WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.2166535_2166544del | CA2611961836 | TH | c.988_997del (p.His330TrpfsTer?) c.*677_*686del (n.*677_*686del) c.706_715del (p.His236TrpfsTer?) c.*708_*717del (n.*708_*717del) c.1069_1078del (p.His357TrpfsTer?) c.1081_1090del (p.His361TrpfsTer?) c.146_155del c.282_291del n.153_162del n.537_546del c.1000_1009del (p.His334TrpfsTer?) | gnomAD v4 |
| 11 | g.2166532A>C | CA379126029 | TH | c.995T>G (p.Leu332Arg) c.*684T>G (n.*684T>G) c.713T>G (p.Leu238Arg) c.*715T>G (n.*715T>G) c.1076T>G (p.Leu359Arg) c.1088T>G (p.Leu363Arg) c.153T>G c.289T>G n.160T>G n.544T>G c.1007T>G (p.Leu336Arg) | gnomAD v4 |
| 11 | g.2166532A>G | CA379126030 | TH | c.995T>C (p.Leu332Pro) c.*684T>C (n.*684T>C) c.713T>C (p.Leu238Pro) c.*715T>C (n.*715T>C) c.1076T>C (p.Leu359Pro) c.1088T>C (p.Leu363Pro) c.153T>C c.289T>C n.160T>C n.544T>C c.1007T>C (p.Leu336Pro) | gnomAD v4 |
| 11 | g.2166532A>T | CA379126031 | TH | c.995T>A (p.Leu332Gln) c.*684T>A (n.*684T>A) c.713T>A (p.Leu238Gln) c.*715T>A (n.*715T>A) c.1076T>A (p.Leu359Gln) c.1088T>A (p.Leu363Gln) c.153T>A c.289T>A n.160T>A n.544T>A c.1007T>A (p.Leu336Gln) | |
| 11 | g.2166533G>A | CA472413932 | TH | c.994C>T (p.Leu332=) c.*683C>T (n.*683C>T) c.712C>T (p.Leu238=) c.*714C>T (n.*714C>T) c.1075C>T (p.Leu359=) c.1087C>T (p.Leu363=) c.152C>T c.288C>T n.159C>T n.543C>T c.1006C>T (p.Leu336=) | gnomAD v4 |
| 11 | g.2166533G>C | CA379126032 | TH | c.994C>G (p.Leu332Val) c.*683C>G (n.*683C>G) c.712C>G (p.Leu238Val) c.*714C>G (n.*714C>G) c.1075C>G (p.Leu359Val) c.1087C>G (p.Leu363Val) c.152C>G c.288C>G n.159C>G n.543C>G c.1006C>G (p.Leu336Val) | gnomAD v4 |
| 11 | g.2166533G>T | CA379126033 | TH | c.994C>A (p.Leu332Met) c.*683C>A (n.*683C>A) c.712C>A (p.Leu238Met) c.*714C>A (n.*714C>A) c.1075C>A (p.Leu359Met) c.1087C>A (p.Leu363Met) c.152C>A c.288C>A n.159C>A n.543C>A c.1006C>A (p.Leu336Met) | gnomAD v4 |
| 11 | g.2166534C>A | CA379126034 | TH | c.993G>T (p.Glu331Asp) c.*682G>T (n.*682G>T) c.711G>T (p.Glu237Asp) c.*713G>T (n.*713G>T) c.1074G>T (p.Glu358Asp) c.1086G>T (p.Glu362Asp) c.151G>T c.287G>T n.158G>T n.542G>T c.1005G>T (p.Glu335Asp) | gnomAD v4 |
| 11 | g.2166534C>G | CA379126035 | TH | c.993G>C (p.Glu331Asp) c.*682G>C (n.*682G>C) c.711G>C (p.Glu237Asp) c.*713G>C (n.*713G>C) c.1074G>C (p.Glu358Asp) c.1086G>C (p.Glu362Asp) c.151G>C c.287G>C n.158G>C n.542G>C c.1005G>C (p.Glu335Asp) | |
| 11 | g.2166534C>T | CA472413935 | TH | c.993G>A (p.Glu331=) c.*682G>A (n.*682G>A) c.711G>A (p.Glu237=) c.*713G>A (n.*713G>A) c.1074G>A (p.Glu358=) c.1086G>A (p.Glu362=) c.151G>A c.287G>A n.158G>A n.542G>A c.1005G>A (p.Glu335=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2166535T>A | CA379126036 | TH | c.992A>T (p.Glu331Val) c.*681A>T (n.*681A>T) c.710A>T (p.Glu237Val) c.*712A>T (n.*712A>T) c.1073A>T (p.Glu358Val) c.1085A>T (p.Glu362Val) c.150A>T c.286A>T n.157A>T n.541A>T c.1004A>T (p.Glu335Val) | |
| 11 | g.2166535T>C | CA379126038 | TH | c.992A>G (p.Glu331Gly) c.*681A>G (n.*681A>G) c.710A>G (p.Glu237Gly) c.*712A>G (n.*712A>G) c.1073A>G (p.Glu358Gly) c.1085A>G (p.Glu362Gly) c.150A>G c.286A>G n.157A>G n.541A>G c.1004A>G (p.Glu335Gly) | |
| 11 | g.2166535T>G | CA379126037 | TH | c.992A>C (p.Glu331Ala) c.*681A>C (n.*681A>C) c.710A>C (p.Glu237Ala) c.*712A>C (n.*712A>C) c.1073A>C (p.Glu358Ala) c.1085A>C (p.Glu362Ala) c.150A>C c.286A>C n.157A>C n.541A>C c.1004A>C (p.Glu335Ala) | |
| 11 | g.2166536C>A | CA379126039 | TH | c.991G>T (p.Glu331Ter) c.*680G>T (n.*680G>T) c.709G>T (p.Glu237Ter) c.*711G>T (n.*711G>T) c.1072G>T (p.Glu358Ter) c.1084G>T (p.Glu362Ter) c.149G>T c.285G>T n.156G>T n.540G>T c.1003G>T (p.Glu335Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2166536C= | CA1948005131 | TH | c.991G= (p.Glu331=) c.*680G= (n.*680G=) c.709G= (p.Glu237=) c.*711G= (n.*711G=) c.1072G= (p.Glu358=) c.1084G= (p.Glu362=) c.149G= c.285G= n.156G= n.540G= c.1003G= (p.Glu335=) | |
| 11 | g.2166536C>G | CA379126040 | TH | c.991G>C (p.Glu331Gln) c.*680G>C (n.*680G>C) c.709G>C (p.Glu237Gln) c.*711G>C (n.*711G>C) c.1072G>C (p.Glu358Gln) c.1084G>C (p.Glu362Gln) c.149G>C c.285G>C n.156G>C n.540G>C c.1003G>C (p.Glu335Gln) | |
| 11 | g.2166536C>T | CA379126041 | TH | c.991G>A (p.Glu331Lys) c.*680G>A (n.*680G>A) c.709G>A (p.Glu237Lys) c.*711G>A (n.*711G>A) c.1072G>A (p.Glu358Lys) c.1084G>A (p.Glu362Lys) c.149G>A c.285G>A n.156G>A n.540G>A c.1003G>A (p.Glu335Lys) | dbSNP gnomAD v4 |
| 11 | g.2166536_2166537delinsCG | CA1948005134 | TH | c.990_991delinsCG (p.His330=) c.*679_*680delinsCG (n.*679_*680delinsCG) c.708_709delinsCG (p.His236=) c.*710_*711delinsCG (n.*710_*711delinsCG) c.1071_1072delinsCG (p.His357=) c.1083_1084delinsCG (p.His361=) c.148_149delinsCG c.284_285delinsCG n.155_156delinsCG n.539_540delinsCG c.1002_1003delinsCG (p.His334=) | |
