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 |
|---|---|---|---|---|---|
| 22 | g.50720992C>A | CA515260867 | SHANK3 | c.2760C>A (p.Ile920=) n.3344C>A c.1812C>A (p.Ile604=) c.1302C>A (p.Ile434=) c.*1758C>A (n.*1758C>A) c.3156C>A (p.Ile1052=) c.3138C>A (p.Ile1046=) | |
| 22 | g.50720992C= | CA2411007961 | SHANK3 | c.2760C= (p.Ile920=) n.3344C= c.1812C= (p.Ile604=) c.1302C= (p.Ile434=) c.*1758C= (n.*1758C=) c.3156C= (p.Ile1052=) c.3138C= (p.Ile1046=) | |
| 22 | g.50720992C>G | CA515260868 | SHANK3 | c.2760C>G (p.Ile920Met) n.3344C>G c.1812C>G (p.Ile604Met) c.1302C>G (p.Ile434Met) c.*1758C>G (n.*1758C>G) c.3156C>G (p.Ile1052Met) c.3138C>G (p.Ile1046Met) | |
| 22 | g.50720992C>T | CA515260869 | SHANK3 | c.2760C>T (p.Ile920=) n.3344C>T c.1812C>T (p.Ile604=) c.1302C>T (p.Ile434=) c.*1758C>T (n.*1758C>T) c.3156C>T (p.Ile1052=) c.3138C>T (p.Ile1046=) | dbSNP gnomAD v4 |
| 22 | g.50720993G>A | CA515260870 | SHANK3 | c.2761G>A (p.Asp921Asn) n.3345G>A c.1813G>A (p.Asp605Asn) c.1303G>A (p.Asp435Asn) c.*1759G>A (n.*1759G>A) c.3157G>A (p.Asp1053Asn) c.3139G>A (p.Asp1047Asn) | gnomAD v4 |
| 22 | g.50720993G>C | CA515260872 | SHANK3 | c.2761G>C (p.Asp921His) n.3345G>C c.1813G>C (p.Asp605His) c.1303G>C (p.Asp435His) c.*1759G>C (n.*1759G>C) c.3157G>C (p.Asp1053His) c.3139G>C (p.Asp1047His) | |
| 22 | g.50720993G>T | CA515260871 | SHANK3 | c.2761G>T (p.Asp921Tyr) n.3345G>T c.1813G>T (p.Asp605Tyr) c.1303G>T (p.Asp435Tyr) c.*1759G>T (n.*1759G>T) c.3157G>T (p.Asp1053Tyr) c.3139G>T (p.Asp1047Tyr) | gnomAD v4 |
| 22 | g.50720994A>C | CA515260873 | SHANK3 | c.2762A>C (p.Asp921Ala) n.3346A>C c.1814A>C (p.Asp605Ala) c.1304A>C (p.Asp435Ala) c.*1760A>C (n.*1760A>C) c.3158A>C (p.Asp1053Ala) c.3140A>C (p.Asp1047Ala) | |
| 22 | g.50720994A>G | CA515260874 | SHANK3 | c.2762A>G (p.Asp921Gly) n.3346A>G c.1814A>G (p.Asp605Gly) c.1304A>G (p.Asp435Gly) c.*1760A>G (n.*1760A>G) c.3158A>G (p.Asp1053Gly) c.3140A>G (p.Asp1047Gly) | |
| 22 | g.50720994A>T | CA515260875 | SHANK3 | c.2762A>T (p.Asp921Val) n.3346A>T c.1814A>T (p.Asp605Val) c.1304A>T (p.Asp435Val) c.*1760A>T (n.*1760A>T) c.3158A>T (p.Asp1053Val) c.3140A>T (p.Asp1047Val) | |
| 22 | g.50720995C>A | CA515260876 | SHANK3 | c.2763C>A (p.Asp921Glu) n.3347C>A c.1815C>A (p.Asp605Glu) c.1305C>A (p.Asp435Glu) c.*1761C>A (n.*1761C>A) c.3159C>A (p.Asp1053Glu) c.3141C>A (p.Asp1047Glu) | gnomAD v4 |
| 22 | g.50720995C= | CA2411007962 | SHANK3 | c.2763C= (p.Asp921=) n.3347C= c.1815C= (p.Asp605=) c.1305C= (p.Asp435=) c.*1761C= (n.*1761C=) c.3159C= (p.Asp1053=) c.3141C= (p.Asp1047=) | |
| 22 | g.50720995C>G | CA515260877 | SHANK3 | c.2763C>G (p.Asp921Glu) n.3347C>G c.1815C>G (p.Asp605Glu) c.1305C>G (p.Asp435Glu) c.*1761C>G (n.*1761C>G) c.3159C>G (p.Asp1053Glu) c.3141C>G (p.Asp1047Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720995C>T | CA10325967 | SHANK3 | c.2763C>T (p.Asp921=) n.3347C>T c.1815C>T (p.Asp605=) c.1305C>T (p.Asp435=) c.*1761C>T (n.*1761C>T) c.3159C>T (p.Asp1053=) c.3141C>T (p.Asp1047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720996del | CA2573158312 | SHANK3 | c.2764del (p.Glu922SerfsTer23) n.3348del c.1816del (p.Glu606SerfsTer23) c.1306del (p.Glu436SerfsTer23) c.*1762del (n.*1762del) c.3160del (p.Glu1054SerfsTer23) c.3142del (p.Glu1048SerfsTer23) | ClinVar dbSNP |
| 22 | g.50720996G>A | CA515260878 | SHANK3 | c.2764G>A (p.Glu922Lys) n.3348G>A c.1816G>A (p.Glu606Lys) c.1306G>A (p.Glu436Lys) c.*1762G>A (n.*1762G>A) c.3160G>A (p.Glu1054Lys) c.3142G>A (p.Glu1048Lys) | gnomAD v4 |
| 22 | g.50720996G>C | CA515260879 | SHANK3 | c.2764G>C (p.Glu922Gln) n.3348G>C c.1816G>C (p.Glu606Gln) c.1306G>C (p.Glu436Gln) c.*1762G>C (n.*1762G>C) c.3160G>C (p.Glu1054Gln) c.3142G>C (p.Glu1048Gln) | |
| 22 | g.50720996G>T | CA515260880 | SHANK3 | c.2764G>T (p.Glu922Ter) n.3348G>T c.1816G>T (p.Glu606Ter) c.1306G>T (p.Glu436Ter) c.*1762G>T (n.*1762G>T) c.3160G>T (p.Glu1054Ter) c.3142G>T (p.Glu1048Ter) | gnomAD v4 |
| 22 | g.50720997del | CA2580615344 | SHANK3 | c.2765del (p.Glu922GlyfsTer23) n.3349del c.1817del (p.Glu606GlyfsTer23) c.1307del (p.Glu436GlyfsTer23) c.*1763del (n.*1763del) c.3161del (p.Glu1054GlyfsTer23) c.3143del (p.Glu1048GlyfsTer23) | ClinVar |
| 22 | g.50720997A>C | CA515260881 | SHANK3 | c.2765A>C (p.Glu922Ala) n.3349A>C c.1817A>C (p.Glu606Ala) c.1307A>C (p.Glu436Ala) c.*1763A>C (n.*1763A>C) c.3161A>C (p.Glu1054Ala) c.3143A>C (p.Glu1048Ala) | |
| 22 | g.50720997A>G | CA515260882 | SHANK3 | c.2765A>G (p.Glu922Gly) n.3349A>G c.1817A>G (p.Glu606Gly) c.1307A>G (p.Glu436Gly) c.*1763A>G (n.*1763A>G) c.3161A>G (p.Glu1054Gly) c.3143A>G (p.Glu1048Gly) | |
| 22 | g.50720997A>T | CA515260883 | SHANK3 | c.2765A>T (p.Glu922Val) n.3349A>T c.1817A>T (p.Glu606Val) c.1307A>T (p.Glu436Val) c.*1763A>T (n.*1763A>T) c.3161A>T (p.Glu1054Val) c.3143A>T (p.Glu1048Val) | |
| 22 | g.50720998G>A | CA515260884 | SHANK3 | c.2766G>A (p.Glu922=) n.3350G>A c.1818G>A (p.Glu606=) c.1308G>A (p.Glu436=) c.*1764G>A (n.*1764G>A) c.3162G>A (p.Glu1054=) c.3144G>A (p.Glu1048=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720998G>C | CA325578545 | SHANK3 | c.2766G>C (p.Glu922Asp) n.3350G>C c.1818G>C (p.Glu606Asp) c.1308G>C (p.Glu436Asp) c.*1764G>C (n.*1764G>C) c.3162G>C (p.Glu1054Asp) c.3144G>C (p.Glu1048Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720998G= | CA2411007963 | SHANK3 | c.2766G= (p.Glu922=) n.3350G= c.1818G= (p.Glu606=) c.1308G= (p.Glu436=) c.*1764G= (n.*1764G=) c.3162G= (p.Glu1054=) c.3144G= (p.Glu1048=) | |
| 22 | g.50720998G>T | CA515260885 | SHANK3 | c.2766G>T (p.Glu922Asp) n.3350G>T c.1818G>T (p.Glu606Asp) c.1308G>T (p.Glu436Asp) c.*1764G>T (n.*1764G>T) c.3162G>T (p.Glu1054Asp) c.3144G>T (p.Glu1048Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720999C>A | CA515260886 | SHANK3 | c.2767C>A (p.Arg923Ser) n.3351C>A c.1819C>A (p.Arg607Ser) c.1309C>A (p.Arg437Ser) c.*1765C>A (n.*1765C>A) c.3163C>A (p.Arg1055Ser) c.3145C>A (p.Arg1049Ser) | gnomAD v4 |
| 22 | g.50720999C>G | CA515260887 | SHANK3 | c.2767C>G (p.Arg923Gly) n.3351C>G c.1819C>G (p.Arg607Gly) c.1309C>G (p.Arg437Gly) c.*1765C>G (n.*1765C>G) c.3163C>G (p.Arg1055Gly) c.3145C>G (p.Arg1049Gly) | |
| 22 | g.50720999C>T | CA515260888 | SHANK3 | c.2767C>T (p.Arg923Cys) n.3351C>T c.1819C>T (p.Arg607Cys) c.1309C>T (p.Arg437Cys) c.*1765C>T (n.*1765C>T) c.3163C>T (p.Arg1055Cys) c.3145C>T (p.Arg1049Cys) | gnomAD v4 |
| 22 | g.50721000G>A | CA515260889 | SHANK3 | c.2768G>A (p.Arg923His) n.3352G>A c.1820G>A (p.Arg607His) c.1310G>A (p.Arg437His) c.*1766G>A (n.*1766G>A) c.3164G>A (p.Arg1055His) c.3146G>A (p.Arg1049His) | gnomAD v4 |
| 22 | g.50721000G>C | CA515260890 | SHANK3 | c.2768G>C (p.Arg923Pro) n.3352G>C c.1820G>C (p.Arg607Pro) c.1310G>C (p.Arg437Pro) c.*1766G>C (n.*1766G>C) c.3164G>C (p.Arg1055Pro) c.3146G>C (p.Arg1049Pro) | |
| 22 | g.50721000G>T | CA515260891 | SHANK3 | c.2768G>T (p.Arg923Leu) n.3352G>T c.1820G>T (p.Arg607Leu) c.1310G>T (p.Arg437Leu) c.*1766G>T (n.*1766G>T) c.3164G>T (p.Arg1055Leu) c.3146G>T (p.Arg1049Leu) | gnomAD v4 |
| 22 | g.50721001C>A | CA515260892 | SHANK3 | c.2769C>A (p.Arg923=) n.3353C>A c.1821C>A (p.Arg607=) c.1311C>A (p.Arg437=) c.*1767C>A (n.*1767C>A) c.3165C>A (p.Arg1055=) c.3147C>A (p.Arg1049=) | |
| 22 | g.50721001C= | CA2411007964 | SHANK3 | c.2769C= (p.Arg923=) n.3353C= c.1821C= (p.Arg607=) c.1311C= (p.Arg437=) c.*1767C= (n.*1767C=) c.3165C= (p.Arg1055=) c.3147C= (p.Arg1049=) | |
| 22 | g.50721001C>G | CA515260893 | SHANK3 | c.2769C>G (p.Arg923=) n.3353C>G c.1821C>G (p.Arg607=) c.1311C>G (p.Arg437=) c.*1767C>G (n.*1767C>G) c.3165C>G (p.Arg1055=) c.3147C>G (p.Arg1049=) | |
| 22 | g.50721001C>T | CA515260894 | SHANK3 | c.2769C>T (p.Arg923=) n.3353C>T c.1821C>T (p.Arg607=) c.1311C>T (p.Arg437=) c.*1767C>T (n.*1767C>T) c.3165C>T (p.Arg1055=) c.3147C>T (p.Arg1049=) | dbSNP |
| 22 | g.50721002C>A | CA515260895 | SHANK3 | c.2770C>A (p.Leu924Ile) n.3354C>A c.1822C>A (p.Leu608Ile) c.1312C>A (p.Leu438Ile) c.*1768C>A (n.*1768C>A) c.3166C>A (p.Leu1056Ile) c.3148C>A (p.Leu1050Ile) | |
| 22 | g.50721002C= | CA2411007965 | SHANK3 | c.2770C= (p.Leu924=) n.3354C= c.1822C= (p.Leu608=) c.1312C= (p.Leu438=) c.*1768C= (n.*1768C=) c.3166C= (p.Leu1056=) c.3148C= (p.Leu1050=) | |
| 22 | g.50721002C>G | CA515260896 | SHANK3 | c.2770C>G (p.Leu924Val) n.3354C>G c.1822C>G (p.Leu608Val) c.1312C>G (p.Leu438Val) c.*1768C>G (n.*1768C>G) c.3166C>G (p.Leu1056Val) c.3148C>G (p.Leu1050Val) | dbSNP |
| 22 | g.50721002C>T | CA325578549 | SHANK3 | c.2770C>T (p.Leu924Phe) n.3354C>T c.1822C>T (p.Leu608Phe) c.1312C>T (p.Leu438Phe) c.*1768C>T (n.*1768C>T) c.3166C>T (p.Leu1056Phe) c.3148C>T (p.Leu1050Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721003T>A | CA515260899 | SHANK3 | c.2771T>A (p.Leu924His) n.3355T>A c.1823T>A (p.Leu608His) c.1313T>A (p.Leu438His) c.*1769T>A (n.*1769T>A) c.3167T>A (p.Leu1056His) c.3149T>A (p.Leu1050His) | |
| 22 | g.50721003T>C | CA515260898 | SHANK3 | c.2771T>C (p.Leu924Pro) n.3355T>C c.1823T>C (p.Leu608Pro) c.1313T>C (p.Leu438Pro) c.*1769T>C (n.*1769T>C) c.3167T>C (p.Leu1056Pro) c.3149T>C (p.Leu1050Pro) | |
| 22 | g.50721003T>G | CA515260897 | SHANK3 | c.2771T>G (p.Leu924Arg) n.3355T>G c.1823T>G (p.Leu608Arg) c.1313T>G (p.Leu438Arg) c.*1769T>G (n.*1769T>G) c.3167T>G (p.Leu1056Arg) c.3149T>G (p.Leu1050Arg) | |
| 22 | g.50721004C>A | CA10325968 | SHANK3 | c.2772C>A (p.Leu924=) n.3356C>A c.1824C>A (p.Leu608=) c.1314C>A (p.Leu438=) c.*1770C>A (n.*1770C>A) c.3168C>A (p.Leu1056=) c.3150C>A (p.Leu1050=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721004C= | CA2411007966 | SHANK3 | c.2772C= (p.Leu924=) n.3356C= c.1824C= (p.Leu608=) c.1314C= (p.Leu438=) c.*1770C= (n.*1770C=) c.3168C= (p.Leu1056=) c.3150C= (p.Leu1050=) | |
| 22 | g.50721004C>G | CA515260900 | SHANK3 | c.2772C>G (p.Leu924=) n.3356C>G c.1824C>G (p.Leu608=) c.1314C>G (p.Leu438=) c.*1770C>G (n.*1770C>G) c.3168C>G (p.Leu1056=) c.3150C>G (p.Leu1050=) | |
| 22 | g.50721004C>T | CA10325969 | SHANK3 | c.2772C>T (p.Leu924=) n.3356C>T c.1824C>T (p.Leu608=) c.1314C>T (p.Leu438=) c.*1770C>T (n.*1770C>T) c.3168C>T (p.Leu1056=) c.3150C>T (p.Leu1050=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721005C>A | CA515260901 | SHANK3 | c.2773C>A (p.Leu925Met) n.3357C>A c.1825C>A (p.Leu609Met) c.1315C>A (p.Leu439Met) c.*1771C>A (n.*1771C>A) c.3169C>A (p.Leu1057Met) c.3151C>A (p.Leu1051Met) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721005C= | CA2411007967 | SHANK3 | c.2773C= (p.Leu925=) n.3357C= c.1825C= (p.Leu609=) c.1315C= (p.Leu439=) c.*1771C= (n.*1771C=) c.3169C= (p.Leu1057=) c.3151C= (p.Leu1051=) | |
| 22 | g.50721005C>G | CA515260902 | SHANK3 | c.2773C>G (p.Leu925Val) n.3357C>G c.1825C>G (p.Leu609Val) c.1315C>G (p.Leu439Val) c.*1771C>G (n.*1771C>G) c.3169C>G (p.Leu1057Val) c.3151C>G (p.Leu1051Val) |