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.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 |
| X | g.67721848G>C | CA413426426 | AR | c.*682G>C (n.*682G>C) c.2334G>C (p.Lys778Asn) c.961G>C (n.961G>C) c.2174-1838G>C (n.2174-1838G>C) c.738G>C (p.Lys246Asn) c.1764G>C (p.Lys588Asn) | dbSNP |
| X | g.67721848G= | CA2435134328 | AR | c.*682G= (n.*682G=) c.2334G= (p.Lys778=) c.961G= (n.961G=) c.2174-1838G= (n.2174-1838G=) c.738G= (p.Lys246=) c.1764G= (p.Lys588=) | |
| X | g.67721848G>T | CA413426428 | AR | c.*682G>T (n.*682G>T) c.2334G>T (p.Lys778Asn) c.961G>T (n.961G>T) c.2174-1838G>T (n.2174-1838G>T) c.738G>T (p.Lys246Asn) c.1764G>T (p.Lys588Asn) | ClinVar dbSNP |
| X | g.67721849T>A | CA413426432 | AR | c.*683T>A (n.*683T>A) c.2335T>A (p.Ser779Thr) c.962T>A (n.962T>A) c.2174-1837T>A (n.2174-1837T>A) c.739T>A (p.Ser247Thr) c.1765T>A (p.Ser589Thr) | |
| X | g.67721849T>C | CA413426433 | AR | c.*683T>C (n.*683T>C) c.2335T>C (p.Ser779Pro) c.962T>C (n.962T>C) c.2174-1837T>C (n.2174-1837T>C) c.739T>C (p.Ser247Pro) c.1765T>C (p.Ser589Pro) | |
| X | g.67721849T>G | CA413426435 | AR | c.*683T>G (n.*683T>G) c.2335T>G (p.Ser779Ala) c.962T>G (n.962T>G) c.2174-1837T>G (n.2174-1837T>G) c.739T>G (p.Ser247Ala) c.1765T>G (p.Ser589Ala) | |
| X | g.67721850C>A | CA413426438 | AR | c.*684C>A (n.*684C>A) c.2336C>A (p.Ser779Tyr) c.963C>A (n.963C>A) c.2174-1836C>A (n.2174-1836C>A) c.740C>A (p.Ser247Tyr) c.1766C>A (p.Ser589Tyr) | dbSNP |
| X | g.67721850C>G | CA413426439 | AR | c.*684C>G (n.*684C>G) c.2336C>G (p.Ser779Cys) c.963C>G (n.963C>G) c.2174-1836C>G (n.2174-1836C>G) c.740C>G (p.Ser247Cys) c.1766C>G (p.Ser589Cys) | dbSNP |
| X | g.67721850C>T | CA413426442 | AR | c.*684C>T (n.*684C>T) c.2336C>T (p.Ser779Phe) c.963C>T (n.963C>T) c.2174-1836C>T (n.2174-1836C>T) c.740C>T (p.Ser247Phe) c.1766C>T (p.Ser589Phe) | dbSNP |
| X | g.67721851C>A | CA516970636 | AR | c.*685C>A (n.*685C>A) c.2337C>A (p.Ser779=) c.964C>A (n.964C>A) c.2174-1835C>A (n.2174-1835C>A) c.741C>A (p.Ser247=) c.1767C>A (p.Ser589=) | dbSNP |
| X | g.67721851C= | CA2435134329 | AR | c.*685C= (n.*685C=) c.2337C= (p.Ser779=) c.964C= (n.964C=) c.2174-1835C= (n.2174-1835C=) c.741C= (p.Ser247=) c.1767C= (p.Ser589=) | |
| X | g.67721851C>G | CA516970637 | AR | c.*685C>G (n.*685C>G) c.2337C>G (p.Ser779=) c.964C>G (n.964C>G) c.2174-1835C>G (n.2174-1835C>G) c.741C>G (p.Ser247=) c.1767C>G (p.Ser589=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.67721851C>T | CA516970638 | AR | c.*685C>T (n.*685C>T) c.2337C>T (p.Ser779=) c.964C>T (n.964C>T) c.2174-1835C>T (n.2174-1835C>T) c.741C>T (p.Ser247=) c.1767C>T (p.Ser589=) | dbSNP gnomAD v4 |
