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 |
|---|---|---|---|---|---|
| X | g.67721832_67721846del | CA2695234349 | AR | c.*667-1_*680del c.2319-1_2332del c.946-1_959del c.2174-1854_2174-1840del (n.2174-1854_2174-1840del) c.723-1_736del c.1749-1_1762del | |
| X | g.67721833_67721835dup | CA2573158998 | AR | c.*667_*669dup (n.*667_*669dup) c.2319_2321dup (p.Tyr774Ter) c.946_948dup (n.946_948dup) c.2174-1853_2174-1851dup (n.2174-1853_2174-1851dup) c.723_725dup (p.Tyr242Ter) c.1749_1751dup (p.Tyr584Ter) | ClinVar dbSNP |
| X | g.67721834T>A | CA413426354 | AR | c.*668T>A (n.*668T>A) c.2320T>A (p.Tyr774Asn) c.947T>A (n.947T>A) c.2174-1852T>A (n.2174-1852T>A) c.724T>A (p.Tyr242Asn) c.1750T>A (p.Tyr584Asn) | dbSNP |
| X | g.67721834T>C | CA413426350 | AR | c.*668T>C (n.*668T>C) c.2320T>C (p.Tyr774His) c.947T>C (n.947T>C) c.2174-1852T>C (n.2174-1852T>C) c.724T>C (p.Tyr242His) c.1750T>C (p.Tyr584His) | |
| X | g.67721834T>G | CA413426349 | AR | c.*668T>G (n.*668T>G) c.2320T>G (p.Tyr774Asp) c.947T>G (n.947T>G) c.2174-1852T>G (n.2174-1852T>G) c.724T>G (p.Tyr242Asp) c.1750T>G (p.Tyr584Asp) | |
| X | g.67721835A>C | CA413426355 | AR | c.*669A>C (n.*669A>C) c.2321A>C (p.Tyr774Ser) c.948A>C (n.948A>C) c.2174-1851A>C (n.2174-1851A>C) c.725A>C (p.Tyr242Ser) c.1751A>C (p.Tyr584Ser) | dbSNP |
| X | g.67721835A>G | CA413426356 | AR | c.*669A>G (n.*669A>G) c.2321A>G (p.Tyr774Cys) c.948A>G (n.948A>G) c.2174-1851A>G (n.2174-1851A>G) c.725A>G (p.Tyr242Cys) c.1751A>G (p.Tyr584Cys) | |
| X | g.67721835A>T | CA413426358 | AR | c.*669A>T (n.*669A>T) c.2321A>T (p.Tyr774Phe) c.948A>T (n.948A>T) c.2174-1851A>T (n.2174-1851A>T) c.725A>T (p.Tyr242Phe) c.1751A>T (p.Tyr584Phe) | dbSNP |
| X | g.67721836C>A | CA413426361 | AR | c.*670C>A (n.*670C>A) c.2322C>A (p.Tyr774Ter) c.949C>A (n.949C>A) c.2174-1850C>A (n.2174-1850C>A) c.726C>A (p.Tyr242Ter) c.1752C>A (p.Tyr584Ter) | |
| X | g.67721836C= | CA2435134323 | AR | c.*670C= (n.*670C=) c.2322C= (p.Tyr774=) c.949C= (n.949C=) c.2174-1850C= (n.2174-1850C=) c.726C= (p.Tyr242=) c.1752C= (p.Tyr584=) | |
| X | g.67721836C>G | CA413426363 | AR | c.*670C>G (n.*670C>G) c.2322C>G (p.Tyr774Ter) c.949C>G (n.949C>G) c.2174-1850C>G (n.2174-1850C>G) c.726C>G (p.Tyr242Ter) c.1752C>G (p.Tyr584Ter) | dbSNP |