| 11 | g.2166536_2166545del | CA2580082649 | TH | c.982_991del (p.Cys328SerfsTer?) c.*671_*680del (n.*671_*680del) c.700_709del (p.Cys234SerfsTer?) c.*702_*711del (n.*702_*711del) c.1063_1072del (p.Cys355SerfsTer?) c.1075_1084del (p.Cys359SerfsTer?) c.140_149del c.276_285del n.147_156del n.531_540del c.994_1003del (p.Cys332SerfsTer?) | ClinVar |
| 11 | g.2166537del | CA1139661747 | TH | c.990del (p.His330GlnfsTer?) c.*679del (n.*679del) c.708del (p.His236GlnfsTer?) c.*710del (n.*710del) c.1071del (p.His357GlnfsTer?) c.1083del (p.His361GlnfsTer?) c.148del c.284del n.155del n.539del c.1002del (p.His334GlnfsTer?) | ClinVar dbSNP |
| 11 | g.2166537G>A | CA5818417 | TH | c.990C>T (p.His330=) c.*679C>T (n.*679C>T) c.708C>T (p.His236=) c.*710C>T (n.*710C>T) c.1071C>T (p.His357=) c.1083C>T (p.His361=) c.148C>T c.284C>T n.155C>T n.539C>T c.1002C>T (p.His334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2166537G>C | CA379126042 | TH | c.990C>G (p.His330Gln) c.*679C>G (n.*679C>G) c.708C>G (p.His236Gln) c.*710C>G (n.*710C>G) c.1071C>G (p.His357Gln) c.1083C>G (p.His361Gln) c.148C>G c.284C>G n.155C>G n.539C>G c.1002C>G (p.His334Gln) | ClinVar dbSNP |
| 11 | g.2166537G= | CA1948005141 | TH | c.990C= (p.His330=) c.*679C= (n.*679C=) c.708C= (p.His236=) c.*710C= (n.*710C=) c.1071C= (p.His357=) c.1083C= (p.His361=) c.148C= c.284C= n.155C= n.539C= c.1002C= (p.His334=) | |
| 11 | g.2166537G>T | CA379126043 | TH | c.990C>A (p.His330Gln) c.*679C>A (n.*679C>A) c.708C>A (p.His236Gln) c.*710C>A (n.*710C>A) c.1071C>A (p.His357Gln) c.1083C>A (p.His361Gln) c.148C>A c.284C>A n.155C>A n.539C>A c.1002C>A (p.His334Gln) | gnomAD v4 |
| 11 | g.2166538T>A | CA379126044 | TH | c.989A>T (p.His330Leu) c.*678A>T (n.*678A>T) c.707A>T (p.His236Leu) c.*709A>T (n.*709A>T) c.1070A>T (p.His357Leu) c.1082A>T (p.His361Leu) c.147A>T c.283A>T n.154A>T n.538A>T c.1001A>T (p.His334Leu) | |
| 11 | g.2166538T>C | CA379126045 | TH | c.989A>G (p.His330Arg) c.*678A>G (n.*678A>G) c.707A>G (p.His236Arg) c.*709A>G (n.*709A>G) c.1070A>G (p.His357Arg) c.1082A>G (p.His361Arg) c.147A>G c.283A>G n.154A>G n.538A>G c.1001A>G (p.His334Arg) | gnomAD v4 |
| 11 | g.2166538T>G | CA379126046 | TH | c.989A>C (p.His330Pro) c.*678A>C (n.*678A>C) c.707A>C (p.His236Pro) c.*709A>C (n.*709A>C) c.1070A>C (p.His357Pro) c.1082A>C (p.His361Pro) c.147A>C c.283A>C n.154A>C n.538A>C c.1001A>C (p.His334Pro) | |
| 11 | g.2166539G>A | CA379126047 | TH | c.988C>T (p.His330Tyr) c.*677C>T (n.*677C>T) c.706C>T (p.His236Tyr) c.*708C>T (n.*708C>T) c.1069C>T (p.His357Tyr) c.1081C>T (p.His361Tyr) c.146C>T c.282C>T n.153C>T n.537C>T c.1000C>T (p.His334Tyr) | |
| 11 | g.2166539G>C | CA379126048 | TH | c.988C>G (p.His330Asp) c.*677C>G (n.*677C>G) c.706C>G (p.His236Asp) c.*708C>G (n.*708C>G) c.1069C>G (p.His357Asp) c.1081C>G (p.His361Asp) c.146C>G c.282C>G n.153C>G n.537C>G c.1000C>G (p.His334Asp) | |
| 11 | g.2166539G>T | CA379126050 | TH | c.988C>A (p.His330Asn) c.*677C>A (n.*677C>A) c.706C>A (p.His236Asn) c.*708C>A (n.*708C>A) c.1069C>A (p.His357Asn) c.1081C>A (p.His361Asn) c.146C>A c.282C>A n.153C>A n.537C>A c.1000C>A (p.His334Asn) | |
| 11 | g.2166540del | CA2611961891 | TH | c.988del (p.His330ThrfsTer?) c.*677del (n.*677del) c.706del (p.His236ThrfsTer?) c.*708del (n.*708del) c.1069del (p.His357ThrfsTer?) c.1081del (p.His361ThrfsTer?) c.146del c.282del n.153del n.537del c.1000del (p.His334ThrfsTer?) | gnomAD v4 |
| 11 | g.2166540G>A | CA472413940 | TH | c.987C>T (p.Cys329=) c.*676C>T (n.*676C>T) c.705C>T (p.Cys235=) c.*707C>T (n.*707C>T) c.1068C>T (p.Cys356=) c.1080C>T (p.Cys360=) c.145C>T c.281C>T n.152C>T n.536C>T c.999C>T (p.Cys333=) | |
| 11 | g.2166540G>C | CA379126052 | TH | c.987C>G (p.Cys329Trp) c.*676C>G (n.*676C>G) c.705C>G (p.Cys235Trp) c.*707C>G (n.*707C>G) c.1068C>G (p.Cys356Trp) c.1080C>G (p.Cys360Trp) c.145C>G c.281C>G n.152C>G n.536C>G c.999C>G (p.Cys333Trp) | |
| 11 | g.2166540G>T | CA379126051 | TH | c.987C>A (p.Cys329Ter) c.*676C>A (n.*676C>A) c.705C>A (p.Cys235Ter) c.*707C>A (n.*707C>A) c.1068C>A (p.Cys356Ter) c.1080C>A (p.Cys360Ter) c.145C>A c.281C>A n.152C>A n.536C>A c.999C>A (p.Cys333Ter) | gnomAD v4 |
| 11 | g.2166541C>A | CA379126053 | TH | c.986G>T (p.Cys329Phe) c.*675G>T (n.*675G>T) c.704G>T (p.Cys235Phe) c.*706G>T (n.*706G>T) c.1067G>T (p.Cys356Phe) c.1079G>T (p.Cys360Phe) c.144G>T c.280G>T n.151G>T n.535G>T c.998G>T (p.Cys333Phe) | gnomAD v4 |
| 11 | g.2166541C>G | CA379126054 | TH | c.986G>C (p.Cys329Ser) c.*675G>C (n.*675G>C) c.704G>C (p.Cys235Ser) c.*706G>C (n.*706G>C) c.1067G>C (p.Cys356Ser) c.1079G>C (p.Cys360Ser) c.144G>C c.280G>C n.151G>C n.535G>C c.998G>C (p.Cys333Ser) | |
| 11 | g.2166541C>T | CA379126055 | TH | c.986G>A (p.Cys329Tyr) c.*675G>A (n.*675G>A) c.704G>A (p.Cys235Tyr) c.*706G>A (n.*706G>A) c.1067G>A (p.Cys356Tyr) c.1079G>A (p.Cys360Tyr) c.144G>A c.280G>A n.151G>A n.535G>A c.998G>A (p.Cys333Tyr) | gnomAD v4 COSMIC |
| 11 | g.2166542A= | CA1948005146 | TH | c.985T= (p.Cys329=) c.*674T= (n.*674T=) c.703T= (p.Cys235=) c.*705T= (n.*705T=) c.1066T= (p.Cys356=) c.1078T= (p.Cys360=) c.143T= c.279T= n.150T= n.534T= c.997T= (p.Cys333=) | |
| 11 | g.2166542A>C | CA379126056 | TH | c.985T>G (p.Cys329Gly) c.*674T>G (n.*674T>G) c.703T>G (p.Cys235Gly) c.*705T>G (n.*705T>G) c.1066T>G (p.Cys356Gly) c.1078T>G (p.Cys360Gly) c.143T>G c.279T>G n.150T>G n.534T>G c.997T>G (p.Cys333Gly) | |
| 11 | g.2166542A>G | CA379126057 | TH | c.985T>C (p.Cys329Arg) c.*674T>C (n.*674T>C) c.703T>C (p.Cys235Arg) c.*705T>C (n.*705T>C) c.1066T>C (p.Cys356Arg) c.1078T>C (p.Cys360Arg) c.143T>C c.279T>C n.150T>C n.534T>C c.997T>C (p.Cys333Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2166542A>T | CA379126058 | TH | c.985T>A (p.Cys329Ser) c.*674T>A (n.*674T>A) c.703T>A (p.Cys235Ser) c.*705T>A (n.*705T>A) c.1066T>A (p.Cys356Ser) c.1078T>A (p.Cys360Ser) c.143T>A c.279T>A n.150T>A n.534T>A c.997T>A (p.Cys333Ser) | |
| 11 | g.2166543G>A | CA5818418 | TH | c.984C>T (p.Cys328=) c.*673C>T (n.*673C>T) c.702C>T (p.Cys234=) c.*704C>T (n.*704C>T) c.1065C>T (p.Cys355=) c.1077C>T (p.Cys359=) c.142C>T c.278C>T n.149C>T n.533C>T c.996C>T (p.Cys332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2166543G>C | CA379126059 | TH | c.984C>G (p.Cys328Trp) c.*673C>G (n.*673C>G) c.702C>G (p.Cys234Trp) c.*704C>G (n.*704C>G) c.1065C>G (p.Cys355Trp) c.1077C>G (p.Cys359Trp) c.142C>G c.278C>G n.149C>G n.533C>G c.996C>G (p.Cys332Trp) | |
| 11 | g.2166543G= | CA1948005149 | TH | c.984C= (p.Cys328=) c.*673C= (n.*673C=) c.702C= (p.Cys234=) c.*704C= (n.*704C=) c.1065C= (p.Cys355=) c.1077C= (p.Cys359=) c.142C= c.278C= n.149C= n.533C= c.996C= (p.Cys332=) | |
| 11 | g.2166543G>T | CA379126060 | TH | c.984C>A (p.Cys328Ter) c.*673C>A (n.*673C>A) c.702C>A (p.Cys234Ter) c.*704C>A (n.*704C>A) c.1065C>A (p.Cys355Ter) c.1077C>A (p.Cys359Ter) c.142C>A c.278C>A n.149C>A n.533C>A c.996C>A (p.Cys332Ter) | gnomAD v4 |
| 11 | g.2166544C>A | CA278134 | TH | c.983G>T (p.Cys328Phe) c.*672G>T (n.*672G>T) c.701G>T (p.Cys234Phe) c.*703G>T (n.*703G>T) c.1064G>T (p.Cys355Phe) c.1076G>T (p.Cys359Phe) c.141G>T c.277G>T n.148G>T n.532G>T c.995G>T (p.Cys332Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2166544C= | CA1948005151 | TH | c.983G= (p.Cys328=) c.*672G= (n.*672G=) c.701G= (p.Cys234=) c.*703G= (n.*703G=) c.1064G= (p.Cys355=) c.1076G= (p.Cys359=) c.141G= c.277G= n.148G= n.532G= c.995G= (p.Cys332=) | |
| 11 | g.2166544C>G | CA379126061 | TH | c.983G>C (p.Cys328Ser) c.*672G>C (n.*672G>C) c.701G>C (p.Cys234Ser) c.*703G>C (n.*703G>C) c.1064G>C (p.Cys355Ser) c.1076G>C (p.Cys359Ser) c.141G>C c.277G>C n.148G>C n.532G>C c.995G>C (p.Cys332Ser) |