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 |
|---|---|---|---|---|---|
| 16 | g.89284345G>A | CA10603433 | ANKRD11 | c.2197C>T (p.Arg733Ter) c.*2000C>T (n.*2000C>T) c.1822C>T (p.Arg608Ter) c.744+4183C>T (n.744+4183C>T) n.3969C>T c.151+4183C>T c.2095C>T (p.Arg699Ter) c.1900C>T (p.Arg634Ter) c.2068C>T (p.Arg690Ter) | ClinVar dbSNP |
| 16 | g.89284345G>C | CA397162965 | ANKRD11 | c.2197C>G (p.Arg733Gly) c.*2000C>G (n.*2000C>G) c.1822C>G (p.Arg608Gly) c.744+4183C>G (n.744+4183C>G) n.3969C>G c.151+4183C>G c.2095C>G (p.Arg699Gly) c.1900C>G (p.Arg634Gly) c.2068C>G (p.Arg690Gly) | |
| 16 | g.89284345G= | CA2241602496 | ANKRD11 | c.2197C= (p.Arg733=) c.*2000C= (n.*2000C=) c.1822C= (p.Arg608=) c.744+4183C= (n.744+4183C=) n.3969C= c.151+4183C= c.2095C= (p.Arg699=) c.1900C= (p.Arg634=) c.2068C= (p.Arg690=) | |
| 16 | g.89284345G>T | CA497375336 | ANKRD11 | c.2197C>A (p.Arg733=) c.*2000C>A (n.*2000C>A) c.1822C>A (p.Arg608=) c.744+4183C>A (n.744+4183C>A) n.3969C>A c.151+4183C>A c.2095C>A (p.Arg699=) c.1900C>A (p.Arg634=) c.2068C>A (p.Arg690=) | dbSNP |
| 16 | g.89284346G>A | CA497375338 | ANKRD11 | c.2196C>T (p.Phe732=) c.*1999C>T (n.*1999C>T) c.1821C>T (p.Phe607=) c.744+4182C>T (n.744+4182C>T) n.3968C>T c.151+4182C>T c.2094C>T (p.Phe698=) c.1899C>T (p.Phe633=) c.2067C>T (p.Phe689=) | |
| 16 | g.89284346G>C | CA397162966 | ANKRD11 | c.2196C>G (p.Phe732Leu) c.*1999C>G (n.*1999C>G) c.1821C>G (p.Phe607Leu) c.744+4182C>G (n.744+4182C>G) n.3968C>G c.151+4182C>G c.2094C>G (p.Phe698Leu) c.1899C>G (p.Phe633Leu) c.2067C>G (p.Phe689Leu) | |
| 16 | g.89284346G>T | CA397162967 | ANKRD11 | c.2196C>A (p.Phe732Leu) c.*1999C>A (n.*1999C>A) c.1821C>A (p.Phe607Leu) c.744+4182C>A (n.744+4182C>A) n.3968C>A c.151+4182C>A c.2094C>A (p.Phe698Leu) c.1899C>A (p.Phe633Leu) c.2067C>A (p.Phe689Leu) | |
| 16 | g.89284347A>C | CA397162969 | ANKRD11 | c.2195T>G (p.Phe732Cys) c.*1998T>G (n.*1998T>G) c.1820T>G (p.Phe607Cys) c.744+4181T>G (n.744+4181T>G) n.3967T>G c.151+4181T>G c.2093T>G (p.Phe698Cys) c.1898T>G (p.Phe633Cys) c.2066T>G (p.Phe689Cys) | |
| 16 | g.89284347A>G | CA397162970 | ANKRD11 | c.2195T>C (p.Phe732Ser) c.*1998T>C (n.*1998T>C) c.1820T>C (p.Phe607Ser) c.744+4181T>C (n.744+4181T>C) n.3967T>C c.151+4181T>C c.2093T>C (p.Phe698Ser) c.1898T>C (p.Phe633Ser) c.2066T>C (p.Phe689Ser) | |
| 16 | g.89284347A>T | CA397162968 | ANKRD11 | c.2195T>A (p.Phe732Tyr) c.*1998T>A (n.*1998T>A) c.1820T>A (p.Phe607Tyr) c.744+4181T>A (n.744+4181T>A) n.3967T>A c.151+4181T>A c.2093T>A (p.Phe698Tyr) c.1898T>A (p.Phe633Tyr) c.2066T>A (p.Phe689Tyr) | |
| 16 | g.89284348A= | CA2241602498 | ANKRD11 | c.2194T= (p.Phe732=) c.*1997T= (n.*1997T=) c.1819T= (p.Phe607=) c.744+4180T= (n.744+4180T=) n.3966T= c.151+4180T= c.2092T= (p.Phe698=) c.1897T= (p.Phe633=) c.2065T= (p.Phe689=) | |
| 16 | g.89284348A>C | CA397162971 | ANKRD11 | c.2194T>G (p.Phe732Val) c.*1997T>G (n.*1997T>G) c.1819T>G (p.Phe607Val) c.744+4180T>G (n.744+4180T>G) n.3966T>G c.151+4180T>G c.2092T>G (p.Phe698Val) c.1897T>G (p.Phe633Val) c.2065T>G (p.Phe689Val) | ClinVar |
| 16 | g.89284348A>G | CA8242625 | ANKRD11 | c.2194T>C (p.Phe732Leu) c.*1997T>C (n.*1997T>C) c.1819T>C (p.Phe607Leu) c.744+4180T>C (n.744+4180T>C) n.3966T>C c.151+4180T>C c.2092T>C (p.Phe698Leu) c.1897T>C (p.Phe633Leu) c.2065T>C (p.Phe689Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89284348A>T | CA397162972 | ANKRD11 | c.2194T>A (p.Phe732Ile) c.*1997T>A (n.*1997T>A) c.1819T>A (p.Phe607Ile) c.744+4180T>A (n.744+4180T>A) n.3966T>A c.151+4180T>A c.2092T>A (p.Phe698Ile) c.1897T>A (p.Phe633Ile) c.2065T>A (p.Phe689Ile) | |
| 16 | g.89284349A>C | CA497375040 | ANKRD11 | c.2193T>G (p.Ser731=) c.*1996T>G (n.*1996T>G) c.1818T>G (p.Ser606=) c.744+4179T>G (n.744+4179T>G) n.3965T>G c.151+4179T>G c.2091T>G (p.Ser697=) c.1896T>G (p.Ser632=) c.2064T>G (p.Ser688=) | |
| 16 | g.89284349A>G | CA497375042 | ANKRD11 | c.2193T>C (p.Ser731=) c.*1996T>C (n.*1996T>C) c.1818T>C (p.Ser606=) c.744+4179T>C (n.744+4179T>C) n.3965T>C c.151+4179T>C c.2091T>C (p.Ser697=) c.1896T>C (p.Ser632=) c.2064T>C (p.Ser688=) | gnomAD v4 |
| 16 | g.89284349A>T | CA497375044 | ANKRD11 | c.2193T>A (p.Ser731=) c.*1996T>A (n.*1996T>A) c.1818T>A (p.Ser606=) c.744+4179T>A (n.744+4179T>A) n.3965T>A c.151+4179T>A c.2091T>A (p.Ser697=) c.1896T>A (p.Ser632=) c.2064T>A (p.Ser688=) | gnomAD v4 |
| 16 | g.89284350G>A | CA397162973 | ANKRD11 | c.2192C>T (p.Ser731Phe) c.*1995C>T (n.*1995C>T) c.1817C>T (p.Ser606Phe) c.744+4178C>T (n.744+4178C>T) n.3964C>T c.151+4178C>T c.2090C>T (p.Ser697Phe) c.1895C>T (p.Ser632Phe) c.2063C>T (p.Ser688Phe) | gnomAD v4 |
| 16 | g.89284350G>C | CA397162974 | ANKRD11 | c.2192C>G (p.Ser731Cys) c.*1995C>G (n.*1995C>G) c.1817C>G (p.Ser606Cys) c.744+4178C>G (n.744+4178C>G) n.3964C>G c.151+4178C>G c.2090C>G (p.Ser697Cys) c.1895C>G (p.Ser632Cys) c.2063C>G (p.Ser688Cys) | |
| 16 | g.89284350G>T | CA397162975 | ANKRD11 | c.2192C>A (p.Ser731Tyr) c.*1995C>A (n.*1995C>A) c.1817C>A (p.Ser606Tyr) c.744+4178C>A (n.744+4178C>A) n.3964C>A c.151+4178C>A c.2090C>A (p.Ser697Tyr) c.1895C>A (p.Ser632Tyr) c.2063C>A (p.Ser688Tyr) | |
| 16 | g.89284351A>C | CA397162976 | ANKRD11 | c.2191T>G (p.Ser731Ala) c.*1994T>G (n.*1994T>G) c.1816T>G (p.Ser606Ala) c.744+4177T>G (n.744+4177T>G) n.3963T>G c.151+4177T>G c.2089T>G (p.Ser697Ala) c.1894T>G (p.Ser632Ala) c.2062T>G (p.Ser688Ala) | |
| 16 | g.89284351A>G | CA397162977 | ANKRD11 | c.2191T>C (p.Ser731Pro) c.*1994T>C (n.*1994T>C) c.1816T>C (p.Ser606Pro) c.744+4177T>C (n.744+4177T>C) n.3963T>C c.151+4177T>C c.2089T>C (p.Ser697Pro) c.1894T>C (p.Ser632Pro) c.2062T>C (p.Ser688Pro) | |
| 16 | g.89284351A>T | CA397162978 | ANKRD11 | c.2191T>A (p.Ser731Thr) c.*1994T>A (n.*1994T>A) c.1816T>A (p.Ser606Thr) c.744+4177T>A (n.744+4177T>A) n.3963T>A c.151+4177T>A c.2089T>A (p.Ser697Thr) c.1894T>A (p.Ser632Thr) c.2062T>A (p.Ser688Thr) | |
| 16 | g.89284352C>A | CA397162979 | ANKRD11 | c.2190G>T (p.Arg730Ser) c.*1993G>T (n.*1993G>T) c.1815G>T (p.Arg605Ser) c.744+4176G>T (n.744+4176G>T) n.3962G>T c.151+4176G>T c.2088G>T (p.Arg696Ser) c.1893G>T (p.Arg631Ser) c.2061G>T (p.Arg687Ser) | dbSNP |
| 16 | g.89284352C= | CA2241602499 | ANKRD11 | c.2190G= (p.Arg730=) c.*1993G= (n.*1993G=) c.1815G= (p.Arg605=) c.744+4176G= (n.744+4176G=) n.3962G= c.151+4176G= c.2088G= (p.Arg696=) c.1893G= (p.Arg631=) c.2061G= (p.Arg687=) | |
| 16 | g.89284352C>G | CA397162980 | ANKRD11 | c.2190G>C (p.Arg730Ser) c.*1993G>C (n.*1993G>C) c.1815G>C (p.Arg605Ser) c.744+4176G>C (n.744+4176G>C) n.3962G>C c.151+4176G>C c.2088G>C (p.Arg696Ser) c.1893G>C (p.Arg631Ser) c.2061G>C (p.Arg687Ser) | |
| 16 | g.89284352C>T | CA497375047 | ANKRD11 | c.2190G>A (p.Arg730=) c.*1993G>A (n.*1993G>A) c.1815G>A (p.Arg605=) c.744+4176G>A (n.744+4176G>A) n.3962G>A c.151+4176G>A c.2088G>A (p.Arg696=) c.1893G>A (p.Arg631=) c.2061G>A (p.Arg687=) | dbSNP gnomAD v4 |
| 16 | g.89284352_89284355delinsCCTG | CA2241602500 | ANKRD11 | c.2187_2190delinsCAGG (p.Ser729=) c.*1990_*1993delinsCAGG (n.*1990_*1993delinsCAGG) c.1812_1815delinsCAGG (p.Ser604=) c.744+4173_744+4176delinsCAGG (n.744+4173_744+4176delinsCAGG) n.3959_3962delinsCAGG c.151+4173_151+4176delinsCAGG c.2085_2088delinsCAGG (p.Ser695=) c.1890_1893delinsCAGG (p.Ser630=) c.2058_2061delinsCAGG (p.Ser686=) | |
| 16 | g.89284353C>A | CA397162981 | ANKRD11 | c.2189G>T (p.Arg730Met) c.*1992G>T (n.*1992G>T) c.1814G>T (p.Arg605Met) c.744+4175G>T (n.744+4175G>T) n.3961G>T c.151+4175G>T c.2087G>T (p.Arg696Met) c.1892G>T (p.Arg631Met) c.2060G>T (p.Arg687Met) | |
| 16 | g.89284353C= | CA2241602504 | ANKRD11 | c.2189G= (p.Arg730=) c.*1992G= (n.*1992G=) c.1814G= (p.Arg605=) c.744+4175G= (n.744+4175G=) n.3961G= c.151+4175G= c.2087G= (p.Arg696=) c.1892G= (p.Arg631=) c.2060G= (p.Arg687=) | |
