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 |
|---|---|---|---|---|---|
| 11 | g.68157980C>A | CA381587682 | KMT5B | c.2153G>T (p.Gly718Val) n.2718G>T c.*1990G>T (n.*1990G>T) c.*2033G>T (n.*2033G>T) c.1850G>T (p.Gly617Val) c.*1574G>T (n.*1574G>T) c.2366G>T (p.Gly789Val) c.1646G>T (p.Gly549Val) c.2297G>T (p.Gly766Val) c.1124G>T (p.Gly375Val) | |
| 11 | g.68157980C= | CA1980500353 | KMT5B | c.2153G= (p.Gly718=) n.2718G= c.*1990G= (n.*1990G=) c.*2033G= (n.*2033G=) c.1850G= (p.Gly617=) c.*1574G= (n.*1574G=) c.2366G= (p.Gly789=) c.1646G= (p.Gly549=) c.2297G= (p.Gly766=) c.1124G= (p.Gly375=) | |
| 11 | g.68157980C>G | CA381587685 | KMT5B | c.2153G>C (p.Gly718Ala) n.2718G>C c.*1990G>C (n.*1990G>C) c.*2033G>C (n.*2033G>C) c.1850G>C (p.Gly617Ala) c.*1574G>C (n.*1574G>C) c.2366G>C (p.Gly789Ala) c.1646G>C (p.Gly549Ala) c.2297G>C (p.Gly766Ala) c.1124G>C (p.Gly375Ala) | gnomAD v4 |
| 11 | g.68157980C>T | CA6148021 | KMT5B | c.2153G>A (p.Gly718Glu) n.2718G>A c.*1990G>A (n.*1990G>A) c.*2033G>A (n.*2033G>A) c.1850G>A (p.Gly617Glu) c.*1574G>A (n.*1574G>A) c.2366G>A (p.Gly789Glu) c.1646G>A (p.Gly549Glu) c.2297G>A (p.Gly766Glu) c.1124G>A (p.Gly375Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68157981C>A | CA381587695 | KMT5B | c.2152G>T (p.Gly718Trp) n.2717G>T c.*1989G>T (n.*1989G>T) c.*2032G>T (n.*2032G>T) c.1849G>T (p.Gly617Trp) c.*1573G>T (n.*1573G>T) c.2365G>T (p.Gly789Trp) c.1645G>T (p.Gly549Trp) c.2296G>T (p.Gly766Trp) c.1123G>T (p.Gly375Trp) | |
| 11 | g.68157981C= | CA1980500362 | KMT5B | c.2152G= (p.Gly718=) n.2717G= c.*1989G= (n.*1989G=) c.*2032G= (n.*2032G=) c.1849G= (p.Gly617=) c.*1573G= (n.*1573G=) c.2365G= (p.Gly789=) c.1645G= (p.Gly549=) c.2296G= (p.Gly766=) c.1123G= (p.Gly375=) | |
| 11 | g.68157981C>G | CA381587700 | KMT5B | c.2152G>C (p.Gly718Arg) n.2717G>C c.*1989G>C (n.*1989G>C) c.*2032G>C (n.*2032G>C) c.1849G>C (p.Gly617Arg) c.*1573G>C (n.*1573G>C) c.2365G>C (p.Gly789Arg) c.1645G>C (p.Gly549Arg) c.2296G>C (p.Gly766Arg) c.1123G>C (p.Gly375Arg) | |
| 11 | g.68157981C>T | CA381587703 | KMT5B | c.2152G>A (p.Gly718Arg) n.2717G>A c.*1989G>A (n.*1989G>A) c.*2032G>A (n.*2032G>A) c.1849G>A (p.Gly617Arg) c.*1573G>A (n.*1573G>A) c.2365G>A (p.Gly789Arg) c.1645G>A (p.Gly549Arg) c.2296G>A (p.Gly766Arg) c.1123G>A (p.Gly375Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68157981_68157984delinsCCCT | CA1980500358 | KMT5B | c.2149_2152delinsAGGG (p.Arg717=) n.2714_2717delinsAGGG c.*1986_*1989delinsAGGG (n.*1986_*1989delinsAGGG) c.*2029_*2032delinsAGGG (n.*2029_*2032delinsAGGG) c.1846_1849delinsAGGG (p.Arg616=) c.*1570_*1573delinsAGGG (n.*1570_*1573delinsAGGG) c.2362_2365delinsAGGG (p.Arg788=) c.1642_1645delinsAGGG (p.Arg548=) c.2293_2296delinsAGGG (p.Arg765=) c.1120_1123delinsAGGG (p.Arg374=) | |
| 11 | g.68157982C>A | CA381587712 | KMT5B | c.2151G>T (p.Arg717Ser) n.2716G>T c.*1988G>T (n.*1988G>T) c.*2031G>T (n.*2031G>T) c.1848G>T (p.Arg616Ser) c.*1572G>T (n.*1572G>T) c.2364G>T (p.Arg788Ser) c.1644G>T (p.Arg548Ser) c.2295G>T (p.Arg765Ser) c.1122G>T (p.Arg374Ser) | |
| 11 | g.68157982C>G | CA381587709 | KMT5B | c.2151G>C (p.Arg717Ser) n.2716G>C c.*1988G>C (n.*1988G>C) c.*2031G>C (n.*2031G>C) c.1848G>C (p.Arg616Ser) c.*1572G>C (n.*1572G>C) c.2364G>C (p.Arg788Ser) c.1644G>C (p.Arg548Ser) c.2295G>C (p.Arg765Ser) c.1122G>C (p.Arg374Ser) | |
| 11 | g.68157982C>T | CA475514742 | KMT5B | c.2151G>A (p.Arg717=) n.2716G>A c.*1988G>A (n.*1988G>A) c.*2031G>A (n.*2031G>A) c.1848G>A (p.Arg616=) c.*1572G>A (n.*1572G>A) c.2364G>A (p.Arg788=) c.1644G>A (p.Arg548=) c.2295G>A (p.Arg765=) c.1122G>A (p.Arg374=) | gnomAD v4 |
| 11 | g.68157982_68157984del | CA679570361 | KMT5B | c.2149_2151del (p.Arg717del) n.2714_2716del c.*1986_*1988del (n.*1986_*1988del) c.*2029_*2031del (n.*2029_*2031del) c.1846_1848del (p.Arg616del) c.*1570_*1572del (n.*1570_*1572del) c.2362_2364del (p.Arg788del) c.1642_1644del (p.Arg548del) c.2293_2295del (p.Arg765del) c.1120_1122del (p.Arg374del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68157983C>A | CA381587716 | KMT5B | c.2150G>T (p.Arg717Met) n.2715G>T c.*1987G>T (n.*1987G>T) c.*2030G>T (n.*2030G>T) c.1847G>T (p.Arg616Met) c.*1571G>T (n.*1571G>T) c.2363G>T (p.Arg788Met) c.1643G>T (p.Arg548Met) c.2294G>T (p.Arg765Met) c.1121G>T (p.Arg374Met) | |
| 11 | g.68157983C>G | CA381587719 | KMT5B | c.2150G>C (p.Arg717Thr) n.2715G>C c.*1987G>C (n.*1987G>C) c.*2030G>C (n.*2030G>C) c.1847G>C (p.Arg616Thr) c.*1571G>C (n.*1571G>C) c.2363G>C (p.Arg788Thr) c.1643G>C (p.Arg548Thr) c.2294G>C (p.Arg765Thr) c.1121G>C (p.Arg374Thr) | |
| 11 | g.68157983C>T | CA381587727 | KMT5B | c.2150G>A (p.Arg717Lys) n.2715G>A c.*1987G>A (n.*1987G>A) c.*2030G>A (n.*2030G>A) c.1847G>A (p.Arg616Lys) c.*1571G>A (n.*1571G>A) c.2363G>A (p.Arg788Lys) c.1643G>A (p.Arg548Lys) c.2294G>A (p.Arg765Lys) c.1121G>A (p.Arg374Lys) | |
