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 |
|---|---|---|---|---|---|
| 1 | g.99881130_99881142delinsTGTGCTAGTGGAA | CA1183929207 | AGL | c.1954_1966delinsTGTGCTAGTGGAA (p.Cys652=) n.2165_2177delinsTGTGCTAGTGGAA c.1906_1918delinsTGTGCTAGTGGAA (p.Cys636=) c.1903_1915delinsTGTGCTAGTGGAA (p.Cys635=) c.214_226delinsTGTGCTAGTGGAA (p.Cys72=) | |
| 1 | g.99881133_99881144del | CA966650 | AGL | c.1957_1968del (p.Ala653_Ser656del) n.2168_2179del c.1909_1920del (p.Ala637_Ser640del) c.1906_1917del (p.Ala636_Ser639del) c.217_228del (p.Ala73_Ser76del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881142A= | CA1183929214 | AGL | c.1966A= (p.Ser656=) n.2177A= c.1918A= (p.Ser640=) c.1915A= (p.Ser639=) c.226A= (p.Ser76=) | |
| 1 | g.99881142A>C | CA966653 | AGL | c.1966A>C (p.Ser656Arg) n.2177A>C c.1918A>C (p.Ser640Arg) c.1915A>C (p.Ser639Arg) c.226A>C (p.Ser76Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.99881142A>G | CA341318161 | AGL | c.1966A>G (p.Ser656Gly) n.2177A>G c.1918A>G (p.Ser640Gly) c.1915A>G (p.Ser639Gly) c.226A>G (p.Ser76Gly) | |
| 1 | g.99881142A>T | CA341318164 | AGL | c.1966A>T (p.Ser656Cys) n.2177A>T c.1918A>T (p.Ser640Cys) c.1915A>T (p.Ser639Cys) c.226A>T (p.Ser76Cys) | |
| 1 | g.99881143G>A | CA341318170 | AGL | c.1967G>A (p.Ser656Asn) n.2178G>A c.1919G>A (p.Ser640Asn) c.1916G>A (p.Ser639Asn) c.227G>A (p.Ser76Asn) | gnomAD v4 |
| 1 | g.99881143G>C | CA341318172 | AGL | c.1967G>C (p.Ser656Thr) n.2178G>C c.1919G>C (p.Ser640Thr) c.1916G>C (p.Ser639Thr) c.227G>C (p.Ser76Thr) | |
| 1 | g.99881143G>T | CA341318175 | AGL | c.1967G>T (p.Ser656Ile) n.2178G>T c.1919G>T (p.Ser640Ile) c.1916G>T (p.Ser639Ile) c.227G>T (p.Ser76Ile) | |
| 1 | g.99881144T>A | CA341318179 | AGL | c.1968T>A (p.Ser656Arg) n.2179T>A c.1920T>A (p.Ser640Arg) c.1917T>A (p.Ser639Arg) c.228T>A (p.Ser76Arg) | |
| 1 | g.99881144T>C | CA419314175 | AGL | c.1968T>C (p.Ser656=) n.2179T>C c.1920T>C (p.Ser640=) c.1917T>C (p.Ser639=) c.228T>C (p.Ser76=) | |
| 1 | g.99881144T>G | CA341318181 | AGL | c.1968T>G (p.Ser656Arg) n.2179T>G c.1920T>G (p.Ser640Arg) c.1917T>G (p.Ser639Arg) c.228T>G (p.Ser76Arg) | |
| 1 | g.99881145A>C | CA341318191 | AGL | c.1969A>C (p.Thr657Pro) n.2180A>C c.1921A>C (p.Thr641Pro) c.1918A>C (p.Thr640Pro) c.229A>C (p.Thr77Pro) | |
| 1 | g.99881145A>G | CA341318185 | AGL | c.1969A>G (p.Thr657Ala) n.2180A>G c.1921A>G (p.Thr641Ala) c.1918A>G (p.Thr640Ala) c.229A>G (p.Thr77Ala) | |
| 1 | g.99881145A>T | CA341318188 | AGL | c.1969A>T (p.Thr657Ser) n.2180A>T c.1921A>T (p.Thr641Ser) c.1918A>T (p.Thr640Ser) c.229A>T (p.Thr77Ser) | |
| 1 | g.99881146C>A | CA341318194 | AGL | c.1970C>A (p.Thr657Lys) n.2181C>A c.1922C>A (p.Thr641Lys) c.1919C>A (p.Thr640Lys) c.230C>A (p.Thr77Lys) | |
