WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113399913_113399917del | CA2616033668 | ANKK1 | c.1944_1948del (p.Gly649Ter) c.1977_1981del (p.Gly660Ter) c.1947_1951del (p.Gly650Ter) c.1755_1759del (p.Gly586Ter) c.1974_1978del (p.Gly659Ter) | gnomAD v4 |
| 11 | g.113399916G>A | CA477042946 | ANKK1 | c.1947G>A (p.Gly649=) c.1980G>A (p.Gly660=) c.1950G>A (p.Gly650=) c.1758G>A (p.Gly586=) c.1977G>A (p.Gly659=) | |
| 11 | g.113399916G>C | CA477042947 | ANKK1 | c.1947G>C (p.Gly649=) c.1980G>C (p.Gly660=) c.1950G>C (p.Gly650=) c.1758G>C (p.Gly586=) c.1977G>C (p.Gly659=) | |
| 11 | g.113399916G>T | CA477042948 | ANKK1 | c.1947G>T (p.Gly649=) c.1980G>T (p.Gly660=) c.1950G>T (p.Gly650=) c.1758G>T (p.Gly586=) c.1977G>T (p.Gly659=) | |
| 11 | g.113399917G>A | CA382646741 | ANKK1 | c.1948G>A (p.Ala650Thr) c.1981G>A (p.Ala661Thr) c.1951G>A (p.Ala651Thr) c.1759G>A (p.Ala587Thr) c.1978G>A (p.Ala660Thr) | dbSNP |
| 11 | g.113399917G>C | CA382646743 | ANKK1 | c.1948G>C (p.Ala650Pro) c.1981G>C (p.Ala661Pro) c.1951G>C (p.Ala651Pro) c.1759G>C (p.Ala587Pro) c.1978G>C (p.Ala660Pro) | |
| 11 | g.113399917G= | CA2001153226 | ANKK1 | c.1948G= (p.Ala650=) c.1981G= (p.Ala661=) c.1951G= (p.Ala651=) c.1759G= (p.Ala587=) c.1978G= (p.Ala660=) | |
| 11 | g.113399917G>T | CA382646745 | ANKK1 | c.1948G>T (p.Ala650Ser) c.1981G>T (p.Ala661Ser) c.1951G>T (p.Ala651Ser) c.1759G>T (p.Ala587Ser) c.1978G>T (p.Ala660Ser) | gnomAD v4 COSMIC |
| 11 | g.113399918C>A | CA382646747 | ANKK1 | c.1949C>A (p.Ala650Asp) c.1982C>A (p.Ala661Asp) c.1952C>A (p.Ala651Asp) c.1760C>A (p.Ala587Asp) c.1979C>A (p.Ala660Asp) | |
| 11 | g.113399918C>G | CA382646749 | ANKK1 | c.1949C>G (p.Ala650Gly) c.1982C>G (p.Ala661Gly) c.1952C>G (p.Ala651Gly) c.1760C>G (p.Ala587Gly) c.1979C>G (p.Ala660Gly) | |
| 11 | g.113399918C>T | CA382646751 | ANKK1 | c.1949C>T (p.Ala650Val) c.1982C>T (p.Ala661Val) c.1952C>T (p.Ala651Val) c.1760C>T (p.Ala587Val) c.1979C>T (p.Ala660Val) | |
| 11 | g.113399919T>A | CA477042949 | ANKK1 | c.1950T>A (p.Ala650=) c.1983T>A (p.Ala661=) c.1953T>A (p.Ala651=) c.1761T>A (p.Ala587=) c.1980T>A (p.Ala660=) | |
| 11 | g.113399919T>C | CA477042950 | ANKK1 | c.1950T>C (p.Ala650=) c.1983T>C (p.Ala661=) c.1953T>C (p.Ala651=) c.1761T>C (p.Ala587=) c.1980T>C (p.Ala660=) | |
| 11 | g.113399919T>G | CA477042951 | ANKK1 | c.1950T>G (p.Ala650=) c.1983T>G (p.Ala661=) c.1953T>G (p.Ala651=) c.1761T>G (p.Ala587=) c.1980T>G (p.Ala660=) | |
| 11 | g.113399920G>A | CA6281049 | ANKK1 | c.1951G>A (p.Asp651Asn) c.1984G>A (p.Asp662Asn) c.1954G>A (p.Asp652Asn) c.1762G>A (p.Asp588Asn) c.1981G>A (p.Asp661Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399920G>C | CA382646757 | ANKK1 | c.1951G>C (p.Asp651His) c.1984G>C (p.Asp662His) c.1954G>C (p.Asp652His) c.1762G>C (p.Asp588His) c.1981G>C (p.Asp661His) | |
| 11 | g.113399920G= | CA2001153230 | ANKK1 | c.1951G= (p.Asp651=) c.1984G= (p.Asp662=) c.1954G= (p.Asp652=) c.1762G= (p.Asp588=) c.1981G= (p.Asp661=) | |
| 11 | g.113399920G>T | CA382646755 | ANKK1 | c.1951G>T (p.Asp651Tyr) c.1984G>T (p.Asp662Tyr) c.1954G>T (p.Asp652Tyr) c.1762G>T (p.Asp588Tyr) c.1981G>T (p.Asp661Tyr) | |
| 11 | g.113399921A= | CA2001153234 | ANKK1 | c.1952A= (p.Asp651=) c.1985A= (p.Asp662=) c.1955A= (p.Asp652=) c.1763A= (p.Asp588=) c.1982A= (p.Asp661=) | |
| 11 | g.113399921A>C | CA6281050 | ANKK1 | c.1952A>C (p.Asp651Ala) c.1985A>C (p.Asp662Ala) c.1955A>C (p.Asp652Ala) c.1763A>C (p.Asp588Ala) c.1982A>C (p.Asp661Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399921A>G | CA382646760 | ANKK1 | c.1952A>G (p.Asp651Gly) c.1985A>G (p.Asp662Gly) c.1955A>G (p.Asp652Gly) c.1763A>G (p.Asp588Gly) c.1982A>G (p.Asp661Gly) | |
| 11 | g.113399921A>T | CA382646762 | ANKK1 | c.1952A>T (p.Asp651Val) c.1985A>T (p.Asp662Val) c.1955A>T (p.Asp652Val) c.1763A>T (p.Asp588Val) c.1982A>T (p.Asp661Val) | |
| 11 | g.113399921_113399923del | CA2616033678 | ANKK1 | c.1952_1954del (p.Asp651_Pro652delinsAla) c.1985_1987del (p.Asp662_Pro663delinsAla) c.1955_1957del (p.Asp652_Pro653delinsAla) c.1763_1765del (p.Asp588_Pro589delinsAla) c.1982_1984del (p.Asp661_Pro662delinsAla) | gnomAD v4 |
| 11 | g.113399922C>A | CA382646764 | ANKK1 | c.1953C>A (p.Asp651Glu) c.1986C>A (p.Asp662Glu) c.1956C>A (p.Asp652Glu) c.1764C>A (p.Asp588Glu) c.1983C>A (p.Asp661Glu) | |
| 11 | g.113399922C>G | CA382646765 | ANKK1 | c.1953C>G (p.Asp651Glu) c.1986C>G (p.Asp662Glu) c.1956C>G (p.Asp652Glu) c.1764C>G (p.Asp588Glu) c.1983C>G (p.Asp661Glu) | |
| 11 | g.113399922C>T | CA477042952 | ANKK1 | c.1953C>T (p.Asp651=) c.1986C>T (p.Asp662=) c.1956C>T (p.Asp652=) c.1764C>T (p.Asp588=) c.1983C>T (p.Asp661=) | |
| 11 | g.113399923C>A | CA382646767 | ANKK1 | c.1954C>A (p.Pro652Thr) c.1987C>A (p.Pro663Thr) c.1957C>A (p.Pro653Thr) c.1765C>A (p.Pro589Thr) c.1984C>A (p.Pro662Thr) | |
| 11 | g.113399923C= | CA2001153237 | ANKK1 | c.1954C= (p.Pro652=) c.1987C= (p.Pro663=) c.1957C= (p.Pro653=) c.1765C= (p.Pro589=) c.1984C= (p.Pro662=) | |
| 11 | g.113399923C>G | CA382646768 | ANKK1 | c.1954C>G (p.Pro652Ala) c.1987C>G (p.Pro663Ala) c.1957C>G (p.Pro653Ala) c.1765C>G (p.Pro589Ala) c.1984C>G (p.Pro662Ala) | |
| 11 | g.113399923C>T | CA6281051 | ANKK1 | c.1954C>T (p.Pro652Ser) c.1987C>T (p.Pro663Ser) c.1957C>T (p.Pro653Ser) c.1765C>T (p.Pro589Ser) c.1984C>T (p.Pro662Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399924C>A | CA382646770 | ANKK1 | c.1955C>A (p.Pro652His) c.1988C>A (p.Pro663His) c.1958C>A (p.Pro653His) c.1766C>A (p.Pro589His) c.1985C>A (p.Pro662His) | |
| 11 | g.113399924C= | CA2001153241 | ANKK1 | c.1955C= (p.Pro652=) c.1988C= (p.Pro663=) c.1958C= (p.Pro653=) c.1766C= (p.Pro589=) c.1985C= (p.Pro662=) | |
| 11 | g.113399924C>G | CA382646775 | ANKK1 | c.1955C>G (p.Pro652Arg) c.1988C>G (p.Pro663Arg) c.1958C>G (p.Pro653Arg) c.1766C>G (p.Pro589Arg) c.1985C>G (p.Pro662Arg) | |
| 11 | g.113399924C>T | CA382646777 | ANKK1 | c.1955C>T (p.Pro652Leu) c.1988C>T (p.Pro663Leu) c.1958C>T (p.Pro653Leu) c.1766C>T (p.Pro589Leu) c.1985C>T (p.Pro662Leu) | dbSNP gnomAD v4 |
| 11 | g.113399924_113399925insAG | CA2616033681 | ANKK1 | c.1955_1956insAG (p.Asn653AlafsTer22) c.1988_1989insAG (p.Asn664AlafsTer22) c.1958_1959insAG (p.Asn654AlafsTer22) c.1766_1767insAG (p.Asn590AlafsTer22) c.1985_1986insAG (p.Asn663AlafsTer22) | gnomAD v4 |
| 11 | g.113399925C>A | CA477042953 | ANKK1 | c.1956C>A (p.Pro652=) c.1989C>A (p.Pro663=) c.1959C>A (p.Pro653=) c.1767C>A (p.Pro589=) c.1986C>A (p.Pro662=) | |
| 11 | g.113399925C>G | CA477042954 | ANKK1 | c.1956C>G (p.Pro652=) c.1989C>G (p.Pro663=) c.1959C>G (p.Pro653=) c.1767C>G (p.Pro589=) c.1986C>G (p.Pro662=) | |
| 11 | g.113399925C>T | CA477042955 | ANKK1 | c.1956C>T (p.Pro652=) c.1989C>T (p.Pro663=) c.1959C>T (p.Pro653=) c.1767C>T (p.Pro589=) c.1986C>T (p.Pro662=) | |
| 11 | g.113399926A>C | CA382646779 | ANKK1 | c.1957A>C (p.Asn653His) c.1990A>C (p.Asn664His) c.1960A>C (p.Asn654His) c.1768A>C (p.Asn590His) c.1987A>C (p.Asn663His) | |
| 11 | g.113399926A>G | CA382646783 | ANKK1 | c.1957A>G (p.Asn653Asp) c.1990A>G (p.Asn664Asp) c.1960A>G (p.Asn654Asp) c.1768A>G (p.Asn590Asp) c.1987A>G (p.Asn663Asp) | gnomAD v4 |
| 11 | g.113399926A>T | CA382646781 | ANKK1 | c.1957A>T (p.Asn653Tyr) c.1990A>T (p.Asn664Tyr) c.1960A>T (p.Asn654Tyr) c.1768A>T (p.Asn590Tyr) c.1987A>T (p.Asn663Tyr) | |
| 11 | g.113399927A= | CA2001153245 | ANKK1 | c.1958A= (p.Asn653=) c.1991A= (p.Asn664=) c.1961A= (p.Asn654=) c.1769A= (p.Asn590=) c.1988A= (p.Asn663=) | |
| 11 | g.113399927A>C | CA382646786 | ANKK1 | c.1958A>C (p.Asn653Thr) c.1991A>C (p.Asn664Thr) c.1961A>C (p.Asn654Thr) c.1769A>C (p.Asn590Thr) c.1988A>C (p.Asn663Thr) | |
| 11 | g.113399927A>G | CA6281052 | ANKK1 | c.1958A>G (p.Asn653Ser) c.1991A>G (p.Asn664Ser) c.1961A>G (p.Asn654Ser) c.1769A>G (p.Asn590Ser) c.1988A>G (p.Asn663Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399927A>T | CA382646788 | ANKK1 | c.1958A>T (p.Asn653Ile) c.1991A>T (p.Asn664Ile) c.1961A>T (p.Asn654Ile) c.1769A>T (p.Asn590Ile) c.1988A>T (p.Asn663Ile) | |
| 11 | g.113399928T>A | CA382646792 | ANKK1 | c.1959T>A (p.Asn653Lys) c.1992T>A (p.Asn664Lys) c.1962T>A (p.Asn654Lys) c.1770T>A (p.Asn590Lys) c.1989T>A (p.Asn663Lys) | |
| 11 | g.113399928T>C | CA477042956 | ANKK1 | c.1959T>C (p.Asn653=) c.1992T>C (p.Asn664=) c.1962T>C (p.Asn654=) c.1770T>C (p.Asn590=) c.1989T>C (p.Asn663=) | |
| 11 | g.113399928T>G | CA382646793 | ANKK1 | c.1959T>G (p.Asn653Lys) c.1992T>G (p.Asn664Lys) c.1962T>G (p.Asn654Lys) c.1770T>G (p.Asn590Lys) c.1989T>G (p.Asn663Lys) | |
| 11 | g.113399929G>A | CA382646795 | ANKK1 | c.1960G>A (p.Ala654Thr) c.1993G>A (p.Ala665Thr) c.1963G>A (p.Ala655Thr) c.1771G>A (p.Ala591Thr) c.1990G>A (p.Ala664Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113399929G>C | CA382646797 | ANKK1 | c.1960G>C (p.Ala654Pro) c.1993G>C (p.Ala665Pro) c.1963G>C (p.Ala655Pro) c.1771G>C (p.Ala591Pro) c.1990G>C (p.Ala664Pro) |