| 11 | g.68157984T>A | CA381587730 | KMT5B | c.2149A>T (p.Arg717Trp) n.2714A>T c.*1986A>T (n.*1986A>T) c.*2029A>T (n.*2029A>T) c.1846A>T (p.Arg616Trp) c.*1570A>T (n.*1570A>T) c.2362A>T (p.Arg788Trp) c.1642A>T (p.Arg548Trp) c.2293A>T (p.Arg765Trp) c.1120A>T (p.Arg374Trp) | |
| 11 | g.68157984T>C | CA381587732 | KMT5B | c.2149A>G (p.Arg717Gly) n.2714A>G c.*1986A>G (n.*1986A>G) c.*2029A>G (n.*2029A>G) c.1846A>G (p.Arg616Gly) c.*1570A>G (n.*1570A>G) c.2362A>G (p.Arg788Gly) c.1642A>G (p.Arg548Gly) c.2293A>G (p.Arg765Gly) c.1120A>G (p.Arg374Gly) | gnomAD v4 |
| 11 | g.68157984T>G | CA475514743 | KMT5B | c.2149A>C (p.Arg717=) n.2714A>C c.*1986A>C (n.*1986A>C) c.*2029A>C (n.*2029A>C) c.1846A>C (p.Arg616=) c.*1570A>C (n.*1570A>C) c.2362A>C (p.Arg788=) c.1642A>C (p.Arg548=) c.2293A>C (p.Arg765=) c.1120A>C (p.Arg374=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68157984T= | CA1980500371 | KMT5B | c.2149A= (p.Arg717=) n.2714A= c.*1986A= (n.*1986A=) c.*2029A= (n.*2029A=) c.1846A= (p.Arg616=) c.*1570A= (n.*1570A=) c.2362A= (p.Arg788=) c.1642A= (p.Arg548=) c.2293A= (p.Arg765=) c.1120A= (p.Arg374=) | |
| 11 | g.68157985A>C | CA381587734 | KMT5B | c.2148T>G (p.Asn716Lys) n.2713T>G c.*1985T>G (n.*1985T>G) c.*2028T>G (n.*2028T>G) c.1845T>G (p.Asn615Lys) c.*1569T>G (n.*1569T>G) c.2361T>G (p.Asn787Lys) c.1641T>G (p.Asn547Lys) c.2292T>G (p.Asn764Lys) c.1119T>G (p.Asn373Lys) | |
| 11 | g.68157985A>G | CA475514744 | KMT5B | c.2148T>C (p.Asn716=) n.2713T>C c.*1985T>C (n.*1985T>C) c.*2028T>C (n.*2028T>C) c.1845T>C (p.Asn615=) c.*1569T>C (n.*1569T>C) c.2361T>C (p.Asn787=) c.1641T>C (p.Asn547=) c.2292T>C (p.Asn764=) c.1119T>C (p.Asn373=) | |
| 11 | g.68157985A>T | CA381587747 | KMT5B | c.2148T>A (p.Asn716Lys) n.2713T>A c.*1985T>A (n.*1985T>A) c.*2028T>A (n.*2028T>A) c.1845T>A (p.Asn615Lys) c.*1569T>A (n.*1569T>A) c.2361T>A (p.Asn787Lys) c.1641T>A (p.Asn547Lys) c.2292T>A (p.Asn764Lys) c.1119T>A (p.Asn373Lys) | |
| 11 | g.68157986T>A | CA381587751 | KMT5B | c.2147A>T (p.Asn716Ile) n.2712A>T c.*1984A>T (n.*1984A>T) c.*2027A>T (n.*2027A>T) c.1844A>T (p.Asn615Ile) c.*1568A>T (n.*1568A>T) c.2360A>T (p.Asn787Ile) c.1640A>T (p.Asn547Ile) c.2291A>T (p.Asn764Ile) c.1118A>T (p.Asn373Ile) | |
| 11 | g.68157986T>C | CA381587754 | KMT5B | c.2147A>G (p.Asn716Ser) n.2712A>G c.*1984A>G (n.*1984A>G) c.*2027A>G (n.*2027A>G) c.1844A>G (p.Asn615Ser) c.*1568A>G (n.*1568A>G) c.2360A>G (p.Asn787Ser) c.1640A>G (p.Asn547Ser) c.2291A>G (p.Asn764Ser) c.1118A>G (p.Asn373Ser) | |
| 11 | g.68157986T>G | CA381587766 | KMT5B | c.2147A>C (p.Asn716Thr) n.2712A>C c.*1984A>C (n.*1984A>C) c.*2027A>C (n.*2027A>C) c.1844A>C (p.Asn615Thr) c.*1568A>C (n.*1568A>C) c.2360A>C (p.Asn787Thr) c.1640A>C (p.Asn547Thr) c.2291A>C (p.Asn764Thr) c.1118A>C (p.Asn373Thr) | |
| 11 | g.68157987T>A | CA381587767 | KMT5B | c.2146A>T (p.Asn716Tyr) n.2711A>T c.*1983A>T (n.*1983A>T) c.*2026A>T (n.*2026A>T) c.1843A>T (p.Asn615Tyr) c.*1567A>T (n.*1567A>T) c.2359A>T (p.Asn787Tyr) c.1639A>T (p.Asn547Tyr) c.2290A>T (p.Asn764Tyr) c.1117A>T (p.Asn373Tyr) | |
| 11 | g.68157987T>C | CA381587768 | KMT5B | c.2146A>G (p.Asn716Asp) n.2711A>G c.*1983A>G (n.*1983A>G) c.*2026A>G (n.*2026A>G) c.1843A>G (p.Asn615Asp) c.*1567A>G (n.*1567A>G) c.2359A>G (p.Asn787Asp) c.1639A>G (p.Asn547Asp) c.2290A>G (p.Asn764Asp) c.1117A>G (p.Asn373Asp) | dbSNP gnomAD v4 |
| 11 | g.68157987T>G | CA381587769 | KMT5B | c.2146A>C (p.Asn716His) n.2711A>C c.*1983A>C (n.*1983A>C) c.*2026A>C (n.*2026A>C) c.1843A>C (p.Asn615His) c.*1567A>C (n.*1567A>C) c.2359A>C (p.Asn787His) c.1639A>C (p.Asn547His) c.2290A>C (p.Asn764His) c.1117A>C (p.Asn373His) | |
| 11 | g.68157987T= | CA1980500373 | KMT5B | c.2146A= (p.Asn716=) n.2711A= c.*1983A= (n.*1983A=) c.*2026A= (n.*2026A=) c.1843A= (p.Asn615=) c.*1567A= (n.*1567A=) c.2359A= (p.Asn787=) c.1639A= (p.Asn547=) c.2290A= (p.Asn764=) c.1117A= (p.Asn373=) | |
| 11 | g.68157988T>A | CA381587778 | KMT5B | c.2145A>T (p.Glu715Asp) n.2710A>T c.*1982A>T (n.*1982A>T) c.*2025A>T (n.*2025A>T) c.1842A>T (p.Glu614Asp) c.*1566A>T (n.*1566A>T) c.2358A>T (p.Glu786Asp) c.1638A>T (p.Glu546Asp) c.2289A>T (p.Glu763Asp) c.1116A>T (p.Glu372Asp) | |
| 11 | g.68157988T>C | CA475514745 | KMT5B | c.2145A>G (p.Glu715=) n.2710A>G c.*1982A>G (n.*1982A>G) c.*2025A>G (n.*2025A>G) c.1842A>G (p.Glu614=) c.*1566A>G (n.*1566A>G) c.2358A>G (p.Glu786=) c.1638A>G (p.Glu546=) c.2289A>G (p.Glu763=) c.1116A>G (p.Glu372=) | |
| 11 | g.68157988T>G | CA381587772 | KMT5B | c.2145A>C (p.Glu715Asp) n.2710A>C c.*1982A>C (n.*1982A>C) c.*2025A>C (n.*2025A>C) c.1842A>C (p.Glu614Asp) c.*1566A>C (n.*1566A>C) c.2358A>C (p.Glu786Asp) c.1638A>C (p.Glu546Asp) c.2289A>C (p.Glu763Asp) c.1116A>C (p.Glu372Asp) | |
| 11 | g.68157989T>A | CA381587781 | KMT5B | c.2144A>T (p.Glu715Val) n.2709A>T c.*1981A>T (n.*1981A>T) c.*2024A>T (n.*2024A>T) c.1841A>T (p.Glu614Val) c.*1565A>T (n.*1565A>T) c.2357A>T (p.Glu786Val) c.1637A>T (p.Glu546Val) c.2288A>T (p.Glu763Val) c.1115A>T (p.Glu372Val) | |
| 11 | g.68157989T>C | CA381587783 | KMT5B | c.2144A>G (p.Glu715Gly) n.2709A>G c.*1981A>G (n.*1981A>G) c.*2024A>G (n.*2024A>G) c.1841A>G (p.Glu614Gly) c.*1565A>G (n.*1565A>G) c.2357A>G (p.Glu786Gly) c.1637A>G (p.Glu546Gly) c.2288A>G (p.Glu763Gly) c.1115A>G (p.Glu372Gly) | |
| 11 | g.68157989T>G | CA381587799 | KMT5B | c.2144A>C (p.Glu715Ala) n.2709A>C c.*1981A>C (n.*1981A>C) c.*2024A>C (n.*2024A>C) c.1841A>C (p.Glu614Ala) c.*1565A>C (n.*1565A>C) c.2357A>C (p.Glu786Ala) c.1637A>C (p.Glu546Ala) c.2288A>C (p.Glu763Ala) c.1115A>C (p.Glu372Ala) | |
| 11 | g.68157991_68157993del | CA2574900137 | KMT5B | c.2142_2144del (p.Glu715del) n.2707_2709del c.*1979_*1981del (n.*1979_*1981del) c.*2022_*2024del (n.*2022_*2024del) c.1839_1841del (p.Glu614del) c.*1563_*1565del (n.*1563_*1565del) c.2355_2357del (p.Glu786del) c.1635_1637del (p.Glu546del) c.2286_2288del (p.Glu763del) c.1113_1115del (p.Glu372del) | |
| 11 | g.68157990C>A | CA381587802 | KMT5B | c.2143G>T (p.Glu715Ter) n.2708G>T c.*1980G>T (n.*1980G>T) c.*2023G>T (n.*2023G>T) c.1840G>T (p.Glu614Ter) c.*1564G>T (n.*1564G>T) c.2356G>T (p.Glu786Ter) c.1636G>T (p.Glu546Ter) c.2287G>T (p.Glu763Ter) c.1114G>T (p.Glu372Ter) | |
| 11 | g.68157990C>G | CA381587805 | KMT5B | c.2143G>C (p.Glu715Gln) n.2708G>C c.*1980G>C (n.*1980G>C) c.*2023G>C (n.*2023G>C) c.1840G>C (p.Glu614Gln) c.*1564G>C (n.*1564G>C) c.2356G>C (p.Glu786Gln) c.1636G>C (p.Glu546Gln) c.2287G>C (p.Glu763Gln) c.1114G>C (p.Glu372Gln) | dbSNP |
| 11 | g.68157990C>T | CA381587809 | KMT5B | c.2143G>A (p.Glu715Lys) n.2708G>A c.*1980G>A (n.*1980G>A) c.*2023G>A (n.*2023G>A) c.1840G>A (p.Glu614Lys) c.*1564G>A (n.*1564G>A) c.2356G>A (p.Glu786Lys) c.1636G>A (p.Glu546Lys) c.2287G>A (p.Glu763Lys) c.1114G>A (p.Glu372Lys) | |
| 11 | g.68157991C>A | CA381587810 | KMT5B | c.2142G>T (p.Glu714Asp) n.2707G>T c.*1979G>T (n.*1979G>T) c.*2022G>T (n.*2022G>T) c.1839G>T (p.Glu613Asp) c.*1563G>T (n.*1563G>T) c.2355G>T (p.Glu785Asp) c.1635G>T (p.Glu545Asp) c.2286G>T (p.Glu762Asp) c.1113G>T (p.Glu371Asp) | |
