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 |
|---|---|---|---|---|---|
| 18 | g.23544960_23545032del | CA2695227328 | NPC1 | c.1875_1947del (p.Ile626TrpfsTer7) n.1789_1861del c.953_1025del c.1926_1998del (p.Ile643TrpfsTer7) c.1461_1533del (p.Ile488TrpfsTer7) | |
| 18 | g.23544985_23544993delinsTGCCCCAAG | CA2290168369 | NPC1 | c.1914_1922delinsCTTGGGGCA (p.Ala638=) n.1828_1836delinsCTTGGGGCA c.992_1000delinsCTTGGGGCA c.1965_1973delinsCTTGGGGCA (p.Ala655=) c.1500_1508delinsCTTGGGGCA (p.Ala500=) | |
| 18 | g.23544988_23544995del | CA777725396 | NPC1 | c.1914_1921del (p.Leu639HisfsTer?) n.1828_1835del c.992_999del c.1965_1972del (p.Leu656HisfsTer?) c.1500_1507del (p.Leu501HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544990del | CA10604013 | NPC1 | c.1920del (p.His641ThrfsTer2) n.1834del c.998del c.1971del (p.His658ThrfsTer2) c.1506del (p.His503ThrfsTer2) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544988C>A | CA401772195 | NPC1 | c.1919G>T (p.Gly640Val) n.1833G>T c.997G>T c.1970G>T (p.Gly657Val) c.1505G>T (p.Gly502Val) | |
| 18 | g.23544988C>G | CA401772193 | NPC1 | c.1919G>C (p.Gly640Ala) n.1833G>C c.997G>C c.1970G>C (p.Gly657Ala) c.1505G>C (p.Gly502Ala) | |
| 18 | g.23544988C>T | CA401772194 | NPC1 | c.1919G>A (p.Gly640Glu) n.1833G>A c.997G>A c.1970G>A (p.Gly657Glu) c.1505G>A (p.Gly502Glu) | gnomAD v4 |
| 18 | g.23544989C>A | CA401772196 | NPC1 | c.1918G>T (p.Gly640Trp) n.1832G>T c.996G>T c.1969G>T (p.Gly657Trp) c.1504G>T (p.Gly502Trp) | |
| 18 | g.23544989C= | CA2290168371 | NPC1 | c.1918G= (p.Gly640=) n.1832G= c.996G= c.1969G= (p.Gly657=) c.1504G= (p.Gly502=) | |
| 18 | g.23544989C>G | CA401772197 | NPC1 | c.1918G>C (p.Gly640Arg) n.1832G>C c.996G>C c.1969G>C (p.Gly657Arg) c.1504G>C (p.Gly502Arg) | |
| 18 | g.23544989C>T | CA401772198 | NPC1 | c.1918G>A (p.Gly640Arg) n.1832G>A c.996G>A c.1969G>A (p.Gly657Arg) c.1504G>A (p.Gly502Arg) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544990C>A | CA401772199 | NPC1 | c.1917G>T (p.Leu639Phe) n.1831G>T c.995G>T c.1968G>T (p.Leu656Phe) c.1503G>T (p.Leu501Phe) | |
| 18 | g.23544990C>G | CA401772200 | NPC1 | c.1917G>C (p.Leu639Phe) n.1831G>C c.995G>C c.1968G>C (p.Leu656Phe) c.1503G>C (p.Leu501Phe) | |
| 18 | g.23544990C>T | CA503521895 | NPC1 | c.1917G>A (p.Leu639=) n.1831G>A c.995G>A c.1968G>A (p.Leu656=) c.1503G>A (p.Leu501=) | |
| 18 | g.23544991A>C | CA401772203 | NPC1 | c.1916T>G (p.Leu639Trp) n.1830T>G c.994T>G c.1967T>G (p.Leu656Trp) c.1502T>G (p.Leu501Trp) | gnomAD v3 gnomAD v4 |
| 18 | g.23544991A>G | CA401772201 | NPC1 | c.1916T>C (p.Leu639Ser) n.1830T>C c.994T>C c.1967T>C (p.Leu656Ser) c.1502T>C (p.Leu501Ser) | |
| 18 | g.23544991A>T | CA401772202 | NPC1 | c.1916T>A (p.Leu639Ter) n.1830T>A c.994T>A c.1967T>A (p.Leu656Ter) c.1502T>A (p.Leu501Ter) | |
| 18 | g.23544992A>C | CA401772204 | NPC1 | c.1915T>G (p.Leu639Val) n.1829T>G c.993T>G c.1966T>G (p.Leu656Val) c.1501T>G (p.Leu501Val) | gnomAD v4 |
| 18 | g.23544992A>G | CA503521897 | NPC1 | c.1915T>C (p.Leu639=) n.1829T>C c.993T>C c.1966T>C (p.Leu656=) c.1501T>C (p.Leu501=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544992A>T | CA401772205 | NPC1 | c.1915T>A (p.Leu639Met) n.1829T>A c.993T>A c.1966T>A (p.Leu656Met) c.1501T>A (p.Leu501Met) | |
| 18 | g.23544993G>A | CA503521900 | NPC1 | c.1914C>T (p.Ala638=) n.1828C>T c.992C>T c.1965C>T (p.Ala655=) c.1500C>T (p.Ala500=) | |
| 18 | g.23544993G>C | CA503521898 | NPC1 | c.1914C>G (p.Ala638=) n.1828C>G c.992C>G c.1965C>G (p.Ala655=) c.1500C>G (p.Ala500=) | |
| 18 | g.23544993G>T | CA503521899 | NPC1 | c.1914C>A (p.Ala638=) n.1828C>A c.992C>A c.1965C>A (p.Ala655=) c.1500C>A (p.Ala500=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544994G>A | CA401772206 | NPC1 | c.1913C>T (p.Ala638Val) n.1827C>T c.991C>T c.1964C>T (p.Ala655Val) c.1499C>T (p.Ala500Val) | |
| 18 | g.23544994G>C | CA401772207 | NPC1 | c.1913C>G (p.Ala638Gly) n.1827C>G c.991C>G c.1964C>G (p.Ala655Gly) c.1499C>G (p.Ala500Gly) | dbSNP gnomAD v4 |
| 18 | g.23544994G= | CA2290168372 | NPC1 | c.1913C= (p.Ala638=) n.1827C= c.991C= c.1964C= (p.Ala655=) c.1499C= (p.Ala500=) | |
| 18 | g.23544994G>T | CA401772208 | NPC1 | c.1913C>A (p.Ala638Asp) n.1827C>A c.991C>A c.1964C>A (p.Ala655Asp) c.1499C>A (p.Ala500Asp) | |
| 18 | g.23544995C>A | CA401772209 | NPC1 | c.1912G>T (p.Ala638Ser) n.1826G>T c.990G>T c.1963G>T (p.Ala655Ser) c.1498G>T (p.Ala500Ser) | |
| 18 | g.23544995C>G | CA401772210 | NPC1 | c.1912G>C (p.Ala638Pro) n.1826G>C c.990G>C c.1963G>C (p.Ala655Pro) c.1498G>C (p.Ala500Pro) | |
| 18 | g.23544995C>T | CA401772211 | NPC1 | c.1912G>A (p.Ala638Thr) n.1826G>A c.990G>A c.1963G>A (p.Ala655Thr) c.1498G>A (p.Ala500Thr) | |
| 18 | g.23544996T>A | CA503521904 | NPC1 | c.1911A>T (p.Leu637=) n.1825A>T c.989A>T c.1962A>T (p.Leu654=) c.1497A>T (p.Leu499=) | |
| 18 | g.23544996T>C | CA503521905 | NPC1 | c.1911A>G (p.Leu637=) n.1825A>G c.989A>G c.1962A>G (p.Leu654=) c.1497A>G (p.Leu499=) | |
| 18 | g.23544996T>G | CA503521906 | NPC1 | c.1911A>C (p.Leu637=) n.1825A>C c.989A>C c.1962A>C (p.Leu654=) c.1497A>C (p.Leu499=) | ClinVar gnomAD v4 |
