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 |
|---|---|---|---|---|---|
| 3 | g.122283852_122283886dup | CA1139658226 | CASR | c.1667_1701dup (p.Ala568CysfsTer?) c.1928_1962dup (p.Ala655CysfsTer?) c.1898_1932dup (p.Ala645CysfsTer?) c.1415_1449dup (p.Ala484CysfsTer?) c.1310_1344dup (p.Ala449CysfsTer?) | ClinVar dbSNP |
| 3 | g.122283867G>A | CA2569760 | CASR | c.1682G>A (p.Arg561His) c.1943G>A (p.Arg648His) c.1913G>A (p.Arg638His) c.1430G>A (p.Arg477His) c.1325G>A (p.Arg442His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283867G>C | CA354157957 | CASR | c.1682G>C (p.Arg561Pro) c.1943G>C (p.Arg648Pro) c.1913G>C (p.Arg638Pro) c.1430G>C (p.Arg477Pro) c.1325G>C (p.Arg442Pro) | |
| 3 | g.122283867G= | CA1397871148 | CASR | c.1682G= (p.Arg561=) c.1943G= (p.Arg648=) c.1913G= (p.Arg638=) c.1430G= (p.Arg477=) c.1325G= (p.Arg442=) | |
| 3 | g.122283867G>T | CA10588349 | CASR | c.1682G>T (p.Arg561Leu) c.1943G>T (p.Arg648Leu) c.1913G>T (p.Arg638Leu) c.1430G>T (p.Arg477Leu) c.1325G>T (p.Arg442Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283867dup | CA915941530 | CASR | c.1682dup (p.Asn562GlnfsTer?) c.1943dup (p.Asn649GlnfsTer?) c.1913dup (p.Asn639GlnfsTer?) c.1430dup (p.Asn478GlnfsTer?) c.1325dup (p.Asn443GlnfsTer?) | ClinVar dbSNP |
| 3 | g.122283868C>A | CA435251974 | CASR | c.1683C>A (p.Arg561=) c.1944C>A (p.Arg648=) c.1914C>A (p.Arg638=) c.1431C>A (p.Arg477=) c.1326C>A (p.Arg442=) | ClinVar |
| 3 | g.122283868C= | CA1397871153 | CASR | c.1683C= (p.Arg561=) c.1944C= (p.Arg648=) c.1914C= (p.Arg638=) c.1431C= (p.Arg477=) c.1326C= (p.Arg442=) | |
| 3 | g.122283868C>G | CA435251973 | CASR | c.1683C>G (p.Arg561=) c.1944C>G (p.Arg648=) c.1914C>G (p.Arg638=) c.1431C>G (p.Arg477=) c.1326C>G (p.Arg442=) | |
| 3 | g.122283868C>T | CA2569761 | CASR | c.1683C>T (p.Arg561=) c.1944C>T (p.Arg648=) c.1914C>T (p.Arg638=) c.1431C>T (p.Arg477=) c.1326C>T (p.Arg442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283869A>C | CA354157961 | CASR | c.1684A>C (p.Asn562His) c.1945A>C (p.Asn649His) c.1915A>C (p.Asn639His) c.1432A>C (p.Asn478His) c.1327A>C (p.Asn443His) | gnomAD v4 |
| 3 | g.122283869A>G | CA354157963 | CASR | c.1684A>G (p.Asn562Asp) c.1945A>G (p.Asn649Asp) c.1915A>G (p.Asn639Asp) c.1432A>G (p.Asn478Asp) c.1327A>G (p.Asn443Asp) | |
| 3 | g.122283869A>T | CA354157964 | CASR | c.1684A>T (p.Asn562Tyr) c.1945A>T (p.Asn649Tyr) c.1915A>T (p.Asn639Tyr) c.1432A>T (p.Asn478Tyr) c.1327A>T (p.Asn443Tyr) | |
| 3 | g.122283870A= | CA1397871159 | CASR | c.1685A= (p.Asn562=) c.1946A= (p.Asn649=) c.1916A= (p.Asn639=) c.1433A= (p.Asn478=) c.1328A= (p.Asn443=) | |
| 3 | g.122283870A>C | CA354157967 | CASR | c.1685A>C (p.Asn562Thr) c.1946A>C (p.Asn649Thr) c.1916A>C (p.Asn639Thr) c.1433A>C (p.Asn478Thr) c.1328A>C (p.Asn443Thr) | |
| 3 | g.122283870A>G | CA354157969 | CASR | c.1685A>G (p.Asn562Ser) c.1946A>G (p.Asn649Ser) c.1916A>G (p.Asn639Ser) c.1433A>G (p.Asn478Ser) c.1328A>G (p.Asn443Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283870A>T | CA354157970 | CASR | c.1685A>T (p.Asn562Ile) c.1946A>T (p.Asn649Ile) c.1916A>T (p.Asn639Ile) c.1433A>T (p.Asn478Ile) c.1328A>T (p.Asn443Ile) | ClinVar |
| 3 | g.122283871C>A | CA354157973 | CASR | c.1686C>A (p.Asn562Lys) c.1947C>A (p.Asn649Lys) c.1917C>A (p.Asn639Lys) c.1434C>A (p.Asn478Lys) c.1329C>A (p.Asn443Lys) | COSMIC |
| 3 | g.122283871C>G | CA354157975 | CASR | c.1686C>G (p.Asn562Lys) c.1947C>G (p.Asn649Lys) c.1917C>G (p.Asn639Lys) c.1434C>G (p.Asn478Lys) c.1329C>G (p.Asn443Lys) | gnomAD v4 |
| 3 | g.122283871C>T | CA435251977 | CASR | c.1686C>T (p.Asn562=) c.1947C>T (p.Asn649=) c.1917C>T (p.Asn639=) c.1434C>T (p.Asn478=) c.1329C>T (p.Asn443=) | |
| 3 | g.122283872A>C | CA354157978 | CASR | c.1687A>C (p.Thr563Pro) c.1948A>C (p.Thr650Pro) c.1918A>C (p.Thr640Pro) c.1435A>C (p.Thr479Pro) c.1330A>C (p.Thr444Pro) | |
| 3 | g.122283872A>G | CA354157979 | CASR | c.1687A>G (p.Thr563Ala) c.1948A>G (p.Thr650Ala) c.1918A>G (p.Thr640Ala) c.1435A>G (p.Thr479Ala) c.1330A>G (p.Thr444Ala) | ClinVar |
| 3 | g.122283872A>T | CA354157980 | CASR | c.1687A>T (p.Thr563Ser) c.1948A>T (p.Thr650Ser) c.1918A>T (p.Thr640Ser) c.1435A>T (p.Thr479Ser) c.1330A>T (p.Thr444Ser) | |
| 3 | g.122283873C>A | CA354157985 | CASR | c.1688C>A (p.Thr563Lys) c.1949C>A (p.Thr650Lys) c.1919C>A (p.Thr640Lys) c.1436C>A (p.Thr479Lys) c.1331C>A (p.Thr444Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283873C= | CA1397871163 | CASR | c.1688C= (p.Thr563=) c.1949C= (p.Thr650=) c.1919C= (p.Thr640=) c.1436C= (p.Thr479=) c.1331C= (p.Thr444=) | |
| 3 | g.122283873C>G | CA354157987 | CASR | c.1688C>G (p.Thr563Arg) c.1949C>G (p.Thr650Arg) c.1919C>G (p.Thr640Arg) c.1436C>G (p.Thr479Arg) c.1331C>G (p.Thr444Arg) | |
| 3 | g.122283873C>T | CA354157983 | CASR | c.1688C>T (p.Thr563Ile) c.1949C>T (p.Thr650Ile) c.1919C>T (p.Thr640Ile) c.1436C>T (p.Thr479Ile) c.1331C>T (p.Thr444Ile) | ClinVar dbSNP |
| 3 | g.122283874A>C | CA435251981 | CASR | c.1689A>C (p.Thr563=) c.1950A>C (p.Thr650=) c.1920A>C (p.Thr640=) c.1437A>C (p.Thr479=) c.1332A>C (p.Thr444=) | |
| 3 | g.122283874A>G | CA435251983 | CASR | c.1689A>G (p.Thr563=) c.1950A>G (p.Thr650=) c.1920A>G (p.Thr640=) c.1437A>G (p.Thr479=) c.1332A>G (p.Thr444=) | gnomAD v4 |
| 3 | g.122283874A>T | CA435251982 | CASR | c.1689A>T (p.Thr563=) c.1950A>T (p.Thr650=) c.1920A>T (p.Thr640=) c.1437A>T (p.Thr479=) c.1332A>T (p.Thr444=) | |
| 3 | g.122283875C>A | CA354157989 | CASR | c.1690C>A (p.Pro564Thr) c.1951C>A (p.Pro651Thr) c.1921C>A (p.Pro641Thr) c.1438C>A (p.Pro480Thr) c.1333C>A (p.Pro445Thr) | |
| 3 | g.122283875C>G | CA354157991 | CASR | c.1690C>G (p.Pro564Ala) c.1951C>G (p.Pro651Ala) c.1921C>G (p.Pro641Ala) c.1438C>G (p.Pro480Ala) c.1333C>G (p.Pro445Ala) | gnomAD v4 |
| 3 | g.122283875C>T | CA354157993 | CASR | c.1690C>T (p.Pro564Ser) c.1951C>T (p.Pro651Ser) c.1921C>T (p.Pro641Ser) c.1438C>T (p.Pro480Ser) c.1333C>T (p.Pro445Ser) | |
| 3 | g.122283876C>A | CA354157995 | CASR | c.1691C>A (p.Pro564His) c.1952C>A (p.Pro651His) c.1922C>A (p.Pro641His) c.1439C>A (p.Pro480His) c.1334C>A (p.Pro445His) | |
| 3 | g.122283876C>G | CA354157997 | CASR | c.1691C>G (p.Pro564Arg) c.1952C>G (p.Pro651Arg) c.1922C>G (p.Pro641Arg) c.1439C>G (p.Pro480Arg) c.1334C>G (p.Pro445Arg) | |
| 3 | g.122283876C>T | CA354157999 | CASR | c.1691C>T (p.Pro564Leu) c.1952C>T (p.Pro651Leu) c.1922C>T (p.Pro641Leu) c.1439C>T (p.Pro480Leu) c.1334C>T (p.Pro445Leu) | |
| 3 | g.122283877C>A | CA435251987 | CASR | c.1692C>A (p.Pro564=) c.1953C>A (p.Pro651=) c.1923C>A (p.Pro641=) c.1440C>A (p.Pro480=) c.1335C>A (p.Pro445=) | gnomAD v4 |
| 3 | g.122283877C= | CA1397871171 | CASR | c.1692C= (p.Pro564=) c.1953C= (p.Pro651=) c.1923C= (p.Pro641=) c.1440C= (p.Pro480=) c.1335C= (p.Pro445=) | |
| 3 | g.122283877C>G | CA435251988 | CASR | c.1692C>G (p.Pro564=) c.1953C>G (p.Pro651=) c.1923C>G (p.Pro641=) c.1440C>G (p.Pro480=) c.1335C>G (p.Pro445=) | |
| 3 | g.122283877C>T | CA10614603 | CASR | c.1692C>T (p.Pro564=) c.1953C>T (p.Pro651=) c.1923C>T (p.Pro641=) c.1440C>T (p.Pro480=) c.1335C>T (p.Pro445=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283878A= | CA1397871178 | CASR | c.1693A= (p.Ile565=) c.1954A= (p.Ile652=) c.1924A= (p.Ile642=) c.1441A= (p.Ile481=) c.1336A= (p.Ile446=) | |
| 3 | g.122283878A>C | CA354158003 | CASR | c.1693A>C (p.Ile565Leu) c.1954A>C (p.Ile652Leu) c.1924A>C (p.Ile642Leu) c.1441A>C (p.Ile481Leu) c.1336A>C (p.Ile446Leu) | |
| 3 | g.122283878A>G | CA82748626 | CASR | c.1693A>G (p.Ile565Val) c.1954A>G (p.Ile652Val) c.1924A>G (p.Ile642Val) c.1441A>G (p.Ile481Val) c.1336A>G (p.Ile446Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283878A>T | CA354158005 | CASR | c.1693A>T (p.Ile565Phe) c.1954A>T (p.Ile652Phe) c.1924A>T (p.Ile642Phe) c.1441A>T (p.Ile481Phe) c.1336A>T (p.Ile446Phe) | |
| 3 | g.122283879T>A | CA354158009 | CASR | c.1694T>A (p.Ile565Asn) c.1955T>A (p.Ile652Asn) c.1925T>A (p.Ile642Asn) c.1442T>A (p.Ile481Asn) c.1337T>A (p.Ile446Asn) | |
| 3 | g.122283879T>C | CA354158010 | CASR | c.1694T>C (p.Ile565Thr) c.1955T>C (p.Ile652Thr) c.1925T>C (p.Ile642Thr) c.1442T>C (p.Ile481Thr) c.1337T>C (p.Ile446Thr) | ClinVar dbSNP |
| 3 | g.122283879T>G | CA354158012 | CASR | c.1694T>G (p.Ile565Ser) c.1955T>G (p.Ile652Ser) c.1925T>G (p.Ile642Ser) c.1442T>G (p.Ile481Ser) c.1337T>G (p.Ile446Ser) | |
| 3 | g.122283880T>A | CA435251992 | CASR | c.1695T>A (p.Ile565=) c.1956T>A (p.Ile652=) c.1926T>A (p.Ile642=) c.1443T>A (p.Ile481=) c.1338T>A (p.Ile446=) | |
| 3 | g.122283880T>C | CA435251993 | CASR | c.1695T>C (p.Ile565=) c.1956T>C (p.Ile652=) c.1926T>C (p.Ile642=) c.1443T>C (p.Ile481=) c.1338T>C (p.Ile446=) | |
| 3 | g.122283880T>G | CA354158014 | CASR | c.1695T>G (p.Ile565Met) c.1956T>G (p.Ile652Met) c.1926T>G (p.Ile642Met) c.1443T>G (p.Ile481Met) c.1338T>G (p.Ile446Met) |