| 11 | g.68157991C>G | CA381587813 | KMT5B | c.2142G>C (p.Glu714Asp) n.2707G>C c.*1979G>C (n.*1979G>C) c.*2022G>C (n.*2022G>C) c.1839G>C (p.Glu613Asp) c.*1563G>C (n.*1563G>C) c.2355G>C (p.Glu785Asp) c.1635G>C (p.Glu545Asp) c.2286G>C (p.Glu762Asp) c.1113G>C (p.Glu371Asp) | |
| 11 | g.68157991C>T | CA475514746 | KMT5B | c.2142G>A (p.Glu714=) n.2707G>A c.*1979G>A (n.*1979G>A) c.*2022G>A (n.*2022G>A) c.1839G>A (p.Glu613=) c.*1563G>A (n.*1563G>A) c.2355G>A (p.Glu785=) c.1635G>A (p.Glu545=) c.2286G>A (p.Glu762=) c.1113G>A (p.Glu371=) | gnomAD v4 |
| 11 | g.68157992T>A | CA381587814 | KMT5B | c.2141A>T (p.Glu714Val) n.2706A>T c.*1978A>T (n.*1978A>T) c.*2021A>T (n.*2021A>T) c.1838A>T (p.Glu613Val) c.*1562A>T (n.*1562A>T) c.2354A>T (p.Glu785Val) c.1634A>T (p.Glu545Val) c.2285A>T (p.Glu762Val) c.1112A>T (p.Glu371Val) | |
| 11 | g.68157992T>C | CA381587815 | KMT5B | c.2141A>G (p.Glu714Gly) n.2706A>G c.*1978A>G (n.*1978A>G) c.*2021A>G (n.*2021A>G) c.1838A>G (p.Glu613Gly) c.*1562A>G (n.*1562A>G) c.2354A>G (p.Glu785Gly) c.1634A>G (p.Glu545Gly) c.2285A>G (p.Glu762Gly) c.1112A>G (p.Glu371Gly) | |
| 11 | g.68157992T>G | CA381587816 | KMT5B | c.2141A>C (p.Glu714Ala) n.2706A>C c.*1978A>C (n.*1978A>C) c.*2021A>C (n.*2021A>C) c.1838A>C (p.Glu613Ala) c.*1562A>C (n.*1562A>C) c.2354A>C (p.Glu785Ala) c.1634A>C (p.Glu545Ala) c.2285A>C (p.Glu762Ala) c.1112A>C (p.Glu371Ala) | |
| 11 | g.68157993C>A | CA381587819 | KMT5B | c.2140G>T (p.Glu714Ter) n.2705G>T c.*1977G>T (n.*1977G>T) c.*2020G>T (n.*2020G>T) c.1837G>T (p.Glu613Ter) c.*1561G>T (n.*1561G>T) c.2353G>T (p.Glu785Ter) c.1633G>T (p.Glu545Ter) c.2284G>T (p.Glu762Ter) c.1111G>T (p.Glu371Ter) | |
| 11 | g.68157993C>G | CA381587822 | KMT5B | c.2140G>C (p.Glu714Gln) n.2705G>C c.*1977G>C (n.*1977G>C) c.*2020G>C (n.*2020G>C) c.1837G>C (p.Glu613Gln) c.*1561G>C (n.*1561G>C) c.2353G>C (p.Glu785Gln) c.1633G>C (p.Glu545Gln) c.2284G>C (p.Glu762Gln) c.1111G>C (p.Glu371Gln) | |
| 11 | g.68157993C>T | CA381587826 | KMT5B | c.2140G>A (p.Glu714Lys) n.2705G>A c.*1977G>A (n.*1977G>A) c.*2020G>A (n.*2020G>A) c.1837G>A (p.Glu613Lys) c.*1561G>A (n.*1561G>A) c.2353G>A (p.Glu785Lys) c.1633G>A (p.Glu545Lys) c.2284G>A (p.Glu762Lys) c.1111G>A (p.Glu371Lys) | |
| 11 | g.68157994A>C | CA381587831 | KMT5B | c.2139T>G (p.Asp713Glu) n.2704T>G c.*1976T>G (n.*1976T>G) c.*2019T>G (n.*2019T>G) c.1836T>G (p.Asp612Glu) c.*1560T>G (n.*1560T>G) c.2352T>G (p.Asp784Glu) c.1632T>G (p.Asp544Glu) c.2283T>G (p.Asp761Glu) c.1110T>G (p.Asp370Glu) |