| 18 | g.23544997A>C | CA401772212 | NPC1 | c.1910T>G (p.Leu637Arg) n.1824T>G c.988T>G c.1961T>G (p.Leu654Arg) c.1496T>G (p.Leu499Arg) | |
| 18 | g.23544997A>G | CA401772213 | NPC1 | c.1910T>C (p.Leu637Pro) n.1824T>C c.988T>C c.1961T>C (p.Leu654Pro) c.1496T>C (p.Leu499Pro) | |
| 18 | g.23544997A>T | CA401772214 | NPC1 | c.1910T>A (p.Leu637Gln) n.1824T>A c.988T>A c.1961T>A (p.Leu654Gln) c.1496T>A (p.Leu499Gln) | |
| 18 | g.23544998G>A | CA503521907 | NPC1 | c.1909C>T (p.Leu637=) n.1823C>T c.987C>T c.1960C>T (p.Leu654=) c.1495C>T (p.Leu499=) | |
| 18 | g.23544998G>C | CA8913346 | NPC1 | c.1909C>G (p.Leu637Val) n.1823C>G c.987C>G c.1960C>G (p.Leu654Val) c.1495C>G (p.Leu499Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23544998G= | CA2290168373 | NPC1 | c.1909C= (p.Leu637=) n.1823C= c.987C= c.1960C= (p.Leu654=) c.1495C= (p.Leu499=) | |
| 18 | g.23544998G>T | CA401772215 | NPC1 | c.1909C>A (p.Leu637Ile) n.1823C>A c.987C>A c.1960C>A (p.Leu654Ile) c.1495C>A (p.Leu499Ile) | gnomAD v4 |
| 18 | g.23544999G>A | CA503521910 | NPC1 | c.1908C>T (p.Ser636=) n.1822C>T c.986C>T c.1959C>T (p.Ser653=) c.1494C>T (p.Ser498=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544999G>C | CA503521912 | NPC1 | c.1908C>G (p.Ser636=) n.1822C>G c.986C>G c.1959C>G (p.Ser653=) c.1494C>G (p.Ser498=) | |
| 18 | g.23544999G= | CA2290168374 | NPC1 | c.1908C= (p.Ser636=) n.1822C= c.986C= c.1959C= (p.Ser653=) c.1494C= (p.Ser498=) | |
| 18 | g.23544999G>T | CA503521911 | NPC1 | c.1908C>A (p.Ser636=) n.1822C>A c.986C>A c.1959C>A (p.Ser653=) c.1494C>A (p.Ser498=) | |
| 18 | g.23545000G>A | CA401772218 | NPC1 | c.1907C>T (p.Ser636Phe) n.1821C>T c.985C>T c.1958C>T (p.Ser653Phe) c.1493C>T (p.Ser498Phe) | COSMIC |
| 18 | g.23545000G>C | CA401772216 | NPC1 | c.1907C>G (p.Ser636Cys) n.1821C>G c.985C>G c.1958C>G (p.Ser653Cys) c.1493C>G (p.Ser498Cys) | |
| 18 | g.23545000G= | CA2290168375 | NPC1 | c.1907C= (p.Ser636=) n.1821C= c.985C= c.1958C= (p.Ser653=) c.1493C= (p.Ser498=) | |
| 18 | g.23545000G>T | CA401772217 | NPC1 | c.1907C>A (p.Ser636Tyr) n.1821C>A c.985C>A c.1958C>A (p.Ser653Tyr) c.1493C>A (p.Ser498Tyr) | |
| 18 | g.23545001A= | CA2290168376 | NPC1 | c.1906T= (p.Ser636=) n.1820T= c.984T= c.1957T= (p.Ser653=) c.1492T= (p.Ser498=) | |
| 18 | g.23545001A>C | CA8913347 | NPC1 | c.1906T>G (p.Ser636Ala) n.1820T>G c.984T>G c.1957T>G (p.Ser653Ala) c.1492T>G (p.Ser498Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |