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 |
|---|---|---|---|---|---|
| X | g.85956199_85956217del | CA2695234666 | CHM | c.1103_1121del (p.Tyr368CysfsTer?) n.126+71275_126+71293del c.1040_1058del (p.Tyr347CysfsTer?) c.659_677del (p.Tyr220CysfsTer?) | |
| X | g.85956202_85956203del | CA2695234667 | CHM | c.1116_1117del (p.Leu374ValfsTer?) n.126+71288_126+71289del c.1053_1054del (p.Leu353ValfsTer?) c.672_673del (p.Leu226ValfsTer?) | |
| X | g.85956203T>A | CA517490945 | CHM | c.1116A>T (p.Pro372=) n.126+71288A>T c.1053A>T (p.Pro351=) c.672A>T (p.Pro224=) | |
| X | g.85956203T>C | CA10465470 | CHM | c.1116A>G (p.Pro372=) n.126+71288A>G c.1053A>G (p.Pro351=) c.672A>G (p.Pro224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85956203T>G | CA517490946 | CHM | c.1116A>C (p.Pro372=) n.126+71288A>C c.1053A>C (p.Pro351=) c.672A>C (p.Pro224=) | |
| X | g.85956203T= | CA2442478019 | CHM | c.1116A= (p.Pro372=) n.126+71288A= c.1053A= (p.Pro351=) c.672A= (p.Pro224=) | |
| X | g.85956204G>A | CA413784928 | CHM | c.1115C>T (p.Pro372Leu) n.126+71287C>T c.1052C>T (p.Pro351Leu) c.671C>T (p.Pro224Leu) | |
| X | g.85956204G>C | CA413784930 | CHM | c.1115C>G (p.Pro372Arg) n.126+71287C>G c.1052C>G (p.Pro351Arg) c.671C>G (p.Pro224Arg) | |
| X | g.85956204G>T | CA413784931 | CHM | c.1115C>A (p.Pro372Gln) n.126+71287C>A c.1052C>A (p.Pro351Gln) c.671C>A (p.Pro224Gln) | |
| X | g.85956205G>A | CA413784932 | CHM | c.1114C>T (p.Pro372Ser) n.126+71286C>T c.1051C>T (p.Pro351Ser) c.670C>T (p.Pro224Ser) | |
| X | g.85956205G>C | CA413784933 | CHM | c.1114C>G (p.Pro372Ala) n.126+71286C>G c.1051C>G (p.Pro351Ala) c.670C>G (p.Pro224Ala) | |
| X | g.85956205G>T | CA413784935 | CHM | c.1114C>A (p.Pro372Thr) n.126+71286C>A c.1051C>A (p.Pro351Thr) c.670C>A (p.Pro224Thr) | |
| X | g.85956206_85956207del | CA2499226900 | CHM | c.1113_1114del (p.Pro372IlefsTer?) n.126+71285_126+71286del c.1050_1051del (p.Pro351IlefsTer?) c.669_670del (p.Pro224IlefsTer?) | ClinVar dbSNP |
| X | g.85956206A= | CA2442478020 | CHM | c.1113T= (p.Thr371=) n.126+71285T= c.1050T= (p.Thr350=) c.669T= (p.Thr223=) | |
| X | g.85956206A>C | CA332654825 | CHM | c.1113T>G (p.Thr371=) n.126+71285T>G c.1050T>G (p.Thr350=) c.669T>G (p.Thr223=) | ClinVar dbSNP |
| X | g.85956206A>G | CA517490948 | CHM | c.1113T>C (p.Thr371=) n.126+71285T>C c.1050T>C (p.Thr350=) c.669T>C (p.Thr223=) | |
| X | g.85956206A>T | CA517490947 | CHM | c.1113T>A (p.Thr371=) n.126+71285T>A c.1050T>A (p.Thr350=) c.669T>A (p.Thr223=) | ClinVar |
| X | g.85956207G>A | CA413784938 | CHM | c.1112C>T (p.Thr371Ile) n.126+71284C>T c.1049C>T (p.Thr350Ile) c.668C>T (p.Thr223Ile) | |
| X | g.85956207G>C | CA413784939 | CHM | c.1112C>G (p.Thr371Ser) n.126+71284C>G c.1049C>G (p.Thr350Ser) c.668C>G (p.Thr223Ser) | |
| X | g.85956207G>T | CA413784940 | CHM | c.1112C>A (p.Thr371Asn) n.126+71284C>A c.1049C>A (p.Thr350Asn) c.668C>A (p.Thr223Asn) | |
| X | g.85956208T>A | CA413784946 | CHM | c.1111A>T (p.Thr371Ser) n.126+71283A>T c.1048A>T (p.Thr350Ser) c.667A>T (p.Thr223Ser) | |
| X | g.85956208T>C | CA413784944 | CHM | c.1111A>G (p.Thr371Ala) n.126+71283A>G c.1048A>G (p.Thr350Ala) c.667A>G (p.Thr223Ala) | |
| X | g.85956208T>G | CA413784943 | CHM | c.1111A>C (p.Thr371Pro) n.126+71283A>C c.1048A>C (p.Thr350Pro) c.667A>C (p.Thr223Pro) | |
| X | g.85956209G>A | CA517490949 | CHM | c.1110C>T (p.Asn370=) n.126+71282C>T c.1047C>T (p.Asn349=) c.666C>T (p.Asn222=) | |
| X | g.85956209G>C | CA413784950 | CHM | c.1110C>G (p.Asn370Lys) n.126+71282C>G c.1047C>G (p.Asn349Lys) c.666C>G (p.Asn222Lys) | |
| X | g.85956209G>T | CA413784952 | CHM | c.1110C>A (p.Asn370Lys) n.126+71282C>A c.1047C>A (p.Asn349Lys) c.666C>A (p.Asn222Lys) | |
| X | g.85956210T>A | CA413784955 | CHM | c.1109A>T (p.Asn370Ile) n.126+71281A>T c.1046A>T (p.Asn349Ile) c.665A>T (p.Asn222Ile) | |
| X | g.85956210T>C | CA413784956 | CHM | c.1109A>G (p.Asn370Ser) n.126+71281A>G c.1046A>G (p.Asn349Ser) c.665A>G (p.Asn222Ser) | |
| X | g.85956210T>G | CA413784957 | CHM | c.1109A>C (p.Asn370Thr) n.126+71281A>C c.1046A>C (p.Asn349Thr) c.665A>C (p.Asn222Thr) | |
| X | g.85956211T>A | CA413784959 | CHM | c.1108A>T (p.Asn370Tyr) n.126+71280A>T c.1045A>T (p.Asn349Tyr) c.664A>T (p.Asn222Tyr) | |
| X | g.85956211T>C | CA413784961 | CHM | c.1108A>G (p.Asn370Asp) n.126+71280A>G c.1045A>G (p.Asn349Asp) c.664A>G (p.Asn222Asp) | |
| X | g.85956211T>G | CA413784962 | CHM | c.1108A>C (p.Asn370His) n.126+71280A>C c.1045A>C (p.Asn349His) c.664A>C (p.Asn222His) | |
| X | g.85956212G>A | CA517490951 | CHM | c.1107C>T (p.Gly369=) n.126+71279C>T c.1044C>T (p.Gly348=) c.663C>T (p.Gly221=) | |
| X | g.85956212G>C | CA517490953 | CHM | c.1107C>G (p.Gly369=) n.126+71279C>G c.1044C>G (p.Gly348=) c.663C>G (p.Gly221=) | |
| X | g.85956212G>T | CA517490952 | CHM | c.1107C>A (p.Gly369=) n.126+71279C>A c.1044C>A (p.Gly348=) c.663C>A (p.Gly221=) | |
| X | g.85956213C>A | CA413784964 | CHM | c.1106G>T (p.Gly369Val) n.126+71278G>T c.1043G>T (p.Gly348Val) c.662G>T (p.Gly221Val) | |
| X | g.85956213C>G | CA413784966 | CHM | c.1106G>C (p.Gly369Ala) n.126+71278G>C c.1043G>C (p.Gly348Ala) c.662G>C (p.Gly221Ala) | |
| X | g.85956213C>T | CA413784967 | CHM | c.1106G>A (p.Gly369Asp) n.126+71278G>A c.1043G>A (p.Gly348Asp) c.662G>A (p.Gly221Asp) | |
| X | g.85956214C>A | CA413784970 | CHM | c.1105G>T (p.Gly369Cys) n.126+71277G>T c.1042G>T (p.Gly348Cys) c.661G>T (p.Gly221Cys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.85956214C= | CA2442478021 | CHM | c.1105G= (p.Gly369=) n.126+71277G= c.1042G= (p.Gly348=) c.661G= (p.Gly221=) | |
| X | g.85956214C>G | CA413784969 | CHM | c.1105G>C (p.Gly369Arg) n.126+71277G>C c.1042G>C (p.Gly348Arg) c.661G>C (p.Gly221Arg) | |
| X | g.85956214C>T | CA413784968 | CHM | c.1105G>A (p.Gly369Ser) n.126+71277G>A c.1042G>A (p.Gly348Ser) c.661G>A (p.Gly221Ser) | |
| X | g.85956215A= | CA2442478022 | CHM | c.1104T= (p.Tyr368=) n.126+71276T= c.1041T= (p.Tyr347=) c.660T= (p.Tyr220=) | |
| X | g.85956215A>C | CA413784972 | CHM | c.1104T>G (p.Tyr368Ter) n.126+71276T>G c.1041T>G (p.Tyr347Ter) c.660T>G (p.Tyr220Ter) | |
| X | g.85956215A>G | CA517490954 | CHM | c.1104T>C (p.Tyr368=) n.126+71276T>C c.1041T>C (p.Tyr347=) c.660T>C (p.Tyr220=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.85956215A>T | CA413784973 | CHM | c.1104T>A (p.Tyr368Ter) n.126+71276T>A c.1041T>A (p.Tyr347Ter) c.660T>A (p.Tyr220Ter) | |
| X | g.85956216T>A | CA413784975 | CHM | c.1103A>T (p.Tyr368Phe) n.126+71275A>T c.1040A>T (p.Tyr347Phe) c.659A>T (p.Tyr220Phe) | |
| X | g.85956216T>C | CA413784977 | CHM | c.1103A>G (p.Tyr368Cys) n.126+71275A>G c.1040A>G (p.Tyr347Cys) c.659A>G (p.Tyr220Cys) | dbSNP |
| X | g.85956216T>G | CA413784979 | CHM | c.1103A>C (p.Tyr368Ser) n.126+71275A>C c.1040A>C (p.Tyr347Ser) c.659A>C (p.Tyr220Ser) | |
| X | g.85956216T= | CA2442478023 | CHM | c.1103A= (p.Tyr368=) n.126+71275A= c.1040A= (p.Tyr347=) c.659A= (p.Tyr220=) |