| X | g.67721836C>T | CA10436625 | AR | c.*670C>T (n.*670C>T) c.2322C>T (p.Tyr774=) c.949C>T (n.949C>T) c.2174-1850C>T (n.2174-1850C>T) c.726C>T (p.Tyr242=) c.1752C>T (p.Tyr584=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67721837C>A | CA413426366 | AR | c.*671C>A (n.*671C>A) c.2323C>A (p.Arg775Ser) c.950C>A (n.950C>A) c.2174-1849C>A (n.2174-1849C>A) c.727C>A (p.Arg243Ser) c.1753C>A (p.Arg585Ser) | |
| X | g.67721837C= | CA2435134324 | AR | c.*671C= (n.*671C=) c.2323C= (p.Arg775=) c.950C= (n.950C=) c.2174-1849C= (n.2174-1849C=) c.727C= (p.Arg243=) c.1753C= (p.Arg585=) | |
| X | g.67721837C>G | CA413426368 | AR | c.*671C>G (n.*671C>G) c.2323C>G (p.Arg775Gly) c.950C>G (n.950C>G) c.2174-1849C>G (n.2174-1849C>G) c.727C>G (p.Arg243Gly) c.1753C>G (p.Arg585Gly) | dbSNP |
| X | g.67721837C>T | CA120701 | AR | c.*671C>T (n.*671C>T) c.2323C>T (p.Arg775Cys) c.950C>T (n.950C>T) c.2174-1849C>T (n.2174-1849C>T) c.727C>T (p.Arg243Cys) c.1753C>T (p.Arg585Cys) | ClinVar dbSNP |
| X | g.67721838G>A | CA120712 | AR | c.*672G>A (n.*672G>A) c.2324G>A (p.Arg775His) c.951G>A (n.951G>A) c.2174-1848G>A (n.2174-1848G>A) c.728G>A (p.Arg243His) c.1754G>A (p.Arg585His) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.67721838G>C | CA413426374 | AR | c.*672G>C (n.*672G>C) c.2324G>C (p.Arg775Pro) c.951G>C (n.951G>C) c.2174-1848G>C (n.2174-1848G>C) c.728G>C (p.Arg243Pro) c.1754G>C (p.Arg585Pro) | dbSNP |
| X | g.67721838G= | CA2435134325 | AR | c.*672G= (n.*672G=) c.2324G= (p.Arg775=) c.951G= (n.951G=) c.2174-1848G= (n.2174-1848G=) c.728G= (p.Arg243=) c.1754G= (p.Arg585=) | |
| X | g.67721838G>T | CA413426376 | AR | c.*672G>T (n.*672G>T) c.2324G>T (p.Arg775Leu) c.951G>T (n.951G>T) c.2174-1848G>T (n.2174-1848G>T) c.728G>T (p.Arg243Leu) c.1754G>T (p.Arg585Leu) | dbSNP |
| X | g.67721839C>A | CA516970591 | AR | c.*673C>A (n.*673C>A) c.2325C>A (p.Arg775=) c.952C>A (n.952C>A) c.2174-1847C>A (n.2174-1847C>A) c.729C>A (p.Arg243=) c.1755C>A (p.Arg585=) | dbSNP |
| X | g.67721839C= | CA2435134326 | AR | c.*673C= (n.*673C=) c.2325C= (p.Arg775=) c.952C= (n.952C=) c.2174-1847C= (n.2174-1847C=) c.729C= (p.Arg243=) c.1755C= (p.Arg585=) | |
| X | g.67721839C>G | CA516970594 | AR | c.*673C>G (n.*673C>G) c.2325C>G (p.Arg775=) c.952C>G (n.952C>G) c.2174-1847C>G (n.2174-1847C>G) c.729C>G (p.Arg243=) c.1755C>G (p.Arg585=) | dbSNP |
| X | g.67721839C>T | CA516970593 | AR | c.*673C>T (n.*673C>T) c.2325C>T (p.Arg775=) c.952C>T (n.952C>T) c.2174-1847C>T (n.2174-1847C>T) c.729C>T (p.Arg243=) c.1755C>T (p.Arg585=) | dbSNP |
| X | g.67721840A>C | CA413426382 | AR | c.*674A>C (n.*674A>C) c.2326A>C (p.Met776Leu) c.953A>C (n.953A>C) c.2174-1846A>C (n.2174-1846A>C) c.730A>C (p.Met244Leu) c.1756A>C (p.Met586Leu) | |
| X | g.67721840A>G | CA413426380 | AR | c.*674A>G (n.*674A>G) c.2326A>G (p.Met776Val) c.953A>G (n.953A>G) c.2174-1846A>G (n.2174-1846A>G) c.730A>G (p.Met244Val) c.1756A>G (p.Met586Val) | |
| X | g.67721840A>T | CA413426379 | AR | c.*674A>T (n.*674A>T) c.2326A>T (p.Met776Leu) c.953A>T (n.953A>T) c.2174-1846A>T (n.2174-1846A>T) c.730A>T (p.Met244Leu) c.1756A>T (p.Met586Leu) | dbSNP |
| X | g.67721841T>A | CA413426385 | AR | c.*675T>A (n.*675T>A) c.2327T>A (p.Met776Lys) c.954T>A (n.954T>A) c.2174-1845T>A (n.2174-1845T>A) c.731T>A (p.Met244Lys) c.1757T>A (p.Met586Lys) | dbSNP |
| X | g.67721841T>C | CA413426388 | AR | c.*675T>C (n.*675T>C) c.2327T>C (p.Met776Thr) c.954T>C (n.954T>C) c.2174-1845T>C (n.2174-1845T>C) c.731T>C (p.Met244Thr) c.1757T>C (p.Met586Thr) | ClinVar dbSNP |
| X | g.67721841T>G | CA413426390 | AR | c.*675T>G (n.*675T>G) c.2327T>G (p.Met776Arg) c.954T>G (n.954T>G) c.2174-1845T>G (n.2174-1845T>G) c.731T>G (p.Met244Arg) c.1757T>G (p.Met586Arg) | |
| X | g.67721842G>A | CA413426392 | AR | c.*676G>A (n.*676G>A) c.2328G>A (p.Met776Ile) c.955G>A (n.955G>A) c.2174-1844G>A (n.2174-1844G>A) c.732G>A (p.Met244Ile) c.1758G>A (p.Met586Ile) | dbSNP |
| X | g.67721842G>C | CA413426394 | AR | c.*676G>C (n.*676G>C) c.2328G>C (p.Met776Ile) c.955G>C (n.955G>C) c.2174-1844G>C (n.2174-1844G>C) c.732G>C (p.Met244Ile) c.1758G>C (p.Met586Ile) | dbSNP |
| X | g.67721842G>T | CA413426396 | AR | c.*676G>T (n.*676G>T) c.2328G>T (p.Met776Ile) c.955G>T (n.955G>T) c.2174-1844G>T (n.2174-1844G>T) c.732G>T (p.Met244Ile) c.1758G>T (p.Met586Ile) | |
| X | g.67721843C>A | CA413426403 | AR | c.*677C>A (n.*677C>A) c.2329C>A (p.His777Asn) c.956C>A (n.956C>A) c.2174-1843C>A (n.2174-1843C>A) c.733C>A (p.His245Asn) c.1759C>A (p.His587Asn) | |
| X | g.67721843C>G | CA413426399 | AR | c.*677C>G (n.*677C>G) c.2329C>G (p.His777Asp) c.956C>G (n.956C>G) c.2174-1843C>G (n.2174-1843C>G) c.733C>G (p.His245Asp) c.1759C>G (p.His587Asp) | dbSNP |
| X | g.67721843C>T | CA413426401 | AR | c.*677C>T (n.*677C>T) c.2329C>T (p.His777Tyr) c.956C>T (n.956C>T) c.2174-1843C>T (n.2174-1843C>T) c.733C>T (p.His245Tyr) c.1759C>T (p.His587Tyr) | dbSNP |
| X | g.67721844A>C | CA413426405 | AR | c.*678A>C (n.*678A>C) c.2330A>C (p.His777Pro) c.957A>C (n.957A>C) c.2174-1842A>C (n.2174-1842A>C) c.734A>C (p.His245Pro) c.1760A>C (p.His587Pro) | dbSNP |
| X | g.67721844A>G | CA413426407 | AR | c.*678A>G (n.*678A>G) c.2330A>G (p.His777Arg) c.957A>G (n.957A>G) c.2174-1842A>G (n.2174-1842A>G) c.734A>G (p.His245Arg) c.1760A>G (p.His587Arg) | |
| X | g.67721844A>T | CA413426408 | AR | c.*678A>T (n.*678A>T) c.2330A>T (p.His777Leu) c.957A>T (n.957A>T) c.2174-1842A>T (n.2174-1842A>T) c.734A>T (p.His245Leu) c.1760A>T (p.His587Leu) | dbSNP |
| X | g.67721845C>A | CA413426411 | AR | c.*679C>A (n.*679C>A) c.2331C>A (p.His777Gln) c.958C>A (n.958C>A) c.2174-1841C>A (n.2174-1841C>A) c.735C>A (p.His245Gln) c.1761C>A (p.His587Gln) | gnomAD v4 |
| X | g.67721845C= | CA2435134327 | AR | c.*679C= (n.*679C=) c.2331C= (p.His777=) c.958C= (n.958C=) c.2174-1841C= (n.2174-1841C=) c.735C= (p.His245=) c.1761C= (p.His587=) | |
| X | g.67721845C>G | CA413426412 | AR | c.*679C>G (n.*679C>G) c.2331C>G (p.His777Gln) c.958C>G (n.958C>G) c.2174-1841C>G (n.2174-1841C>G) c.735C>G (p.His245Gln) c.1761C>G (p.His587Gln) | dbSNP |
| X | g.67721845C>T | CA516970616 | AR | c.*679C>T (n.*679C>T) c.2331C>T (p.His777=) c.958C>T (n.958C>T) c.2174-1841C>T (n.2174-1841C>T) c.735C>T (p.His245=) c.1761C>T (p.His587=) | dbSNP |
| X | g.67721846A>C | CA413426416 | AR | c.*680A>C (n.*680A>C) c.2332A>C (p.Lys778Gln) c.959A>C (n.959A>C) c.2174-1840A>C (n.2174-1840A>C) c.736A>C (p.Lys246Gln) c.1762A>C (p.Lys588Gln) | |
| X | g.67721846A>G | CA413426419 | AR | c.*680A>G (n.*680A>G) c.2332A>G (p.Lys778Glu) c.959A>G (n.959A>G) c.2174-1840A>G (n.2174-1840A>G) c.736A>G (p.Lys246Glu) c.1762A>G (p.Lys588Glu) | dbSNP |
| X | g.67721846A>T | CA413426418 | AR | c.*680A>T (n.*680A>T) c.2332A>T (p.Lys778Ter) c.959A>T (n.959A>T) c.2174-1840A>T (n.2174-1840A>T) c.736A>T (p.Lys246Ter) c.1762A>T (p.Lys588Ter) | |
| X | g.67721847A>C | CA413426420 | AR | c.*681A>C (n.*681A>C) c.2333A>C (p.Lys778Thr) c.960A>C (n.960A>C) c.2174-1839A>C (n.2174-1839A>C) c.737A>C (p.Lys246Thr) c.1763A>C (p.Lys588Thr) | COSMIC COSMIC COSMIC |
| X | g.67721847A>G | CA413426421 | AR | c.*681A>G (n.*681A>G) c.2333A>G (p.Lys778Arg) c.960A>G (n.960A>G) c.2174-1839A>G (n.2174-1839A>G) c.737A>G (p.Lys246Arg) c.1763A>G (p.Lys588Arg) | COSMIC COSMIC COSMIC |
| X | g.67721847A>T | CA413426423 | AR | c.*681A>T (n.*681A>T) c.2333A>T (p.Lys778Met) c.960A>T (n.960A>T) c.2174-1839A>T (n.2174-1839A>T) c.737A>T (p.Lys246Met) c.1763A>T (p.Lys588Met) | |
| X | g.67721848G>A | CA516970626 | AR | c.*682G>A (n.*682G>A) c.2334G>A (p.Lys778=) c.961G>A (n.961G>A) c.2174-1838G>A (n.2174-1838G>A) c.738G>A (p.Lys246=) c.1764G>A (p.Lys588=) | dbSNP |