| 16 | g.89284353C>G | CA397162982 | ANKRD11 | c.2189G>C (p.Arg730Thr) c.*1992G>C (n.*1992G>C) c.1814G>C (p.Arg605Thr) c.744+4175G>C (n.744+4175G>C) n.3961G>C c.151+4175G>C c.2087G>C (p.Arg696Thr) c.1892G>C (p.Arg631Thr) c.2060G>C (p.Arg687Thr) | gnomAD v4 |
| 16 | g.89284353C>T | CA397162983 | ANKRD11 | c.2189G>A (p.Arg730Lys) c.*1992G>A (n.*1992G>A) c.1814G>A (p.Arg605Lys) c.744+4175G>A (n.744+4175G>A) n.3961G>A c.151+4175G>A c.2087G>A (p.Arg696Lys) c.1892G>A (p.Arg631Lys) c.2060G>A (p.Arg687Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.89284356_89284358del | CA2241602502 | ANKRD11 | c.2187_2189del (p.Ser729del) c.*1990_*1992del (n.*1990_*1992del) c.1812_1814del (p.Ser604del) c.744+4173_744+4175del (n.744+4173_744+4175del) n.3959_3961del c.151+4173_151+4175del c.2085_2087del (p.Ser695del) c.1890_1892del (p.Ser630del) c.2058_2060del (p.Ser686del) | ClinVar dbSNP |
| 16 | g.89284354T>A | CA397162985 | ANKRD11 | c.2188A>T (p.Arg730Trp) c.*1991A>T (n.*1991A>T) c.1813A>T (p.Arg605Trp) c.744+4174A>T (n.744+4174A>T) n.3960A>T c.151+4174A>T c.2086A>T (p.Arg696Trp) c.1891A>T (p.Arg631Trp) c.2059A>T (p.Arg687Trp) | |
| 16 | g.89284354T>C | CA397162984 | ANKRD11 | c.2188A>G (p.Arg730Gly) c.*1991A>G (n.*1991A>G) c.1813A>G (p.Arg605Gly) c.744+4174A>G (n.744+4174A>G) n.3960A>G c.151+4174A>G c.2086A>G (p.Arg696Gly) c.1891A>G (p.Arg631Gly) c.2059A>G (p.Arg687Gly) | |
| 16 | g.89284354T>G | CA497375052 | ANKRD11 | c.2188A>C (p.Arg730=) c.*1991A>C (n.*1991A>C) c.1813A>C (p.Arg605=) c.744+4174A>C (n.744+4174A>C) n.3960A>C c.151+4174A>C c.2086A>C (p.Arg696=) c.1891A>C (p.Arg631=) c.2059A>C (p.Arg687=) | |
| 16 | g.89284355G>A | CA497375058 | ANKRD11 | c.2187C>T (p.Ser729=) c.*1990C>T (n.*1990C>T) c.1812C>T (p.Ser604=) c.744+4173C>T (n.744+4173C>T) n.3959C>T c.151+4173C>T c.2085C>T (p.Ser695=) c.1890C>T (p.Ser630=) c.2058C>T (p.Ser686=) | |
| 16 | g.89284355G>C | CA397162986 | ANKRD11 | c.2187C>G (p.Ser729Arg) c.*1990C>G (n.*1990C>G) c.1812C>G (p.Ser604Arg) c.744+4173C>G (n.744+4173C>G) n.3959C>G c.151+4173C>G c.2085C>G (p.Ser695Arg) c.1890C>G (p.Ser630Arg) c.2058C>G (p.Ser686Arg) | |
| 16 | g.89284355G>T | CA397162987 | ANKRD11 | c.2187C>A (p.Ser729Arg) c.*1990C>A (n.*1990C>A) c.1812C>A (p.Ser604Arg) c.744+4173C>A (n.744+4173C>A) n.3959C>A c.151+4173C>A c.2085C>A (p.Ser695Arg) c.1890C>A (p.Ser630Arg) c.2058C>A (p.Ser686Arg) | |
| 16 | g.89284356C>A | CA397162988 | ANKRD11 | c.2186G>T (p.Ser729Ile) c.*1989G>T (n.*1989G>T) c.1811G>T (p.Ser604Ile) c.744+4172G>T (n.744+4172G>T) n.3958G>T c.151+4172G>T c.2084G>T (p.Ser695Ile) c.1889G>T (p.Ser630Ile) c.2057G>T (p.Ser686Ile) | |
| 16 | g.89284356C>G | CA397162989 | ANKRD11 | c.2186G>C (p.Ser729Thr) c.*1989G>C (n.*1989G>C) c.1811G>C (p.Ser604Thr) c.744+4172G>C (n.744+4172G>C) n.3958G>C c.151+4172G>C c.2084G>C (p.Ser695Thr) c.1889G>C (p.Ser630Thr) c.2057G>C (p.Ser686Thr) | |
| 16 | g.89284356C>T | CA397162990 | ANKRD11 | c.2186G>A (p.Ser729Asn) c.*1989G>A (n.*1989G>A) c.1811G>A (p.Ser604Asn) c.744+4172G>A (n.744+4172G>A) n.3958G>A c.151+4172G>A c.2084G>A (p.Ser695Asn) c.1889G>A (p.Ser630Asn) c.2057G>A (p.Ser686Asn) | |
| 16 | g.89284357T>A | CA397162991 | ANKRD11 | c.2185A>T (p.Ser729Cys) c.*1988A>T (n.*1988A>T) c.1810A>T (p.Ser604Cys) c.744+4171A>T (n.744+4171A>T) n.3957A>T c.151+4171A>T c.2083A>T (p.Ser695Cys) c.1888A>T (p.Ser630Cys) c.2056A>T (p.Ser686Cys) | |
| 16 | g.89284357T>C | CA397162992 | ANKRD11 | c.2185A>G (p.Ser729Gly) c.*1988A>G (n.*1988A>G) c.1810A>G (p.Ser604Gly) c.744+4171A>G (n.744+4171A>G) n.3957A>G c.151+4171A>G c.2083A>G (p.Ser695Gly) c.1888A>G (p.Ser630Gly) c.2056A>G (p.Ser686Gly) | dbSNP gnomAD v4 |
| 16 | g.89284357T>G | CA397162993 | ANKRD11 | c.2185A>C (p.Ser729Arg) c.*1988A>C (n.*1988A>C) c.1810A>C (p.Ser604Arg) c.744+4171A>C (n.744+4171A>C) n.3957A>C c.151+4171A>C c.2083A>C (p.Ser695Arg) c.1888A>C (p.Ser630Arg) c.2056A>C (p.Ser686Arg) | |
| 16 | g.89284357T= | CA2241602506 | ANKRD11 | c.2185A= (p.Ser729=) c.*1988A= (n.*1988A=) c.1810A= (p.Ser604=) c.744+4171A= (n.744+4171A=) n.3957A= c.151+4171A= c.2083A= (p.Ser695=) c.1888A= (p.Ser630=) c.2056A= (p.Ser686=) | |
| 16 | g.89284358del | CA2739266983 | ANKRD11 | c.2184del (p.Ser729AlafsTer20) c.*1987del (n.*1987del) c.1809del (p.Ser604AlafsTer20) c.744+4170del (n.744+4170del) n.3956del c.151+4170del c.2082del (p.Ser695AlafsTer20) c.1887del (p.Ser630AlafsTer20) c.2055del (p.Ser686AlafsTer20) | ClinVar |
| 16 | g.89284358G>A | CA497375063 | ANKRD11 | c.2184C>T (p.Ile728=) c.*1987C>T (n.*1987C>T) c.1809C>T (p.Ile603=) c.744+4170C>T (n.744+4170C>T) n.3956C>T c.151+4170C>T c.2082C>T (p.Ile694=) c.1887C>T (p.Ile629=) c.2055C>T (p.Ile685=) | gnomAD v4 |
| 16 | g.89284358G>C | CA8242626 | ANKRD11 | c.2184C>G (p.Ile728Met) c.*1987C>G (n.*1987C>G) c.1809C>G (p.Ile603Met) c.744+4170C>G (n.744+4170C>G) n.3956C>G c.151+4170C>G c.2082C>G (p.Ile694Met) c.1887C>G (p.Ile629Met) c.2055C>G (p.Ile685Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89284358G= | CA2241602508 | ANKRD11 | c.2184C= (p.Ile728=) c.*1987C= (n.*1987C=) c.1809C= (p.Ile603=) c.744+4170C= (n.744+4170C=) n.3956C= c.151+4170C= c.2082C= (p.Ile694=) c.1887C= (p.Ile629=) c.2055C= (p.Ile685=) |