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.50721097del | CA2657583426 | SHANK3 | c.2865del (p.Ser956ArgfsTer?) n.3449del c.1917del (p.Ser640ArgfsTer?) c.1407del (p.Ser470ArgfsTer?) c.*1863del (n.*1863del) c.3261del (p.Ser1088ArgfsTer?) c.3243del (p.Ser1082ArgfsTer?) | gnomAD v4 |
| 22 | g.50721097C>A | CA515261146 | SHANK3 | c.2865C>A (p.Pro955=) n.3449C>A c.1917C>A (p.Pro639=) c.1407C>A (p.Pro469=) c.*1863C>A (n.*1863C>A) c.3261C>A (p.Pro1087=) c.3243C>A (p.Pro1081=) | COSMIC COSMIC COSMIC |
| 22 | g.50721097C= | CA2411008031 | SHANK3 | c.2865C= (p.Pro955=) n.3449C= c.1917C= (p.Pro639=) c.1407C= (p.Pro469=) c.*1863C= (n.*1863C=) c.3261C= (p.Pro1087=) c.3243C= (p.Pro1081=) | |
| 22 | g.50721097C>G | CA515261147 | SHANK3 | c.2865C>G (p.Pro955=) n.3449C>G c.1917C>G (p.Pro639=) c.1407C>G (p.Pro469=) c.*1863C>G (n.*1863C>G) c.3261C>G (p.Pro1087=) c.3243C>G (p.Pro1081=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721097C>T | CA515261148 | SHANK3 | c.2865C>T (p.Pro955=) n.3449C>T c.1917C>T (p.Pro639=) c.1407C>T (p.Pro469=) c.*1863C>T (n.*1863C>T) c.3261C>T (p.Pro1087=) c.3243C>T (p.Pro1081=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721098T>A | CA515261149 | SHANK3 | c.2866T>A (p.Ser956Thr) n.3450T>A c.1918T>A (p.Ser640Thr) c.1408T>A (p.Ser470Thr) c.*1864T>A (n.*1864T>A) c.3262T>A (p.Ser1088Thr) c.3244T>A (p.Ser1082Thr) | |
| 22 | g.50721098T>C | CA515261150 | SHANK3 | c.2866T>C (p.Ser956Pro) n.3450T>C c.1918T>C (p.Ser640Pro) c.1408T>C (p.Ser470Pro) c.*1864T>C (n.*1864T>C) c.3262T>C (p.Ser1088Pro) c.3244T>C (p.Ser1082Pro) | |
| 22 | g.50721098T>G | CA515261151 | SHANK3 | c.2866T>G (p.Ser956Ala) n.3450T>G c.1918T>G (p.Ser640Ala) c.1408T>G (p.Ser470Ala) c.*1864T>G (n.*1864T>G) c.3262T>G (p.Ser1088Ala) c.3244T>G (p.Ser1082Ala) | |
| 22 | g.50721099C>A | CA515261152 | SHANK3 | c.2867C>A (p.Ser956Ter) n.3451C>A c.1919C>A (p.Ser640Ter) c.1409C>A (p.Ser470Ter) c.*1865C>A (n.*1865C>A) c.3263C>A (p.Ser1088Ter) c.3245C>A (p.Ser1082Ter) | |
| 22 | g.50721099C= | CA2411008032 | SHANK3 | c.2867C= (p.Ser956=) n.3451C= c.1919C= (p.Ser640=) c.1409C= (p.Ser470=) c.*1865C= (n.*1865C=) c.3263C= (p.Ser1088=) c.3245C= (p.Ser1082=) | |
| 22 | g.50721099C>G | CA515261153 | SHANK3 | c.2867C>G (p.Ser956Trp) n.3451C>G c.1919C>G (p.Ser640Trp) c.1409C>G (p.Ser470Trp) c.*1865C>G (n.*1865C>G) c.3263C>G (p.Ser1088Trp) c.3245C>G (p.Ser1082Trp) | gnomAD v4 |
| 22 | g.50721099C>T | CA10325995 | SHANK3 | c.2867C>T (p.Ser956Leu) n.3451C>T c.1919C>T (p.Ser640Leu) c.1409C>T (p.Ser470Leu) c.*1865C>T (n.*1865C>T) c.3263C>T (p.Ser1088Leu) c.3245C>T (p.Ser1082Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721100G>A | CA515261154 | SHANK3 | c.2868G>A (p.Ser956=) n.3452G>A c.1920G>A (p.Ser640=) c.1410G>A (p.Ser470=) c.*1866G>A (n.*1866G>A) c.3264G>A (p.Ser1088=) c.3246G>A (p.Ser1082=) | gnomAD v4 |
| 22 | g.50721100G>C | CA515261155 | SHANK3 | c.2868G>C (p.Ser956=) n.3452G>C c.1920G>C (p.Ser640=) c.1410G>C (p.Ser470=) c.*1866G>C (n.*1866G>C) c.3264G>C (p.Ser1088=) c.3246G>C (p.Ser1082=) | |
| 22 | g.50721100G>T | CA515261156 | SHANK3 | c.2868G>T (p.Ser956=) n.3452G>T c.1920G>T (p.Ser640=) c.1410G>T (p.Ser470=) c.*1866G>T (n.*1866G>T) c.3264G>T (p.Ser1088=) c.3246G>T (p.Ser1082=) | gnomAD v4 |
| 22 | g.50721101G>A | CA515261157 | SHANK3 | c.2869G>A (p.Gly957Ser) n.3453G>A c.1921G>A (p.Gly641Ser) c.1411G>A (p.Gly471Ser) c.*1867G>A (n.*1867G>A) c.3265G>A (p.Gly1089Ser) c.3247G>A (p.Gly1083Ser) | |
| 22 | g.50721101G>C | CA515261158 | SHANK3 | c.2869G>C (p.Gly957Arg) n.3453G>C c.1921G>C (p.Gly641Arg) c.1411G>C (p.Gly471Arg) c.*1867G>C (n.*1867G>C) c.3265G>C (p.Gly1089Arg) c.3247G>C (p.Gly1083Arg) | |
| 22 | g.50721101G= | CA2411008033 | SHANK3 | c.2869G= (p.Gly957=) n.3453G= c.1921G= (p.Gly641=) c.1411G= (p.Gly471=) c.*1867G= (n.*1867G=) c.3265G= (p.Gly1089=) c.3247G= (p.Gly1083=) | |
| 22 | g.50721101G>T | CA515261159 | SHANK3 | c.2869G>T (p.Gly957Cys) n.3453G>T c.1921G>T (p.Gly641Cys) c.1411G>T (p.Gly471Cys) c.*1867G>T (n.*1867G>T) c.3265G>T (p.Gly1089Cys) c.3247G>T (p.Gly1083Cys) | dbSNP |
| 22 | g.50721102G>A | CA515261160 | SHANK3 | c.2870G>A (p.Gly957Asp) n.3454G>A c.1922G>A (p.Gly641Asp) c.1412G>A (p.Gly471Asp) c.*1868G>A (n.*1868G>A) c.3266G>A (p.Gly1089Asp) c.3248G>A (p.Gly1083Asp) | |
| 22 | g.50721102G>C | CA515261161 | SHANK3 | c.2870G>C (p.Gly957Ala) n.3454G>C c.1922G>C (p.Gly641Ala) c.1412G>C (p.Gly471Ala) c.*1868G>C (n.*1868G>C) c.3266G>C (p.Gly1089Ala) c.3248G>C (p.Gly1083Ala) | gnomAD v4 |
| 22 | g.50721102G>T | CA515261162 | SHANK3 | c.2870G>T (p.Gly957Val) n.3454G>T c.1922G>T (p.Gly641Val) c.1412G>T (p.Gly471Val) c.*1868G>T (n.*1868G>T) c.3266G>T (p.Gly1089Val) c.3248G>T (p.Gly1083Val) | |
| 22 | g.50721103T>A | CA515261164 | SHANK3 | c.2871T>A (p.Gly957=) n.3455T>A c.1923T>A (p.Gly641=) c.1413T>A (p.Gly471=) c.*1869T>A (n.*1869T>A) c.3267T>A (p.Gly1089=) c.3249T>A (p.Gly1083=) | |
| 22 | g.50721103T>C | CA515261165 | SHANK3 | c.2871T>C (p.Gly957=) n.3455T>C c.1923T>C (p.Gly641=) c.1413T>C (p.Gly471=) c.*1869T>C (n.*1869T>C) c.3267T>C (p.Gly1089=) c.3249T>C (p.Gly1083=) | |
| 22 | g.50721103T>G | CA515261163 | SHANK3 | c.2871T>G (p.Gly957=) n.3455T>G c.1923T>G (p.Gly641=) c.1413T>G (p.Gly471=) c.*1869T>G (n.*1869T>G) c.3267T>G (p.Gly1089=) c.3249T>G (p.Gly1083=) | |
| 22 | g.50721104T>A | CA515261166 | SHANK3 | c.2872T>A (p.Ser958Thr) n.3456T>A c.1924T>A (p.Ser642Thr) c.1414T>A (p.Ser472Thr) c.*1870T>A (n.*1870T>A) c.3268T>A (p.Ser1090Thr) c.3250T>A (p.Ser1084Thr) | |
| 22 | g.50721104T>C | CA515261167 | SHANK3 | c.2872T>C (p.Ser958Pro) n.3456T>C c.1924T>C (p.Ser642Pro) c.1414T>C (p.Ser472Pro) c.*1870T>C (n.*1870T>C) c.3268T>C (p.Ser1090Pro) c.3250T>C (p.Ser1084Pro) | |
| 22 | g.50721104T>G | CA515261168 | SHANK3 | c.2872T>G (p.Ser958Ala) n.3456T>G c.1924T>G (p.Ser642Ala) c.1414T>G (p.Ser472Ala) c.*1870T>G (n.*1870T>G) c.3268T>G (p.Ser1090Ala) c.3250T>G (p.Ser1084Ala) | gnomAD v4 |
| 22 | g.50721105C>A | CA515261169 | SHANK3 | c.2873C>A (p.Ser958Tyr) n.3457C>A c.1925C>A (p.Ser642Tyr) c.1415C>A (p.Ser472Tyr) c.*1871C>A (n.*1871C>A) c.3269C>A (p.Ser1090Tyr) c.3251C>A (p.Ser1084Tyr) | |
| 22 | g.50721105C>G | CA515261170 | SHANK3 | c.2873C>G (p.Ser958Cys) n.3457C>G c.1925C>G (p.Ser642Cys) c.1415C>G (p.Ser472Cys) c.*1871C>G (n.*1871C>G) c.3269C>G (p.Ser1090Cys) c.3251C>G (p.Ser1084Cys) | |
| 22 | g.50721105C>T | CA515261171 | SHANK3 | c.2873C>T (p.Ser958Phe) n.3457C>T c.1925C>T (p.Ser642Phe) c.1415C>T (p.Ser472Phe) c.*1871C>T (n.*1871C>T) c.3269C>T (p.Ser1090Phe) c.3251C>T (p.Ser1084Phe) | |
| 22 | g.50721106C>A | CA515261172 | SHANK3 | c.2874C>A (p.Ser958=) n.3458C>A c.1926C>A (p.Ser642=) c.1416C>A (p.Ser472=) c.*1872C>A (n.*1872C>A) c.3270C>A (p.Ser1090=) c.3252C>A (p.Ser1084=) | |
| 22 | g.50721106C= | CA2411008034 | SHANK3 | c.2874C= (p.Ser958=) n.3458C= c.1926C= (p.Ser642=) c.1416C= (p.Ser472=) c.*1872C= (n.*1872C=) c.3270C= (p.Ser1090=) c.3252C= (p.Ser1084=) | |
| 22 | g.50721106C>G | CA515261173 | SHANK3 | c.2874C>G (p.Ser958=) n.3458C>G c.1926C>G (p.Ser642=) c.1416C>G (p.Ser472=) c.*1872C>G (n.*1872C>G) c.3270C>G (p.Ser1090=) c.3252C>G (p.Ser1084=) | |
| 22 | g.50721106C>T | CA325578657 | SHANK3 | c.2874C>T (p.Ser958=) n.3458C>T c.1926C>T (p.Ser642=) c.1416C>T (p.Ser472=) c.*1872C>T (n.*1872C>T) c.3270C>T (p.Ser1090=) c.3252C>T (p.Ser1084=) | dbSNP gnomAD v4 |
| 22 | g.50721107A>C | CA515261174 | SHANK3 | c.2875A>C (p.Thr959Pro) n.3459A>C c.1927A>C (p.Thr643Pro) c.1417A>C (p.Thr473Pro) c.*1873A>C (n.*1873A>C) c.3271A>C (p.Thr1091Pro) c.3253A>C (p.Thr1085Pro) | |
| 22 | g.50721107A>G | CA515261175 | SHANK3 | c.2875A>G (p.Thr959Ala) n.3459A>G c.1927A>G (p.Thr643Ala) c.1417A>G (p.Thr473Ala) c.*1873A>G (n.*1873A>G) c.3271A>G (p.Thr1091Ala) c.3253A>G (p.Thr1085Ala) | |
| 22 | g.50721107A>T | CA515261176 | SHANK3 | c.2875A>T (p.Thr959Ser) n.3459A>T c.1927A>T (p.Thr643Ser) c.1417A>T (p.Thr473Ser) c.*1873A>T (n.*1873A>T) c.3271A>T (p.Thr1091Ser) c.3253A>T (p.Thr1085Ser) | |
