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 |
|---|---|---|---|---|---|
| 19 | g.40396158_40396343dup | CA2573156370 | PRX | c.2028_2213dup (p.Pro738_Asp739insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) c.1611_1796dup (p.Pro599_Asp600insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) c.2313_2498dup (p.Pro833_Asp834insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) c.1903_2088dup c.1889_2074dup c.1990_2175dup c.1915_2100dup c.*2233_*2418dup (n.*2233_*2418dup) c.1926_2111dup (p.Pro704_Asp705insGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValCysGluMetLysValProAspMetLysLeuProGluIleLysLeuProLysValProGluMetAlaValPro) | ClinVar dbSNP |
| 19 | g.40396258_40396521dup | CA2580097269 | PRX | c.1860_2123dup (p.Glu708_Val709insValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGlu) c.1443_1706dup (p.Glu569_Val570insValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGlu) c.2145_2408dup (p.Glu803_Val804insValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGlu) c.1735_1998dup c.1721_1984dup c.1822_2085dup c.1747_2010dup c.*2065_*2328dup (n.*2065_*2328dup) c.1758_2021dup (p.Glu674_Val675insValGlnLeuProLysValProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGlu) | ClinVar |
| 19 | g.40396258_40396521del | CA995889408 | PRX | c.1860_2123del (p.Val621_Glu708del) c.1443_1706del (p.Val482_Glu569del) c.2145_2408del (p.Val716_Glu803del) c.1735_1998del c.1721_1984del c.1822_2085del c.1747_2010del c.*2065_*2328del (n.*2065_*2328del) c.1758_2021del (p.Val587_Glu674del) | gnomAD v3 gnomAD v4 |
| 19 | g.40396252_40396407del | CA995889434 | PRX | c.1965_2120del (p.Glu656_Pro707del) c.1548_1703del (p.Glu517_Pro568del) c.2250_2405del (p.Glu751_Pro802del) c.1840_1995del c.1826_1981del c.1927_2082del c.1852_2007del c.*2170_*2325del (n.*2170_*2325del) c.1863_2018del (p.Glu622_Pro673del) | gnomAD v3 gnomAD v4 |
| 19 | g.40396258_40396413del | CA995889466 | PRX | c.1944_2099del (p.Val649_Ala700del) c.1527_1682del (p.Val510_Ala561del) c.2229_2384del (p.Val744_Ala795del) c.1819_1974del c.1805_1960del c.1906_2061del c.1831_1986del c.*2149_*2304del (n.*2149_*2304del) c.1842_1997del (p.Val615_Ala666del) | gnomAD v3 gnomAD v4 |
| 19 | g.40396306_40396344del | CA633466294 | PRX | c.2008_2046del (p.Met670_Glu682del) c.1591_1629del (p.Met531_Glu543del) c.2293_2331del (p.Met765_Glu777del) c.1883_1921del c.1869_1907del c.1970_2008del c.1895_1933del c.*2213_*2251del (n.*2213_*2251del) c.1906_1944del (p.Met636_Glu648del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396320C>A | CA405897144 | PRX | c.2032G>T (p.Val678Phe) c.1615G>T (p.Val539Phe) c.2317G>T (p.Val773Phe) c.1907G>T c.1893G>T c.1994G>T c.1919G>T c.*2237G>T (n.*2237G>T) c.1930G>T (p.Val644Phe) | ClinVar |
| 19 | g.40396320C>G | CA405897145 | PRX | c.2032G>C (p.Val678Leu) c.1615G>C (p.Val539Leu) c.2317G>C (p.Val773Leu) c.1907G>C c.1893G>C c.1994G>C c.1919G>C c.*2237G>C (n.*2237G>C) c.1930G>C (p.Val644Leu) | |
| 19 | g.40396320C>T | CA405897146 | PRX | c.2032G>A (p.Val678Ile) c.1615G>A (p.Val539Ile) c.2317G>A (p.Val773Ile) c.1907G>A c.1893G>A c.1994G>A c.1919G>A c.*2237G>A (n.*2237G>A) c.1930G>A (p.Val644Ile) | |
| 19 | g.40396321C>A | CA308419772 | PRX | c.2031G>T (p.Glu677Asp) c.1614G>T (p.Glu538Asp) c.2316G>T (p.Glu772Asp) c.1906G>T c.1892G>T c.1993G>T c.1918G>T c.*2236G>T (n.*2236G>T) c.1929G>T (p.Glu643Asp) | dbSNP |
| 19 | g.40396321C= | CA2335961579 | PRX | c.2031G= (p.Glu677=) c.1614G= (p.Glu538=) c.2316G= (p.Glu772=) c.1906G= c.1892G= c.1993G= c.1918G= c.*2236G= (n.*2236G=) c.1929G= (p.Glu643=) | |
| 19 | g.40396321C>G | CA405897147 | PRX | c.2031G>C (p.Glu677Asp) c.1614G>C (p.Glu538Asp) c.2316G>C (p.Glu772Asp) c.1906G>C c.1892G>C c.1993G>C c.1918G>C c.*2236G>C (n.*2236G>C) c.1929G>C (p.Glu643Asp) | |
| 19 | g.40396321C>T | CA9444136 | PRX | c.2031G>A (p.Glu677=) c.1614G>A (p.Glu538=) c.2316G>A (p.Glu772=) c.1906G>A c.1892G>A c.1993G>A c.1918G>A c.*2236G>A (n.*2236G>A) c.1929G>A (p.Glu643=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396322T>A | CA405897150 | PRX | c.2030A>T (p.Glu677Val) c.1613A>T (p.Glu538Val) c.2315A>T (p.Glu772Val) c.1905A>T c.1891A>T c.1992A>T c.1917A>T c.*2235A>T (n.*2235A>T) c.1928A>T (p.Glu643Val) | |
| 19 | g.40396322T>C | CA405897149 | PRX | c.2030A>G (p.Glu677Gly) c.1613A>G (p.Glu538Gly) c.2315A>G (p.Glu772Gly) c.1905A>G c.1891A>G c.1992A>G c.1917A>G c.*2235A>G (n.*2235A>G) c.1928A>G (p.Glu643Gly) | |
| 19 | g.40396322T>G | CA405897148 | PRX | c.2030A>C (p.Glu677Ala) c.1613A>C (p.Glu538Ala) c.2315A>C (p.Glu772Ala) c.1905A>C c.1891A>C c.1992A>C c.1917A>C c.*2235A>C (n.*2235A>C) c.1928A>C (p.Glu643Ala) | |
| 19 | g.40396323C>A | CA405897151 | PRX | c.2029G>T (p.Glu677Ter) c.1612G>T (p.Glu538Ter) c.2314G>T (p.Glu772Ter) c.1904G>T c.1890G>T c.1991G>T c.1916G>T c.*2234G>T (n.*2234G>T) c.1927G>T (p.Glu643Ter) | |
| 19 | g.40396323C>G | CA405897152 | PRX | c.2029G>C (p.Glu677Gln) c.1612G>C (p.Glu538Gln) c.2314G>C (p.Glu772Gln) c.1904G>C c.1890G>C c.1991G>C c.1916G>C c.*2234G>C (n.*2234G>C) c.1927G>C (p.Glu643Gln) | |
| 19 | g.40396323C>T | CA405897153 | PRX | c.2029G>A (p.Glu677Lys) c.1612G>A (p.Glu538Lys) c.2314G>A (p.Glu772Lys) c.1904G>A c.1890G>A c.1991G>A c.1916G>A c.*2234G>A (n.*2234G>A) c.1927G>A (p.Glu643Lys) | COSMIC |
| 19 | g.40396324T>A | CA507679571 | PRX | c.2028A>T (p.Pro676=) c.1611A>T (p.Pro537=) c.2313A>T (p.Pro771=) c.1903A>T c.1889A>T c.1990A>T c.1915A>T c.*2233A>T (n.*2233A>T) c.1926A>T (p.Pro642=) | |
| 19 | g.40396324T>C | CA507679572 | PRX | c.2028A>G (p.Pro676=) c.1611A>G (p.Pro537=) c.2313A>G (p.Pro771=) c.1903A>G c.1889A>G c.1990A>G c.1915A>G c.*2233A>G (n.*2233A>G) c.1926A>G (p.Pro642=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396324T>G | CA507679573 | PRX | c.2028A>C (p.Pro676=) c.1611A>C (p.Pro537=) c.2313A>C (p.Pro771=) c.1903A>C c.1889A>C c.1990A>C c.1915A>C c.*2233A>C (n.*2233A>C) c.1926A>C (p.Pro642=) | |
| 19 | g.40396325G>A | CA405897154 | PRX | c.2027C>T (p.Pro676Leu) c.1610C>T (p.Pro537Leu) c.2312C>T (p.Pro771Leu) c.1902C>T c.1888C>T c.1989C>T c.1914C>T c.*2232C>T (n.*2232C>T) c.1925C>T (p.Pro642Leu) | |
| 19 | g.40396325G>C | CA405897155 | PRX | c.2027C>G (p.Pro676Arg) c.1610C>G (p.Pro537Arg) c.2312C>G (p.Pro771Arg) c.1902C>G c.1888C>G c.1989C>G c.1914C>G c.*2232C>G (n.*2232C>G) c.1925C>G (p.Pro642Arg) | |
| 19 | g.40396325G>T | CA405897156 | PRX | c.2027C>A (p.Pro676Gln) c.1610C>A (p.Pro537Gln) c.2312C>A (p.Pro771Gln) c.1902C>A c.1888C>A c.1989C>A c.1914C>A c.*2232C>A (n.*2232C>A) c.1925C>A (p.Pro642Gln) | |
| 19 | g.40396326G>A | CA405897157 | PRX | c.2026C>T (p.Pro676Ser) c.1609C>T (p.Pro537Ser) c.2311C>T (p.Pro771Ser) c.1901C>T c.1887C>T c.1988C>T c.1913C>T c.*2231C>T (n.*2231C>T) c.1924C>T (p.Pro642Ser) | |
| 19 | g.40396326G>C | CA405897158 | PRX | c.2026C>G (p.Pro676Ala) c.1609C>G (p.Pro537Ala) c.2311C>G (p.Pro771Ala) c.1901C>G c.1887C>G c.1988C>G c.1913C>G c.*2231C>G (n.*2231C>G) c.1924C>G (p.Pro642Ala) | |
| 19 | g.40396326G>T | CA405897159 | PRX | c.2026C>A (p.Pro676Thr) c.1609C>A (p.Pro537Thr) c.2311C>A (p.Pro771Thr) c.1901C>A c.1887C>A c.1988C>A c.1913C>A c.*2231C>A (n.*2231C>A) c.1924C>A (p.Pro642Thr) | |
| 19 | g.40396327C>A | CA507679574 | PRX | c.2025G>T (p.Val675=) c.1608G>T (p.Val536=) c.2310G>T (p.Val770=) c.1900G>T c.1886G>T c.1987G>T c.1912G>T c.*2230G>T (n.*2230G>T) c.1923G>T (p.Val641=) | |
| 19 | g.40396327C>G | CA507679576 | PRX | c.2025G>C (p.Val675=) c.1608G>C (p.Val536=) c.2310G>C (p.Val770=) c.1900G>C c.1886G>C c.1987G>C c.1912G>C c.*2230G>C (n.*2230G>C) c.1923G>C (p.Val641=) | |
| 19 | g.40396327C>T | CA507679575 | PRX | c.2025G>A (p.Val675=) c.1608G>A (p.Val536=) c.2310G>A (p.Val770=) c.1900G>A c.1886G>A c.1987G>A c.1912G>A c.*2230G>A (n.*2230G>A) c.1923G>A (p.Val641=) | |
| 19 | g.40396328A>C | CA405897160 | PRX | c.2024T>G (p.Val675Gly) c.1607T>G (p.Val536Gly) c.2309T>G (p.Val770Gly) c.1899T>G c.1885T>G c.1986T>G c.1911T>G c.*2229T>G (n.*2229T>G) c.1922T>G (p.Val641Gly) | |
| 19 | g.40396328A>G | CA405897161 | PRX | c.2024T>C (p.Val675Ala) c.1607T>C (p.Val536Ala) c.2309T>C (p.Val770Ala) c.1899T>C c.1885T>C c.1986T>C c.1911T>C c.*2229T>C (n.*2229T>C) c.1922T>C (p.Val641Ala) | |
| 19 | g.40396328A>T | CA405897162 | PRX | c.2024T>A (p.Val675Glu) c.1607T>A (p.Val536Glu) c.2309T>A (p.Val770Glu) c.1899T>A c.1885T>A c.1986T>A c.1911T>A c.*2229T>A (n.*2229T>A) c.1922T>A (p.Val641Glu) | |
| 19 | g.40396329C>A | CA405897165 | PRX | c.2023G>T (p.Val675Leu) c.1606G>T (p.Val536Leu) c.2308G>T (p.Val770Leu) c.1898G>T c.1884G>T c.1985G>T c.1910G>T c.*2228G>T (n.*2228G>T) c.1921G>T (p.Val641Leu) | |
| 19 | g.40396329C= | CA2335961580 | PRX | c.2023G= (p.Val675=) c.1606G= (p.Val536=) c.2308G= (p.Val770=) c.1898G= c.1884G= c.1985G= c.1910G= c.*2228G= (n.*2228G=) c.1921G= (p.Val641=) | |
| 19 | g.40396329C>G | CA405897164 | PRX | c.2023G>C (p.Val675Leu) c.1606G>C (p.Val536Leu) c.2308G>C (p.Val770Leu) c.1898G>C c.1884G>C c.1985G>C c.1910G>C c.*2228G>C (n.*2228G>C) c.1921G>C (p.Val641Leu) | |
| 19 | g.40396329C>T | CA405897163 | PRX | c.2023G>A (p.Val675Met) c.1606G>A (p.Val536Met) c.2308G>A (p.Val770Met) c.1898G>A c.1884G>A c.1985G>A c.1910G>A c.*2228G>A (n.*2228G>A) c.1921G>A (p.Val641Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396330A= | CA2335961581 | PRX | c.2022T= (p.Ala674=) c.1605T= (p.Ala535=) c.2307T= (p.Ala769=) c.1897T= c.1883T= c.1984T= c.1909T= c.*2227T= (n.*2227T=) c.1920T= (p.Ala640=) | |
| 19 | g.40396330A>C | CA507679577 | PRX | c.2022T>G (p.Ala674=) c.1605T>G (p.Ala535=) c.2307T>G (p.Ala769=) c.1897T>G c.1883T>G c.1984T>G c.1909T>G c.*2227T>G (n.*2227T>G) c.1920T>G (p.Ala640=) | |
| 19 | g.40396330A>G | CA9444137 | PRX | c.2022T>C (p.Ala674=) c.1605T>C (p.Ala535=) c.2307T>C (p.Ala769=) c.1897T>C c.1883T>C c.1984T>C c.1909T>C c.*2227T>C (n.*2227T>C) c.1920T>C (p.Ala640=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396330A>T | CA507679578 | PRX | c.2022T>A (p.Ala674=) c.1605T>A (p.Ala535=) c.2307T>A (p.Ala769=) c.1897T>A c.1883T>A c.1984T>A c.1909T>A c.*2227T>A (n.*2227T>A) c.1920T>A (p.Ala640=) | |
| 19 | g.40396331G>A | CA405897168 | PRX | c.2021C>T (p.Ala674Val) c.1604C>T (p.Ala535Val) c.2306C>T (p.Ala769Val) c.1896C>T c.1882C>T c.1983C>T c.1908C>T c.*2226C>T (n.*2226C>T) c.1919C>T (p.Ala640Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396331G>C | CA405897166 | PRX | c.2021C>G (p.Ala674Gly) c.1604C>G (p.Ala535Gly) c.2306C>G (p.Ala769Gly) c.1896C>G c.1882C>G c.1983C>G c.1908C>G c.*2226C>G (n.*2226C>G) c.1919C>G (p.Ala640Gly) | |
| 19 | g.40396331G= | CA2335961582 | PRX | c.2021C= (p.Ala674=) c.1604C= (p.Ala535=) c.2306C= (p.Ala769=) c.1896C= c.1882C= c.1983C= c.1908C= c.*2226C= (n.*2226C=) c.1919C= (p.Ala640=) | |
| 19 | g.40396331G>T | CA405897167 | PRX | c.2021C>A (p.Ala674Asp) c.1604C>A (p.Ala535Asp) c.2306C>A (p.Ala769Asp) c.1896C>A c.1882C>A c.1983C>A c.1908C>A c.*2226C>A (n.*2226C>A) c.1919C>A (p.Ala640Asp) | |
| 19 | g.40396331_40396332delinsGC | CA2335961583 | PRX | c.2020_2021delinsGC (p.Ala674=) c.1603_1604delinsGC (p.Ala535=) c.2305_2306delinsGC (p.Ala769=) c.1895_1896delinsGC c.1881_1882delinsGC c.1982_1983delinsGC c.1907_1908delinsGC c.*2225_*2226delinsGC (n.*2225_*2226delinsGC) c.1918_1919delinsGC (p.Ala640=) | |
| 19 | g.40396332C>A | CA405897169 | PRX | c.2020G>T (p.Ala674Ser) c.1603G>T (p.Ala535Ser) c.2305G>T (p.Ala769Ser) c.1895G>T c.1881G>T c.1982G>T c.1907G>T c.*2225G>T (n.*2225G>T) c.1918G>T (p.Ala640Ser) | |
| 19 | g.40396332C>G | CA405897170 | PRX | c.2020G>C (p.Ala674Pro) c.1603G>C (p.Ala535Pro) c.2305G>C (p.Ala769Pro) c.1895G>C c.1881G>C c.1982G>C c.1907G>C c.*2225G>C (n.*2225G>C) c.1918G>C (p.Ala640Pro) | |
| 19 | g.40396332C>T | CA405897171 | PRX | c.2020G>A (p.Ala674Thr) c.1603G>A (p.Ala535Thr) c.2305G>A (p.Ala769Thr) c.1895G>A c.1881G>A c.1982G>A c.1907G>A c.*2225G>A (n.*2225G>A) c.1918G>A (p.Ala640Thr) |