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.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 |
| 11 | g.2166508_2166550del | CA674606145 | TH | c.978-1_1019del c.*667-1_*708del c.696-1_737del c.*698-1_*739del c.1059-1_1100del c.1071-1_1112del c.136-1_177del c.272-1_313del n.143-1_184del n.527-1_568del c.990-1_1031del | ClinVar dbSNP |
| 11 | g.2166509C>A | CA379125982 | TH | c.1018G>T (p.Ala340Ser) c.*707G>T (n.*707G>T) c.736G>T (p.Ala246Ser) c.*738G>T (n.*738G>T) c.1099G>T (p.Ala367Ser) c.1111G>T (p.Ala371Ser) c.176G>T c.312G>T n.183G>T n.567G>T c.1030G>T (p.Ala344Ser) | |
| 11 | g.2166509C= | CA1948005094 | TH | c.1018G= (p.Ala340=) c.*707G= (n.*707G=) c.736G= (p.Ala246=) c.*738G= (n.*738G=) c.1099G= (p.Ala367=) c.1111G= (p.Ala371=) c.176G= c.312G= n.183G= n.567G= c.1030G= (p.Ala344=) | |
| 11 | g.2166509C>G | CA379125983 | TH | c.1018G>C (p.Ala340Pro) c.*707G>C (n.*707G>C) c.736G>C (p.Ala246Pro) c.*738G>C (n.*738G>C) c.1099G>C (p.Ala367Pro) c.1111G>C (p.Ala371Pro) c.176G>C c.312G>C n.183G>C n.567G>C c.1030G>C (p.Ala344Pro) | |
| 11 | g.2166509C>T | CA379125984 | TH | c.1018G>A (p.Ala340Thr) c.*707G>A (n.*707G>A) c.736G>A (p.Ala246Thr) c.*738G>A (n.*738G>A) c.1099G>A (p.Ala367Thr) c.1111G>A (p.Ala371Thr) c.176G>A c.312G>A n.183G>A n.567G>A c.1030G>A (p.Ala344Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2166510C>A | CA472413896 | TH | c.1017G>T (p.Leu339=) c.*706G>T (n.*706G>T) c.735G>T (p.Leu245=) c.*737G>T (n.*737G>T) c.1098G>T (p.Leu366=) c.1110G>T (p.Leu370=) c.175G>T c.311G>T n.182G>T n.566G>T c.1029G>T (p.Leu343=) | gnomAD v4 |
| 11 | g.2166510C>G | CA472413897 | TH | c.1017G>C (p.Leu339=) c.*706G>C (n.*706G>C) c.735G>C (p.Leu245=) c.*737G>C (n.*737G>C) c.1098G>C (p.Leu366=) c.1110G>C (p.Leu370=) c.175G>C c.311G>C n.182G>C n.566G>C c.1029G>C (p.Leu343=) | |
| 11 | g.2166510C>T | CA472413899 | TH | c.1017G>A (p.Leu339=) c.*706G>A (n.*706G>A) c.735G>A (p.Leu245=) c.*737G>A (n.*737G>A) c.1098G>A (p.Leu366=) c.1110G>A (p.Leu370=) c.175G>A c.311G>A n.182G>A n.566G>A c.1029G>A (p.Leu343=) | |
| 11 | g.2166511A>C | CA379125987 | TH | c.1016T>G (p.Leu339Arg) c.*705T>G (n.*705T>G) c.734T>G (p.Leu245Arg) c.*736T>G (n.*736T>G) c.1097T>G (p.Leu366Arg) c.1109T>G (p.Leu370Arg) c.174T>G c.310T>G n.181T>G n.565T>G c.1028T>G (p.Leu343Arg) | |
| 11 | g.2166511A>G | CA379125985 | TH | c.1016T>C (p.Leu339Pro) c.*705T>C (n.*705T>C) c.734T>C (p.Leu245Pro) c.*736T>C (n.*736T>C) c.1097T>C (p.Leu366Pro) c.1109T>C (p.Leu370Pro) c.174T>C c.310T>C n.181T>C n.565T>C c.1028T>C (p.Leu343Pro) | |
| 11 | g.2166511A>T | CA379125986 | TH | c.1016T>A (p.Leu339Gln) c.*705T>A (n.*705T>A) c.734T>A (p.Leu245Gln) c.*736T>A (n.*736T>A) c.1097T>A (p.Leu366Gln) c.1109T>A (p.Leu370Gln) c.174T>A c.310T>A n.181T>A n.565T>A c.1028T>A (p.Leu343Gln) | |
| 11 | g.2166512G>A | CA472413902 | TH | c.1015C>T (p.Leu339=) c.*704C>T (n.*704C>T) c.733C>T (p.Leu245=) c.*735C>T (n.*735C>T) c.1096C>T (p.Leu366=) c.1108C>T (p.Leu370=) c.173C>T c.309C>T n.180C>T n.564C>T c.1027C>T (p.Leu343=) | gnomAD v4 |
| 11 | g.2166512G>C | CA379125988 | TH | c.1015C>G (p.Leu339Val) c.*704C>G (n.*704C>G) c.733C>G (p.Leu245Val) c.*735C>G (n.*735C>G) c.1096C>G (p.Leu366Val) c.1108C>G (p.Leu370Val) c.173C>G c.309C>G n.180C>G n.564C>G c.1027C>G (p.Leu343Val) | |
| 11 | g.2166512G>T | CA379125989 | TH | c.1015C>A (p.Leu339Met) c.*704C>A (n.*704C>A) c.733C>A (p.Leu245Met) c.*735C>A (n.*735C>A) c.1096C>A (p.Leu366Met) c.1108C>A (p.Leu370Met) c.173C>A c.309C>A n.180C>A n.564C>A c.1027C>A (p.Leu343Met) | gnomAD v4 |
| 11 | g.2166512_2166520delinsGCATGGGCA | CA1948005098 | TH | c.1007_1015delinsTGCCCATGC (p.Val336=) c.*696_*704delinsTGCCCATGC (n.*696_*704delinsTGCCCATGC) c.725_733delinsTGCCCATGC (p.Val242=) c.*727_*735delinsTGCCCATGC (n.*727_*735delinsTGCCCATGC) c.1088_1096delinsTGCCCATGC (p.Val363=) c.1100_1108delinsTGCCCATGC (p.Val367=) c.165_173delinsTGCCCATGC c.301_309delinsTGCCCATGC n.172_180delinsTGCCCATGC n.556_564delinsTGCCCATGC c.1019_1027delinsTGCCCATGC (p.Val340=) | |
| 11 | g.2166513C>A | CA5818414 | TH | c.1014G>T (p.Met338Ile) c.*703G>T (n.*703G>T) c.732G>T (p.Met244Ile) c.*734G>T (n.*734G>T) c.1095G>T (p.Met365Ile) c.1107G>T (p.Met369Ile) c.172G>T c.308G>T n.179G>T n.563G>T c.1026G>T (p.Met342Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2166513C= | CA1948005103 | TH | c.1014G= (p.Met338=) c.*703G= (n.*703G=) c.732G= (p.Met244=) c.*734G= (n.*734G=) c.1095G= (p.Met365=) c.1107G= (p.Met369=) c.172G= c.308G= n.179G= n.563G= c.1026G= (p.Met342=) | |
| 11 | g.2166513C>G | CA379125990 | TH | c.1014G>C (p.Met338Ile) c.*703G>C (n.*703G>C) c.732G>C (p.Met244Ile) c.*734G>C (n.*734G>C) c.1095G>C (p.Met365Ile) c.1107G>C (p.Met369Ile) c.172G>C c.308G>C n.179G>C n.563G>C c.1026G>C (p.Met342Ile) | gnomAD v4 |
| 11 | g.2166513C>T | CA379125991 | TH | c.1014G>A (p.Met338Ile) c.*703G>A (n.*703G>A) c.732G>A (p.Met244Ile) c.*734G>A (n.*734G>A) c.1095G>A (p.Met365Ile) c.1107G>A (p.Met369Ile) c.172G>A c.308G>A n.179G>A n.563G>A c.1026G>A (p.Met342Ile) | gnomAD v4 |
| 11 | g.2166514_2166521del | CA934419340 | TH | c.1007_1014del (p.Val336AlafsTer23) c.*696_*703del (n.*696_*703del) c.725_732del (p.Val242AlafsTer23) c.*727_*734del (n.*727_*734del) c.1088_1095del (p.Val363AlafsTer23) c.1100_1107del (p.Val367AlafsTer23) c.165_172del c.301_308del n.172_179del n.556_563del c.1019_1026del (p.Val340AlafsTer23) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2166514A>C | CA379125994 | TH | c.1013T>G (p.Met338Arg) c.*702T>G (n.*702T>G) c.731T>G (p.Met244Arg) c.*733T>G (n.*733T>G) c.1094T>G (p.Met365Arg) c.1106T>G (p.Met369Arg) c.171T>G c.307T>G n.178T>G n.562T>G c.1025T>G (p.Met342Arg) | |
| 11 | g.2166514A>G | CA379125992 | TH | c.1013T>C (p.Met338Thr) c.*702T>C (n.*702T>C) c.731T>C (p.Met244Thr) c.*733T>C (n.*733T>C) c.1094T>C (p.Met365Thr) c.1106T>C (p.Met369Thr) c.171T>C c.307T>C n.178T>C n.562T>C c.1025T>C (p.Met342Thr) | gnomAD v4 |
| 11 | g.2166514A>T | CA379125993 | TH | c.1013T>A (p.Met338Lys) c.*702T>A (n.*702T>A) c.731T>A (p.Met244Lys) c.*733T>A (n.*733T>A) c.1094T>A (p.Met365Lys) c.1106T>A (p.Met369Lys) c.171T>A c.307T>A n.178T>A n.562T>A c.1025T>A (p.Met342Lys) | |
| 11 | g.2166515T>A | CA379125995 | TH | c.1012A>T (p.Met338Leu) c.*701A>T (n.*701A>T) c.730A>T (p.Met244Leu) c.*732A>T (n.*732A>T) c.1093A>T (p.Met365Leu) c.1105A>T (p.Met369Leu) c.170A>T c.306A>T n.177A>T n.561A>T c.1024A>T (p.Met342Leu) | dbSNP |
| 11 | g.2166515T>C | CA379125996 | TH | c.1012A>G (p.Met338Val) c.*701A>G (n.*701A>G) c.730A>G (p.Met244Val) c.*732A>G (n.*732A>G) c.1093A>G (p.Met365Val) c.1105A>G (p.Met369Val) c.170A>G c.306A>G n.177A>G n.561A>G c.1024A>G (p.Met342Val) | gnomAD v4 |