| 22 | g.50721110_50721143del | CA2580099981 | SHANK3 | c.2878_2911del (p.Phe960ProfsTer?) n.3462_3495del c.1930_1963del (p.Phe644ProfsTer?) c.1420_1453del (p.Phe474ProfsTer?) c.*1876_*1909del (n.*1876_*1909del) c.3274_3307del (p.Phe1092ProfsTer?) c.3256_3289del (p.Phe1086ProfsTer?) | ClinVar |
| 22 | g.50721108C>A | CA515261179 | SHANK3 | c.2876C>A (p.Thr959Asn) n.3460C>A c.1928C>A (p.Thr643Asn) c.1418C>A (p.Thr473Asn) c.*1874C>A (n.*1874C>A) c.3272C>A (p.Thr1091Asn) c.3254C>A (p.Thr1085Asn) | |
| 22 | g.50721108C= | CA2411008035 | SHANK3 | c.2876C= (p.Thr959=) n.3460C= c.1928C= (p.Thr643=) c.1418C= (p.Thr473=) c.*1874C= (n.*1874C=) c.3272C= (p.Thr1091=) c.3254C= (p.Thr1085=) | |
| 22 | g.50721108C>G | CA515261177 | SHANK3 | c.2876C>G (p.Thr959Ser) n.3460C>G c.1928C>G (p.Thr643Ser) c.1418C>G (p.Thr473Ser) c.*1874C>G (n.*1874C>G) c.3272C>G (p.Thr1091Ser) c.3254C>G (p.Thr1085Ser) | |
| 22 | g.50721108C>T | CA515261178 | SHANK3 | c.2876C>T (p.Thr959Ile) n.3460C>T c.1928C>T (p.Thr643Ile) c.1418C>T (p.Thr473Ile) c.*1874C>T (n.*1874C>T) c.3272C>T (p.Thr1091Ile) c.3254C>T (p.Thr1085Ile) | dbSNP gnomAD v4 |
| 22 | g.50721109C>A | CA515261180 | SHANK3 | c.2877C>A (p.Thr959=) n.3461C>A c.1929C>A (p.Thr643=) c.1419C>A (p.Thr473=) c.*1875C>A (n.*1875C>A) c.3273C>A (p.Thr1091=) c.3255C>A (p.Thr1085=) | gnomAD v4 |
| 22 | g.50721109C= | CA2411008036 | SHANK3 | c.2877C= (p.Thr959=) n.3461C= c.1929C= (p.Thr643=) c.1419C= (p.Thr473=) c.*1875C= (n.*1875C=) c.3273C= (p.Thr1091=) c.3255C= (p.Thr1085=) | |
| 22 | g.50721109C>G | CA515261181 | SHANK3 | c.2877C>G (p.Thr959=) n.3461C>G c.1929C>G (p.Thr643=) c.1419C>G (p.Thr473=) c.*1875C>G (n.*1875C>G) c.3273C>G (p.Thr1091=) c.3255C>G (p.Thr1085=) | |
| 22 | g.50721109C>T | CA10325996 | SHANK3 | c.2877C>T (p.Thr959=) n.3461C>T c.1929C>T (p.Thr643=) c.1419C>T (p.Thr473=) c.*1875C>T (n.*1875C>T) c.3273C>T (p.Thr1091=) c.3255C>T (p.Thr1085=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721110T>A | CA515261182 | SHANK3 | c.2878T>A (p.Phe960Ile) n.3462T>A c.1930T>A (p.Phe644Ile) c.1420T>A (p.Phe474Ile) c.*1876T>A (n.*1876T>A) c.3274T>A (p.Phe1092Ile) c.3256T>A (p.Phe1086Ile) | |
| 22 | g.50721110T>C | CA515261183 | SHANK3 | c.2878T>C (p.Phe960Leu) n.3462T>C c.1930T>C (p.Phe644Leu) c.1420T>C (p.Phe474Leu) c.*1876T>C (n.*1876T>C) c.3274T>C (p.Phe1092Leu) c.3256T>C (p.Phe1086Leu) | gnomAD v4 |
| 22 | g.50721110T>G | CA515261184 | SHANK3 | c.2878T>G (p.Phe960Val) n.3462T>G c.1930T>G (p.Phe644Val) c.1420T>G (p.Phe474Val) c.*1876T>G (n.*1876T>G) c.3274T>G (p.Phe1092Val) c.3256T>G (p.Phe1086Val) |