| 1 | g.99881146C= | CA1183929215 | AGL | c.1970C= (p.Thr657=) n.2181C= c.1922C= (p.Thr641=) c.1919C= (p.Thr640=) c.230C= (p.Thr77=) | |
| 1 | g.99881146C>G | CA341318195 | AGL | c.1970C>G (p.Thr657Arg) n.2181C>G c.1922C>G (p.Thr641Arg) c.1919C>G (p.Thr640Arg) c.230C>G (p.Thr77Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881146C>T | CA341318198 | AGL | c.1970C>T (p.Thr657Ile) n.2181C>T c.1922C>T (p.Thr641Ile) c.1919C>T (p.Thr640Ile) c.230C>T (p.Thr77Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881147A= | CA1183929216 | AGL | c.1971A= (p.Thr657=) n.2182A= c.1923A= (p.Thr641=) c.1920A= (p.Thr640=) c.231A= (p.Thr77=) | |
| 1 | g.99881147A>C | CA419314176 | AGL | c.1971A>C (p.Thr657=) n.2182A>C c.1923A>C (p.Thr641=) c.1920A>C (p.Thr640=) c.231A>C (p.Thr77=) | |
| 1 | g.99881147A>G | CA966654 | AGL | c.1971A>G (p.Thr657=) n.2182A>G c.1923A>G (p.Thr641=) c.1920A>G (p.Thr640=) c.231A>G (p.Thr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881147A>T | CA419314177 | AGL | c.1971A>T (p.Thr657=) n.2182A>T c.1923A>T (p.Thr641=) c.1920A>T (p.Thr640=) c.231A>T (p.Thr77=) | ClinVar dbSNP |
| 1 | g.99881148A= | CA1183929217 | AGL | c.1972A= (p.Arg658=) n.2183A= c.1924A= (p.Arg642=) c.1921A= (p.Arg641=) c.232A= (p.Arg78=) | |
| 1 | g.99881148A>C | CA419314178 | AGL | c.1972A>C (p.Arg658=) n.2183A>C c.1924A>C (p.Arg642=) c.1921A>C (p.Arg641=) c.232A>C (p.Arg78=) | dbSNP |
| 1 | g.99881148A>G | CA341318201 | AGL | c.1972A>G (p.Arg658Gly) n.2183A>G c.1924A>G (p.Arg642Gly) c.1921A>G (p.Arg641Gly) c.232A>G (p.Arg78Gly) | ClinVar dbSNP COSMIC |
| 1 | g.99881148A>T | CA341318203 | AGL | c.1972A>T (p.Arg658Ter) n.2183A>T c.1924A>T (p.Arg642Ter) c.1921A>T (p.Arg641Ter) c.232A>T (p.Arg78Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881149G>A | CA341318210 | AGL | c.1973G>A (p.Arg658Lys) n.2184G>A c.1925G>A (p.Arg642Lys) c.1922G>A (p.Arg641Lys) c.233G>A (p.Arg78Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881149G>C | CA27515930 | AGL | c.1973G>C (p.Arg658Thr) n.2184G>C c.1925G>C (p.Arg642Thr) c.1922G>C (p.Arg641Thr) c.233G>C (p.Arg78Thr) | dbSNP |
| 1 | g.99881149G= | CA1143523787 | AGL | c.1973G= (p.Arg658=) n.2184G= c.1925G= (p.Arg642=) c.1922G= (p.Arg641=) c.233G= (p.Arg78=) | |
| 1 | g.99881149G>T | CA341318207 | AGL | c.1973G>T (p.Arg658Ile) n.2184G>T c.1925G>T (p.Arg642Ile) c.1922G>T (p.Arg641Ile) c.233G>T (p.Arg78Ile) | |
| 1 | g.99881150A>C | CA341318213 | AGL | c.1974A>C (p.Arg658Ser) n.2185A>C c.1926A>C (p.Arg642Ser) c.1923A>C (p.Arg641Ser) c.234A>C (p.Arg78Ser) | |
| 1 | g.99881150A>G | CA419314179 | AGL | c.1974A>G (p.Arg658=) n.2185A>G c.1926A>G (p.Arg642=) c.1923A>G (p.Arg641=) c.234A>G (p.Arg78=) | |
| 1 | g.99881150A>T | CA341318216 | AGL | c.1974A>T (p.Arg658Ser) n.2185A>T c.1926A>T (p.Arg642Ser) c.1923A>T (p.Arg641Ser) c.234A>T (p.Arg78Ser) | |
| 1 | g.99881151G>A | CA966655 | AGL | c.1975G>A (p.Gly659Ser) n.2186G>A c.1927G>A (p.Gly643Ser) c.1924G>A (p.Gly642Ser) c.235G>A (p.Gly79Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881151G>C | CA341318219 | AGL | c.1975G>C (p.Gly659Arg) n.2186G>C c.1927G>C (p.Gly643Arg) c.1924G>C (p.Gly642Arg) c.235G>C (p.Gly79Arg) | |
| 1 | g.99881151G= | CA1183929218 | AGL | c.1975G= (p.Gly659=) n.2186G= c.1927G= (p.Gly643=) c.1924G= (p.Gly642=) c.235G= (p.Gly79=) | |
| 1 | g.99881151G>T | CA341318222 | AGL | c.1975G>T (p.Gly659Cys) n.2186G>T c.1927G>T (p.Gly643Cys) c.1924G>T (p.Gly642Cys) c.235G>T (p.Gly79Cys) | gnomAD v4 |
| 1 | g.99881152G>A | CA341318224 | AGL | c.1976G>A (p.Gly659Asp) n.2187G>A c.1928G>A (p.Gly643Asp) c.1925G>A (p.Gly642Asp) c.236G>A (p.Gly79Asp) | dbSNP gnomAD v4 |
| 1 | g.99881152G>C | CA341318227 | AGL | c.1976G>C (p.Gly659Ala) n.2187G>C c.1928G>C (p.Gly643Ala) c.1925G>C (p.Gly642Ala) c.236G>C (p.Gly79Ala) | |
| 1 | g.99881152G= | CA1183929219 | AGL | c.1976G= (p.Gly659=) n.2187G= c.1928G= (p.Gly643=) c.1925G= (p.Gly642=) c.236G= (p.Gly79=) | |
| 1 | g.99881152G>T | CA341318225 | AGL | c.1976G>T (p.Gly659Val) n.2187G>T c.1928G>T (p.Gly643Val) c.1925G>T (p.Gly642Val) c.236G>T (p.Gly79Val) | |
| 1 | g.99881153C>A | CA419314180 | AGL | c.1977C>A (p.Gly659=) n.2188C>A c.1929C>A (p.Gly643=) c.1926C>A (p.Gly642=) c.237C>A (p.Gly79=) | |
| 1 | g.99881153C>G | CA419314181 | AGL | c.1977C>G (p.Gly659=) n.2188C>G c.1929C>G (p.Gly643=) c.1926C>G (p.Gly642=) c.237C>G (p.Gly79=) | |
| 1 | g.99881153C>T | CA419314182 | AGL | c.1977C>T (p.Gly659=) n.2188C>T c.1929C>T (p.Gly643=) c.1926C>T (p.Gly642=) c.237C>T (p.Gly79=) | gnomAD v4 |
| 1 | g.99881154T>A | CA341318229 | AGL | c.1978T>A (p.Tyr660Asn) n.2189T>A c.1930T>A (p.Tyr644Asn) c.1927T>A (p.Tyr643Asn) c.238T>A (p.Tyr80Asn) | |
| 1 | g.99881154T>C | CA341318231 | AGL | c.1978T>C (p.Tyr660His) n.2189T>C c.1930T>C (p.Tyr644His) c.1927T>C (p.Tyr643His) c.238T>C (p.Tyr80His) | |
| 1 | g.99881154T>G | CA341318233 | AGL | c.1978T>G (p.Tyr660Asp) n.2189T>G c.1930T>G (p.Tyr644Asp) c.1927T>G (p.Tyr643Asp) c.238T>G (p.Tyr80Asp) | |
| 1 | g.99881155A= | CA1143001585 | AGL | c.1979A= (p.Tyr660=) n.2190A= c.1931A= (p.Tyr644=) c.1928A= (p.Tyr643=) c.239A= (p.Tyr80=) | |
| 1 | g.99881155A>C | CA966656 | AGL | c.1979A>C (p.Tyr660Ser) n.2190A>C c.1931A>C (p.Tyr644Ser) c.1928A>C (p.Tyr643Ser) c.239A>C (p.Tyr80Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |