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.40396316C>A | CA405897138 | PRX | c.2036G>T (p.Arg679Leu) c.1619G>T (p.Arg540Leu) c.2321G>T (p.Arg774Leu) c.1911G>T c.1897G>T c.1998G>T c.1923G>T c.*2241G>T (n.*2241G>T) c.1934G>T (p.Arg645Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396316C= | CA2335961576 | PRX | c.2036G= (p.Arg679=) c.1619G= (p.Arg540=) c.2321G= (p.Arg774=) c.1911G= c.1897G= c.1998G= c.1923G= c.*2241G= (n.*2241G=) c.1934G= (p.Arg645=) | |
| 19 | g.40396316C>G | CA405897137 | PRX | c.2036G>C (p.Arg679Pro) c.1619G>C (p.Arg540Pro) c.2321G>C (p.Arg774Pro) c.1911G>C c.1897G>C c.1998G>C c.1923G>C c.*2241G>C (n.*2241G>C) c.1934G>C (p.Arg645Pro) | |
| 19 | g.40396316C>T | CA9444135 | PRX | c.2036G>A (p.Arg679Gln) c.1619G>A (p.Arg540Gln) c.2321G>A (p.Arg774Gln) c.1911G>A c.1897G>A c.1998G>A c.1923G>A c.*2241G>A (n.*2241G>A) c.1934G>A (p.Arg645Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396317G>A | CA405897139 | PRX | c.2035C>T (p.Arg679Ter) c.1618C>T (p.Arg540Ter) c.2320C>T (p.Arg774Ter) c.1910C>T c.1896C>T c.1997C>T c.1922C>T c.*2240C>T (n.*2240C>T) c.1933C>T (p.Arg645Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396317G>C | CA405897140 | PRX | c.2035C>G (p.Arg679Gly) c.1618C>G (p.Arg540Gly) c.2320C>G (p.Arg774Gly) c.1910C>G c.1896C>G c.1997C>G c.1922C>G c.*2240C>G (n.*2240C>G) c.1933C>G (p.Arg645Gly) | |
| 19 | g.40396317G= | CA2335961577 | PRX | c.2035C= (p.Arg679=) c.1618C= (p.Arg540=) c.2320C= (p.Arg774=) c.1910C= c.1896C= c.1997C= c.1922C= c.*2240C= (n.*2240C=) c.1933C= (p.Arg645=) | |
| 19 | g.40396317G>T | CA507679567 | PRX | c.2035C>A (p.Arg679=) c.1618C>A (p.Arg540=) c.2320C>A (p.Arg774=) c.1910C>A c.1896C>A c.1997C>A c.1922C>A c.*2240C>A (n.*2240C>A) c.1933C>A (p.Arg645=) | |
| 19 | g.40396318A>C | CA507679568 | PRX | c.2034T>G (p.Val678=) c.1617T>G (p.Val539=) c.2319T>G (p.Val773=) c.1909T>G c.1895T>G c.1996T>G c.1921T>G c.*2239T>G (n.*2239T>G) c.1932T>G (p.Val644=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396318A>G | CA507679569 | PRX | c.2034T>C (p.Val678=) c.1617T>C (p.Val539=) c.2319T>C (p.Val773=) c.1909T>C c.1895T>C c.1996T>C c.1921T>C c.*2239T>C (n.*2239T>C) c.1932T>C (p.Val644=) | |
| 19 | g.40396318A>T | CA507679570 | PRX | c.2034T>A (p.Val678=) c.1617T>A (p.Val539=) c.2319T>A (p.Val773=) c.1909T>A c.1895T>A c.1996T>A c.1921T>A c.*2239T>A (n.*2239T>A) c.1932T>A (p.Val644=) | |
| 19 | g.40396319A= | CA2335961578 | PRX | c.2033T= (p.Val678=) c.1616T= (p.Val539=) c.2318T= (p.Val773=) c.1908T= c.1894T= c.1995T= c.1920T= c.*2238T= (n.*2238T=) c.1931T= (p.Val644=) | |
| 19 | g.40396319A>C | CA405897141 | PRX | c.2033T>G (p.Val678Gly) c.1616T>G (p.Val539Gly) c.2318T>G (p.Val773Gly) c.1908T>G c.1894T>G c.1995T>G c.1920T>G c.*2238T>G (n.*2238T>G) c.1931T>G (p.Val644Gly) | gnomAD v4 |
| 19 | g.40396319A>G | CA405897142 | PRX | c.2033T>C (p.Val678Ala) c.1616T>C (p.Val539Ala) c.2318T>C (p.Val773Ala) c.1908T>C c.1894T>C c.1995T>C c.1920T>C c.*2238T>C (n.*2238T>C) c.1931T>C (p.Val644Ala) | ClinVar dbSNP |
| 19 | g.40396319A>T | CA405897143 | PRX | c.2033T>A (p.Val678Asp) c.1616T>A (p.Val539Asp) c.2318T>A (p.Val773Asp) c.1908T>A c.1894T>A c.1995T>A c.1920T>A c.*2238T>A (n.*2238T>A) c.1931T>A (p.Val644Asp) | |
| 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) |