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.113399908C>A | CA382646698 | ANKK1 | c.1939C>A (p.Gln647Lys) c.1972C>A (p.Gln658Lys) c.1942C>A (p.Gln648Lys) c.1750C>A (p.Gln584Lys) c.1969C>A (p.Gln657Lys) | |
| 11 | g.113399908C= | CA2001153215 | ANKK1 | c.1939C= (p.Gln647=) c.1972C= (p.Gln658=) c.1942C= (p.Gln648=) c.1750C= (p.Gln584=) c.1969C= (p.Gln657=) | |
| 11 | g.113399908C>G | CA382646700 | ANKK1 | c.1939C>G (p.Gln647Glu) c.1972C>G (p.Gln658Glu) c.1942C>G (p.Gln648Glu) c.1750C>G (p.Gln584Glu) c.1969C>G (p.Gln657Glu) | |
| 11 | g.113399908C>T | CA382646701 | ANKK1 | c.1939C>T (p.Gln647Ter) c.1972C>T (p.Gln658Ter) c.1942C>T (p.Gln648Ter) c.1750C>T (p.Gln584Ter) c.1969C>T (p.Gln657Ter) | dbSNP |
| 11 | g.113399909A>C | CA382646706 | ANKK1 | c.1940A>C (p.Gln647Pro) c.1973A>C (p.Gln658Pro) c.1943A>C (p.Gln648Pro) c.1751A>C (p.Gln584Pro) c.1970A>C (p.Gln657Pro) | |
| 11 | g.113399909A>G | CA382646705 | ANKK1 | c.1940A>G (p.Gln647Arg) c.1973A>G (p.Gln658Arg) c.1943A>G (p.Gln648Arg) c.1751A>G (p.Gln584Arg) c.1970A>G (p.Gln657Arg) | |
| 11 | g.113399909A>T | CA382646703 | ANKK1 | c.1940A>T (p.Gln647Leu) c.1973A>T (p.Gln658Leu) c.1943A>T (p.Gln648Leu) c.1751A>T (p.Gln584Leu) c.1970A>T (p.Gln657Leu) | |
| 11 | g.113399910G>A | CA6281047 | ANKK1 | c.1941G>A (p.Gln647=) c.1974G>A (p.Gln658=) c.1944G>A (p.Gln648=) c.1752G>A (p.Gln584=) c.1971G>A (p.Gln657=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113399910G>C | CA382646709 | ANKK1 | c.1941G>C (p.Gln647His) c.1974G>C (p.Gln658His) c.1944G>C (p.Gln648His) c.1752G>C (p.Gln584His) c.1971G>C (p.Gln657His) | gnomAD v4 |
| 11 | g.113399910G= | CA2001153217 | ANKK1 | c.1941G= (p.Gln647=) c.1974G= (p.Gln658=) c.1944G= (p.Gln648=) c.1752G= (p.Gln584=) c.1971G= (p.Gln657=) | |
| 11 | g.113399910G>T | CA382646711 | ANKK1 | c.1941G>T (p.Gln647His) c.1974G>T (p.Gln658His) c.1944G>T (p.Gln648His) c.1752G>T (p.Gln584His) c.1971G>T (p.Gln657His) | |
| 11 | g.113399911T>A | CA382646713 | ANKK1 | c.1942T>A (p.Cys648Ser) c.1975T>A (p.Cys659Ser) c.1945T>A (p.Cys649Ser) c.1753T>A (p.Cys585Ser) c.1972T>A (p.Cys658Ser) | |
| 11 | g.113399911T>C | CA382646715 | ANKK1 | c.1942T>C (p.Cys648Arg) c.1975T>C (p.Cys659Arg) c.1945T>C (p.Cys649Arg) c.1753T>C (p.Cys585Arg) c.1972T>C (p.Cys658Arg) | |
| 11 | g.113399911T>G | CA382646717 | ANKK1 | c.1942T>G (p.Cys648Gly) c.1975T>G (p.Cys659Gly) c.1945T>G (p.Cys649Gly) c.1753T>G (p.Cys585Gly) c.1972T>G (p.Cys658Gly) | |
| 11 | g.113399912G>A | CA6281048 | ANKK1 | c.1943G>A (p.Cys648Tyr) c.1976G>A (p.Cys659Tyr) c.1946G>A (p.Cys649Tyr) c.1754G>A (p.Cys585Tyr) c.1973G>A (p.Cys658Tyr) | dbSNP ExAC |
| 11 | g.113399912G>C | CA382646723 | ANKK1 | c.1943G>C (p.Cys648Ser) c.1976G>C (p.Cys659Ser) c.1946G>C (p.Cys649Ser) c.1754G>C (p.Cys585Ser) c.1973G>C (p.Cys658Ser) | |
| 11 | g.113399912G= | CA2001153223 | ANKK1 | c.1943G= (p.Cys648=) c.1976G= (p.Cys659=) c.1946G= (p.Cys649=) c.1754G= (p.Cys585=) c.1973G= (p.Cys658=) | |
| 11 | g.113399912G>T | CA382646721 | ANKK1 | c.1943G>T (p.Cys648Phe) c.1976G>T (p.Cys659Phe) c.1946G>T (p.Cys649Phe) c.1754G>T (p.Cys585Phe) c.1973G>T (p.Cys658Phe) | |
| 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.113399913T>A | CA382646725 | ANKK1 | c.1944T>A (p.Cys648Ter) c.1977T>A (p.Cys659Ter) c.1947T>A (p.Cys649Ter) c.1755T>A (p.Cys585Ter) c.1974T>A (p.Cys658Ter) | |
| 11 | g.113399913T>C | CA477042945 | ANKK1 | c.1944T>C (p.Cys648=) c.1977T>C (p.Cys659=) c.1947T>C (p.Cys649=) c.1755T>C (p.Cys585=) c.1974T>C (p.Cys658=) | |
| 11 | g.113399913T>G | CA382646727 | ANKK1 | c.1944T>G (p.Cys648Trp) c.1977T>G (p.Cys659Trp) c.1947T>G (p.Cys649Trp) c.1755T>G (p.Cys585Trp) c.1974T>G (p.Cys658Trp) | |
| 11 | g.113399914G>A | CA382646729 | ANKK1 | c.1945G>A (p.Gly649Arg) c.1978G>A (p.Gly660Arg) c.1948G>A (p.Gly650Arg) c.1756G>A (p.Gly586Arg) c.1975G>A (p.Gly659Arg) | |
| 11 | g.113399914G>C | CA382646731 | ANKK1 | c.1945G>C (p.Gly649Arg) c.1978G>C (p.Gly660Arg) c.1948G>C (p.Gly650Arg) c.1756G>C (p.Gly586Arg) c.1975G>C (p.Gly659Arg) | |
| 11 | g.113399914G>T | CA382646733 | ANKK1 | c.1945G>T (p.Gly649Trp) c.1978G>T (p.Gly660Trp) c.1948G>T (p.Gly650Trp) c.1756G>T (p.Gly586Trp) c.1975G>T (p.Gly659Trp) | |
| 11 | g.113399915G>A | CA382646739 | ANKK1 | c.1946G>A (p.Gly649Glu) c.1979G>A (p.Gly660Glu) c.1949G>A (p.Gly650Glu) c.1757G>A (p.Gly586Glu) c.1976G>A (p.Gly659Glu) | |
| 11 | g.113399915G>C | CA382646737 | ANKK1 | c.1946G>C (p.Gly649Ala) c.1979G>C (p.Gly660Ala) c.1949G>C (p.Gly650Ala) c.1757G>C (p.Gly586Ala) c.1976G>C (p.Gly659Ala) | |
| 11 | g.113399915G>T | CA382646735 | ANKK1 | c.1946G>T (p.Gly649Val) c.1979G>T (p.Gly660Val) c.1949G>T (p.Gly650Val) c.1757G>T (p.Gly586Val) c.1976G>T (p.Gly659Val) | |
| 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 |