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.67490123_67490125del | CA2614623231 | AIP | c.531_533del c.365_367del (p.Glu122del) n.1066_1068del c.468+668_468+670del (n.468+668_468+670del) c.185_187del (p.Glu62del) c.554_556del (p.Glu185del) c.377_379del (p.Glu126del) c.374_376del (p.Glu125del) c.206_208del (p.Glu69del) | gnomAD v4 |
| 11 | g.67490121G>A | CA475509177 | AIP | c.529G>A c.363G>A (p.Gln121=) n.1064G>A c.468+666G>A (n.468+666G>A) c.183G>A (p.Gln61=) c.552G>A (p.Gln184=) c.375G>A (p.Gln125=) c.372G>A (p.Gln124=) c.204G>A (p.Gln68=) | |
| 11 | g.67490121G>C | CA381550776 | AIP | c.529G>C c.363G>C (p.Gln121His) n.1064G>C c.468+666G>C (n.468+666G>C) c.183G>C (p.Gln61His) c.552G>C (p.Gln184His) c.375G>C (p.Gln125His) c.372G>C (p.Gln124His) c.204G>C (p.Gln68His) | |
| 11 | g.67490121G>T | CA381550777 | AIP | c.529G>T c.363G>T (p.Gln121His) n.1064G>T c.468+666G>T (n.468+666G>T) c.183G>T (p.Gln61His) c.552G>T (p.Gln184His) c.375G>T (p.Gln125His) c.372G>T (p.Gln124His) c.204G>T (p.Gln68His) | |
| 11 | g.67490122G>A | CA224165001 | AIP | c.530G>A c.364G>A (p.Glu122Lys) n.1065G>A c.468+667G>A (n.468+667G>A) c.184G>A (p.Glu62Lys) c.553G>A (p.Glu185Lys) c.376G>A (p.Glu126Lys) c.373G>A (p.Glu125Lys) c.205G>A (p.Glu69Lys) | ClinVar dbSNP |
| 11 | g.67490122G>C | CA381550784 | AIP | c.530G>C c.364G>C (p.Glu122Gln) n.1065G>C c.468+667G>C (n.468+667G>C) c.184G>C (p.Glu62Gln) c.553G>C (p.Glu185Gln) c.376G>C (p.Glu126Gln) c.373G>C (p.Glu125Gln) c.205G>C (p.Glu69Gln) | |
| 11 | g.67490122G= | CA1980172306 | AIP | c.530G= c.364G= (p.Glu122=) n.1065G= c.468+667G= (n.468+667G=) c.184G= (p.Glu62=) c.553G= (p.Glu185=) c.376G= (p.Glu126=) c.373G= (p.Glu125=) c.205G= (p.Glu69=) | |
| 11 | g.67490122G>T | CA381550781 | AIP | c.530G>T c.364G>T (p.Glu122Ter) n.1065G>T c.468+667G>T (n.468+667G>T) c.184G>T (p.Glu62Ter) c.553G>T (p.Glu185Ter) c.376G>T (p.Glu126Ter) c.373G>T (p.Glu125Ter) c.205G>T (p.Glu69Ter) | ClinVar dbSNP |
| 11 | g.67490123A>C | CA381550787 | AIP | c.531A>C c.365A>C (p.Glu122Ala) n.1066A>C c.468+668A>C (n.468+668A>C) c.185A>C (p.Glu62Ala) c.554A>C (p.Glu185Ala) c.377A>C (p.Glu126Ala) c.374A>C (p.Glu125Ala) c.206A>C (p.Glu69Ala) | |
| 11 | g.67490123A>G | CA381550790 | AIP | c.531A>G c.365A>G (p.Glu122Gly) n.1066A>G c.468+668A>G (n.468+668A>G) c.185A>G (p.Glu62Gly) c.554A>G (p.Glu185Gly) c.377A>G (p.Glu126Gly) c.374A>G (p.Glu125Gly) c.206A>G (p.Glu69Gly) | |
| 11 | g.67490123A>T | CA381550792 | AIP | c.531A>T c.365A>T (p.Glu122Val) n.1066A>T c.468+668A>T (n.468+668A>T) c.185A>T (p.Glu62Val) c.554A>T (p.Glu185Val) c.377A>T (p.Glu126Val) c.374A>T (p.Glu125Val) c.206A>T (p.Glu69Val) | |
| 11 | g.67490124G>A | CA475509179 | AIP | c.532G>A c.366G>A (p.Glu122=) n.1067G>A c.468+669G>A (n.468+669G>A) c.186G>A (p.Glu62=) c.555G>A (p.Glu185=) c.378G>A (p.Glu126=) c.375G>A (p.Glu125=) c.207G>A (p.Glu69=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490124G>C | CA381550796 | AIP | c.532G>C c.366G>C (p.Glu122Asp) n.1067G>C c.468+669G>C (n.468+669G>C) c.186G>C (p.Glu62Asp) c.555G>C (p.Glu185Asp) c.378G>C (p.Glu126Asp) c.375G>C (p.Glu125Asp) c.207G>C (p.Glu69Asp) | |
| 11 | g.67490124G= | CA1980172307 | AIP | c.532G= c.366G= (p.Glu122=) n.1067G= c.468+669G= (n.468+669G=) c.186G= (p.Glu62=) c.555G= (p.Glu185=) c.378G= (p.Glu126=) c.375G= (p.Glu125=) c.207G= (p.Glu69=) | |
| 11 | g.67490124G>T | CA381550799 | AIP | c.532G>T c.366G>T (p.Glu122Asp) n.1067G>T c.468+669G>T (n.468+669G>T) c.186G>T (p.Glu62Asp) c.555G>T (p.Glu185Asp) c.378G>T (p.Glu126Asp) c.375G>T (p.Glu125Asp) c.207G>T (p.Glu69Asp) | |
| 11 | g.67490125G>A | CA381550801 | AIP | c.533G>A c.367G>A (p.Gly123Ser) n.1068G>A c.468+670G>A (n.468+670G>A) c.187G>A (p.Gly63Ser) c.556G>A (p.Gly186Ser) c.379G>A (p.Gly127Ser) c.376G>A (p.Gly126Ser) c.208G>A (p.Gly70Ser) | |
| 11 | g.67490125G>C | CA381550803 | AIP | c.533G>C c.367G>C (p.Gly123Arg) n.1068G>C c.468+670G>C (n.468+670G>C) c.187G>C (p.Gly63Arg) c.556G>C (p.Gly186Arg) c.379G>C (p.Gly127Arg) c.376G>C (p.Gly126Arg) c.208G>C (p.Gly70Arg) | |
| 11 | g.67490125G>T | CA381550807 | AIP | c.533G>T c.367G>T (p.Gly123Cys) n.1068G>T c.468+670G>T (n.468+670G>T) c.187G>T (p.Gly63Cys) c.556G>T (p.Gly186Cys) c.379G>T (p.Gly127Cys) c.376G>T (p.Gly126Cys) c.208G>T (p.Gly70Cys) | |
| 11 | g.67490126G>A | CA381550811 | AIP | c.534G>A c.368G>A (p.Gly123Asp) n.1069G>A c.468+671G>A (n.468+671G>A) c.188G>A (p.Gly63Asp) c.557G>A (p.Gly186Asp) c.380G>A (p.Gly127Asp) c.377G>A (p.Gly126Asp) c.209G>A (p.Gly70Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490126G>C | CA381550813 | AIP | c.534G>C c.368G>C (p.Gly123Ala) n.1069G>C c.468+671G>C (n.468+671G>C) c.188G>C (p.Gly63Ala) c.557G>C (p.Gly186Ala) c.380G>C (p.Gly127Ala) c.377G>C (p.Gly126Ala) c.209G>C (p.Gly70Ala) | |
| 11 | g.67490126G= | CA1980172308 | AIP | c.534G= c.368G= (p.Gly123=) n.1069G= c.468+671G= (n.468+671G=) c.188G= (p.Gly63=) c.557G= (p.Gly186=) c.380G= (p.Gly127=) c.377G= (p.Gly126=) c.209G= (p.Gly70=) | |
| 11 | g.67490126G>T | CA381550817 | AIP | c.534G>T c.368G>T (p.Gly123Val) n.1069G>T c.468+671G>T (n.468+671G>T) c.188G>T (p.Gly63Val) c.557G>T (p.Gly186Val) c.380G>T (p.Gly127Val) c.377G>T (p.Gly126Val) c.209G>T (p.Gly70Val) | |
| 11 | g.67490127C>A | CA475509186 | AIP | c.535C>A c.369C>A (p.Gly123=) n.1070C>A c.468+672C>A (n.468+672C>A) c.189C>A (p.Gly63=) c.558C>A (p.Gly186=) c.381C>A (p.Gly127=) c.378C>A (p.Gly126=) c.210C>A (p.Gly70=) | |
| 11 | g.67490127C= | CA1980172309 | AIP | c.535C= c.369C= (p.Gly123=) n.1070C= c.468+672C= (n.468+672C=) c.189C= (p.Gly63=) c.558C= (p.Gly186=) c.381C= (p.Gly127=) c.378C= (p.Gly126=) c.210C= (p.Gly70=) | |
| 11 | g.67490127C>G | CA475509187 | AIP | c.535C>G c.369C>G (p.Gly123=) n.1070C>G c.468+672C>G (n.468+672C>G) c.189C>G (p.Gly63=) c.558C>G (p.Gly186=) c.381C>G (p.Gly127=) c.378C>G (p.Gly126=) c.210C>G (p.Gly70=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490127C>T | CA475509188 | AIP | c.535C>T c.369C>T (p.Gly123=) n.1070C>T c.468+672C>T (n.468+672C>T) c.189C>T (p.Gly63=) c.558C>T (p.Gly186=) c.381C>T (p.Gly127=) c.378C>T (p.Gly126=) c.210C>T (p.Gly70=) | |
| 11 | g.67490128A>C | CA381550823 | AIP | c.536A>C c.370A>C (p.Asn124His) n.1071A>C c.468+673A>C (n.468+673A>C) c.190A>C (p.Asn64His) c.559A>C (p.Asn187His) c.382A>C (p.Asn128His) c.379A>C (p.Asn127His) c.211A>C (p.Asn71His) | |
| 11 | g.67490128A>G | CA381550829 | AIP | c.536A>G c.370A>G (p.Asn124Asp) n.1071A>G c.468+673A>G (n.468+673A>G) c.190A>G (p.Asn64Asp) c.559A>G (p.Asn187Asp) c.382A>G (p.Asn128Asp) c.379A>G (p.Asn127Asp) c.211A>G (p.Asn71Asp) | |
| 11 | g.67490128A>T | CA381550826 | AIP | c.536A>T c.370A>T (p.Asn124Tyr) n.1071A>T c.468+673A>T (n.468+673A>T) c.190A>T (p.Asn64Tyr) c.559A>T (p.Asn187Tyr) c.382A>T (p.Asn128Tyr) c.379A>T (p.Asn127Tyr) c.211A>T (p.Asn71Tyr) | |
| 11 | g.67490129A>C | CA381550833 | AIP | c.537A>C c.371A>C (p.Asn124Thr) n.1072A>C c.468+674A>C (n.468+674A>C) c.191A>C (p.Asn64Thr) c.560A>C (p.Asn187Thr) c.383A>C (p.Asn128Thr) c.380A>C (p.Asn127Thr) c.212A>C (p.Asn71Thr) | |
| 11 | g.67490129A>G | CA381550836 | AIP | c.537A>G c.371A>G (p.Asn124Ser) n.1072A>G c.468+674A>G (n.468+674A>G) c.191A>G (p.Asn64Ser) c.560A>G (p.Asn187Ser) c.383A>G (p.Asn128Ser) c.380A>G (p.Asn127Ser) c.212A>G (p.Asn71Ser) | |
| 11 | g.67490129A>T | CA381550838 | AIP | c.537A>T c.371A>T (p.Asn124Ile) n.1072A>T c.468+674A>T (n.468+674A>T) c.191A>T (p.Asn64Ile) c.560A>T (p.Asn187Ile) c.383A>T (p.Asn128Ile) c.380A>T (p.Asn127Ile) c.212A>T (p.Asn71Ile) | |
| 11 | g.67490130C>A | CA381550841 | AIP | c.538C>A c.372C>A (p.Asn124Lys) n.1073C>A c.468+675C>A (n.468+675C>A) c.192C>A (p.Asn64Lys) c.561C>A (p.Asn187Lys) c.384C>A (p.Asn128Lys) c.381C>A (p.Asn127Lys) c.213C>A (p.Asn71Lys) | |