| X | g.67721852C>A | CA516970640 | AR | c.*686C>A (n.*686C>A) c.2338C>A (p.Arg780=) c.965C>A (n.965C>A) c.2174-1834C>A (n.2174-1834C>A) c.742C>A (p.Arg248=) c.1768C>A (p.Arg590=) | dbSNP |
| X | g.67721852C= | CA2435134330 | AR | c.*686C= (n.*686C=) c.2338C= (p.Arg780=) c.965C= (n.965C=) c.2174-1834C= (n.2174-1834C=) c.742C= (p.Arg248=) c.1768C= (p.Arg590=) | |
| X | g.67721852C>G | CA413426445 | AR | c.*686C>G (n.*686C>G) c.2338C>G (p.Arg780Gly) c.965C>G (n.965C>G) c.2174-1834C>G (n.2174-1834C>G) c.742C>G (p.Arg248Gly) c.1768C>G (p.Arg590Gly) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67721852C>T | CA413426446 | AR | c.*686C>T (n.*686C>T) c.2338C>T (p.Arg780Trp) c.965C>T (n.965C>T) c.2174-1834C>T (n.2174-1834C>T) c.742C>T (p.Arg248Trp) c.1768C>T (p.Arg590Trp) | ClinVar dbSNP gnomAD v4 |
| X | g.67721853G>A | CA10436626 | AR | c.*687G>A (n.*687G>A) c.2339G>A (p.Arg780Gln) c.966G>A (n.966G>A) c.2174-1833G>A (n.2174-1833G>A) c.743G>A (p.Arg248Gln) c.1769G>A (p.Arg590Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.67721853G>C | CA413426453 | AR | c.*687G>C (n.*687G>C) c.2339G>C (p.Arg780Pro) c.966G>C (n.966G>C) c.2174-1833G>C (n.2174-1833G>C) c.743G>C (p.Arg248Pro) c.1769G>C (p.Arg590Pro) | ClinVar dbSNP |
| X | g.67721853G= | CA2435134331 | AR | c.*687G= (n.*687G=) c.2339G= (p.Arg780=) c.966G= (n.966G=) c.2174-1833G= (n.2174-1833G=) c.743G= (p.Arg248=) c.1769G= (p.Arg590=) | |
| X | g.67721853G>T | CA413426450 | AR | c.*687G>T (n.*687G>T) c.2339G>T (p.Arg780Leu) c.966G>T (n.966G>T) c.2174-1833G>T (n.2174-1833G>T) c.743G>T (p.Arg248Leu) c.1769G>T (p.Arg590Leu) | |
| X | g.67721854G>A | CA516970657 | AR | c.*688G>A (n.*688G>A) c.2340G>A (p.Arg780=) c.967G>A (n.967G>A) c.2174-1832G>A (n.2174-1832G>A) c.744G>A (p.Arg248=) c.1770G>A (p.Arg590=) | dbSNP |
| X | g.67721854G>C | CA516970656 | AR | c.*688G>C (n.*688G>C) c.2340G>C (p.Arg780=) c.967G>C (n.967G>C) c.2174-1832G>C (n.2174-1832G>C) c.744G>C (p.Arg248=) c.1770G>C (p.Arg590=) | dbSNP |
| X | g.67721854G= | CA2435134332 | AR | c.*688G= (n.*688G=) c.2340G= (p.Arg780=) c.967G= (n.967G=) c.2174-1832G= (n.2174-1832G=) c.744G= (p.Arg248=) c.1770G= (p.Arg590=) | |
| X | g.67721854G>T | CA516970654 | AR | c.*688G>T (n.*688G>T) c.2340G>T (p.Arg780=) c.967G>T (n.967G>T) c.2174-1832G>T (n.2174-1832G>T) c.744G>T (p.Arg248=) c.1770G>T (p.Arg590=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67721855A>C | CA413426456 | AR | c.*689A>C (n.*689A>C) c.2341A>C (p.Met781Leu) c.968A>C (n.968A>C) c.2174-1831A>C (n.2174-1831A>C) c.745A>C (p.Met249Leu) c.1771A>C (p.Met591Leu) |