034C>T (p.Ala345Val) c.*723C>T (n.*723C>T) c.752C>T (p.Ala251Val) c.*754C>T (n.*754C>T) c.1115C>T (p.Ala372Val) c.1127C>T (p.Ala376Val) c.192C>T c.328C>T n.199C>T n.583C>T c.1046C>T (p.Ala349Val) | gnomAD v4 |
| 11 | g.2166493G>C | CA379125950 | TH | c.1034C>G (p.Ala345Gly) c.*723C>G (n.*723C>G) c.752C>G (p.Ala251Gly) c.*754C>G (n.*754C>G) c.1115C>G (p.Ala372Gly) c.1127C>G (p.Ala376Gly) c.192C>G c.328C>G n.199C>G n.583C>G c.1046C>G (p.Ala349Gly) | gnomAD v4 |
| 11 | g.2166493G= | CA1948005071 | TH | c.1034C= (p.Ala345=) c.*723C= (n.*723C=) c.752C= (p.Ala251=) c.*754C= (n.*754C=) c.1115C= (p.Ala372=) c.1127C= (p.Ala376=) c.192C= c.328C= n.199C= n.583C= c.1046C= (p.Ala349=) | |
| 11 | g.2166493G>T | CA379125949 | TH | c.1034C>A (p.Ala345Glu) c.*723C>A (n.*723C>A) c.752C>A (p.Ala251Glu) c.*754C>A (n.*754C>A) c.1115C>A (p.Ala372Glu) c.1127C>A (p.Ala376Glu) c.192C>A c.328C>A n.199C>A n.583C>A c.1046C>A (p.Ala349Glu) | dbSNP gnomAD v4 |
| 11 | g.2166494C>A | CA379125951 | TH | c.1033G>T (p.Ala345Ser) c.*722G>T (n.*722G>T) c.751G>T (p.Ala251Ser) c.*753G>T (n.*753G>T) c.1114G>T (p.Ala372Ser) c.1126G>T (p.Ala376Ser) c.191G>T c.327G>T n.198G>T n.582G>T c.1045G>T (p.Ala349Ser) | gnomAD v4 |
| 11 | g.2166494C= | CA1948005074 | TH | c.1033G= (p.Ala345=) c.*722G= (n.*722G=) c.751G= (p.Ala251=) c.*753G= (n.*753G=) c.1114G= (p.Ala372=) c.1126G= (p.Ala376=) c.191G= c.327G= n.198G= n.582G= c.1045G= (p.Ala349=) | |
| 11 | g.2166494C>G | CA379125952 | TH | c.1033G>C (p.Ala345Pro) c.*722G>C (n.*722G>C) c.751G>C (p.Ala251Pro) c.*753G>C (n.*753G>C) c.1114G>C (p.Ala372Pro) c.1126G>C (p.Ala376Pro) c.191G>C c.327G>C n.198G>C n.582G>C c.1045G>C (p.Ala349Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2166494C>T | CA379125953 | TH | c.1033G>A (p.Ala345Thr) c.*722G>A (n.*722G>A) c.751G>A (p.Ala251Thr) c.*753G>A (n.*753G>A) c.1114G>A (p.Ala372Thr) c.1126G>A (p.Ala376Thr) c.191G>A c.327G>A n.198G>A n.582G>A c.1045G>A (p.Ala349Thr) | gnomAD v4 |
| 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 |