| 11 | g.67490130C= | CA1980172310 | AIP | c.538C= c.372C= (p.Asn124=) n.1073C= c.468+675C= (n.468+675C=) c.192C= (p.Asn64=) c.561C= (p.Asn187=) c.384C= (p.Asn128=) c.381C= (p.Asn127=) c.213C= (p.Asn71=) | |
| 11 | g.67490130C>G | CA381550845 | AIP | c.538C>G c.372C>G (p.Asn124Lys) n.1073C>G c.468+675C>G (n.468+675C>G) c.192C>G (p.Asn64Lys) c.561C>G (p.Asn187Lys) c.384C>G (p.Asn128Lys) c.381C>G (p.Asn127Lys) c.213C>G (p.Asn71Lys) | |
| 11 | g.67490130C>T | CA6140868 | AIP | c.538C>T c.372C>T (p.Asn124=) n.1073C>T c.468+675C>T (n.468+675C>T) c.192C>T (p.Asn64=) c.561C>T (p.Asn187=) c.384C>T (p.Asn128=) c.381C>T (p.Asn127=) c.213C>T (p.Asn71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490131C>A | CA475509194 | AIP | c.539C>A c.373C>A (p.Arg125=) n.1074C>A c.468+676C>A (n.468+676C>A) c.193C>A (p.Arg65=) c.562C>A (p.Arg188=) c.385C>A (p.Arg129=) c.382C>A (p.Arg128=) c.214C>A (p.Arg72=) | |
| 11 | g.67490131C= | CA1980172311 | AIP | c.539C= c.373C= (p.Arg125=) n.1074C= c.468+676C= (n.468+676C=) c.193C= (p.Arg65=) c.562C= (p.Arg188=) c.385C= (p.Arg129=) c.382C= (p.Arg128=) c.214C= (p.Arg72=) | |
| 11 | g.67490131C>G | CA381550851 | AIP | c.539C>G c.373C>G (p.Arg125Gly) n.1074C>G c.468+676C>G (n.468+676C>G) c.193C>G (p.Arg65Gly) c.562C>G (p.Arg188Gly) c.385C>G (p.Arg129Gly) c.382C>G (p.Arg128Gly) c.214C>G (p.Arg72Gly) | |
| 11 | g.67490131C>T | CA6140869 | AIP | c.539C>T c.373C>T (p.Arg125Trp) n.1074C>T c.468+676C>T (n.468+676C>T) c.193C>T (p.Arg65Trp) c.562C>T (p.Arg188Trp) c.385C>T (p.Arg129Trp) c.382C>T (p.Arg128Trp) c.214C>T (p.Arg72Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490132G>A | CA224165016 | AIP | c.540G>A c.374G>A (p.Arg125Gln) n.1075G>A c.468+677G>A (n.468+677G>A) c.194G>A (p.Arg65Gln) c.563G>A (p.Arg188Gln) c.386G>A (p.Arg129Gln) c.383G>A (p.Arg128Gln) c.215G>A (p.Arg72Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.67490132G>C | CA381550856 | AIP | c.540G>C c.374G>C (p.Arg125Pro) n.1075G>C c.468+677G>C (n.468+677G>C) c.194G>C (p.Arg65Pro) c.563G>C (p.Arg188Pro) c.386G>C (p.Arg129Pro) c.383G>C (p.Arg128Pro) c.215G>C (p.Arg72Pro) | |
| 11 | g.67490132G= | CA1980172312 | AIP | c.540G= c.374G= (p.Arg125=) n.1075G= c.468+677G= (n.468+677G=) c.194G= (p.Arg65=) c.563G= (p.Arg188=) c.386G= (p.Arg129=) c.383G= (p.Arg128=) c.215G= (p.Arg72=) | |
| 11 | g.67490132G>T | CA381550858 | AIP | c.540G>T c.374G>T (p.Arg125Leu) n.1075G>T c.468+677G>T (n.468+677G>T) c.194G>T (p.Arg65Leu) c.563G>T (p.Arg188Leu) c.386G>T (p.Arg129Leu) c.383G>T (p.Arg128Leu) c.215G>T (p.Arg72Leu) | |
| 11 | g.67490133G>A | CA475509196 | AIP | c.541G>A c.375G>A (p.Arg125=) n.1076G>A c.468+678G>A (n.468+678G>A) c.195G>A (p.Arg65=) c.564G>A (p.Arg188=) c.387G>A (p.Arg129=) c.384G>A (p.Arg128=) c.216G>A (p.Arg72=) | ClinVar |
| 11 | g.67490133G>C | CA475509197 | AIP | c.541G>C c.375G>C (p.Arg125=) n.1076G>C c.468+678G>C (n.468+678G>C) c.195G>C (p.Arg65=) c.564G>C (p.Arg188=) c.387G>C (p.Arg129=) c.384G>C (p.Arg128=) c.216G>C (p.Arg72=) | |
| 11 | g.67490133G>T | CA475509198 | AIP | c.541G>T c.375G>T (p.Arg125=) n.1076G>T c.468+678G>T (n.468+678G>T) c.195G>T (p.Arg65=) c.564G>T (p.Arg188=) c.387G>T (p.Arg129=) c.384G>T (p.Arg128=) c.216G>T (p.Arg72=) | |
| 11 | g.67490133_67490134insCTGCGGCACCCCCTCGAC | CA2534074633 | AIP | c.541_542insCTGCGGCACCCCCTCGAC c.375_376insCTGCGGCACCCCCTCGAC (p.Arg125_Leu126insLeuArgHisProLeuAsp) n.1076_1077insCTGCGGCACCCCCTCGAC c.468+678_468+679insCTGCGGCACCCCCTCGAC (n.468+678_468+679insCTGCGGCACCCCCTCGAC) c.195_196insCTGCGGCACCCCCTCGAC (p.Arg65_Leu66insLeuArgHisProLeuAsp) c.564_565insCTGCGGCACCCCCTCGAC (p.Arg188_Leu189insLeuArgHisProLeuAsp) c.387_388insCTGCGGCACCCCCTCGAC (p.Arg129_Leu130insLeuArgHisProLeuAsp) c.384_385insCTGCGGCACCCCCTCGAC (p.Arg128_Leu129insLeuArgHisProLeuAsp) c.216_217insCTGCGGCACCCCCTCGAC (p.Arg72_Leu73insLeuArgHisProLeuAsp) | |
| 11 | g.67490133_67490134insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC | CA2568274812 | AIP | c.541_542insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC c.375_376insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr127ArgfsTer?) n.1076_1077insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC c.468+678_468+679insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (n.468+678_468+679insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC) c.195_196insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr67ArgfsTer?) c.564_565insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr190ArgfsTer?) c.387_388insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr131ArgfsTer?) c.384_385insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr130ArgfsTer?) c.216_217insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr74ArgfsTer?) | |
| 11 | g.67490134T>A | CA381550861 | AIP | c.542T>A c.376T>A (p.Leu126Met) n.1077T>A c.468+679T>A (n.468+679T>A) c.196T>A (p.Leu66Met) c.565T>A (p.Leu189Met) c.388T>A (p.Leu130Met) c.385T>A (p.Leu129Met) c.217T>A (p.Leu73Met) |