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.67721944_67721948del | CA2579630637 | AR | c.*778_*782del (n.*778_*782del) c.2430_2434del (p.Leu811ThrfsTer17) c.1057_1061del (n.1057_1061del) c.2174-1742_2174-1738del (n.2174-1742_2174-1738del) c.834_838del (p.Leu279ThrfsTer17) c.1860_1864del (p.Leu621ThrfsTer5) | |
| X | g.67721947G>A | CA516970990 | AR | c.*781G>A (n.*781G>A) c.2433G>A (p.Leu811=) c.1060G>A (n.1060G>A) c.2174-1739G>A (n.2174-1739G>A) c.837G>A (p.Leu279=) c.1863G>A (p.Leu621=) | dbSNP |
| X | g.67721947G>C | CA516970991 | AR | c.*781G>C (n.*781G>C) c.2433G>C (p.Leu811=) c.1060G>C (n.1060G>C) c.2174-1739G>C (n.2174-1739G>C) c.837G>C (p.Leu279=) c.1863G>C (p.Leu621=) | dbSNP |
| X | g.67721947G>T | CA516970992 | AR | c.*781G>T (n.*781G>T) c.2433G>T (p.Leu811=) c.1060G>T (n.1060G>T) c.2174-1739G>T (n.2174-1739G>T) c.837G>T (p.Leu279=) c.1863G>T (p.Leu621=) | |
| X | g.67721948C>A | CA413427048 | AR | c.*782C>A (n.*782C>A) c.2434C>A (p.Leu812Ile) c.1061C>A (n.1061C>A) c.2174-1738C>A (n.2174-1738C>A) c.838C>A (p.Leu280Ile) c.1864C>A (p.Leu622Ile) | |
| X | g.67721948C>G | CA413427050 | AR | c.*782C>G (n.*782C>G) c.2434C>G (p.Leu812Val) c.1061C>G (n.1061C>G) c.2174-1738C>G (n.2174-1738C>G) c.838C>G (p.Leu280Val) c.1864C>G (p.Leu622Val) | dbSNP |
| X | g.67721948C>T | CA516970993 | AR | c.*782C>T (n.*782C>T) c.2434C>T (p.Leu812=) c.1061C>T (n.1061C>T) c.2174-1738C>T (n.2174-1738C>T) c.838C>T (p.Leu280=) c.1864C>T (p.Leu622=) | dbSNP |
| X | g.67721949T>A | CA413427054 | AR | c.*783T>A (n.*783T>A) c.2435T>A (p.Leu812Gln) c.1062T>A (n.1062T>A) c.2174-1737T>A (n.2174-1737T>A) c.839T>A (p.Leu280Gln) c.1865T>A (p.Leu622Gln) | dbSNP |
| X | g.67721949T>C | CA413427056 | AR | c.*783T>C (n.*783T>C) c.2435T>C (p.Leu812Pro) c.1062T>C (n.1062T>C) c.2174-1737T>C (n.2174-1737T>C) c.839T>C (p.Leu280Pro) c.1865T>C (p.Leu622Pro) | dbSNP |
| X | g.67721949T>G | CA413427059 | AR | c.*783T>G (n.*783T>G) c.2435T>G (p.Leu812Arg) c.1062T>G (n.1062T>G) c.2174-1737T>G (n.2174-1737T>G) c.839T>G (p.Leu280Arg) c.1865T>G (p.Leu622Arg) | |
| X | g.67721950A= | CA2435134358 | AR | c.*784A= (n.*784A=) c.2436A= (p.Leu812=) c.1063A= (n.1063A=) c.2174-1736A= (n.2174-1736A=) c.840A= (p.Leu280=) c.1866A= (p.Leu622=) | |
| X | g.67721950A>C | CA516970998 | AR | c.*784A>C (n.*784A>C) c.2436A>C (p.Leu812=) c.1063A>C (n.1063A>C) c.2174-1736A>C (n.2174-1736A>C) c.840A>C (p.Leu280=) c.1866A>C (p.Leu622=) | dbSNP |
| X | g.67721950A>G | CA10436633 | AR | c.*784A>G (n.*784A>G) c.2436A>G (p.Leu812=) c.1063A>G (n.1063A>G) c.2174-1736A>G (n.2174-1736A>G) c.840A>G (p.Leu280=) c.1866A>G (p.Leu622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67721950A>T | CA516971001 | AR | c.*784A>T (n.*784A>T) c.2436A>T (p.Leu812=) c.1063A>T (n.1063A>T) c.2174-1736A>T (n.2174-1736A>T) c.840A>T (p.Leu280=) c.1866A>T (p.Leu622=) | dbSNP |
| X | g.67721951C>A | CA413427064 | AR | c.*785C>A (n.*785C>A) c.2437C>A (p.Leu813Ile) c.1064C>A (n.1064C>A) c.2174-1735C>A (n.2174-1735C>A) c.841C>A (p.Leu281Ile) c.1867C>A (p.Leu623Ile) | dbSNP |
| X | g.67721951C= | CA2435134359 | AR | c.*785C= (n.*785C=) c.2437C= (p.Leu813=) c.1064C= (n.1064C=) c.2174-1735C= (n.2174-1735C=) c.841C= (p.Leu281=) c.1867C= (p.Leu623=) | |
| X | g.67721951C>G | CA413427069 | AR | c.*785C>G (n.*785C>G) c.2437C>G (p.Leu813Val) c.1064C>G (n.1064C>G) c.2174-1735C>G (n.2174-1735C>G) c.841C>G (p.Leu281Val) c.1867C>G (p.Leu623Val) | dbSNP |
| X | g.67721951C>T | CA413427066 | AR | c.*785C>T (n.*785C>T) c.2437C>T (p.Leu813Phe) c.1064C>T (n.1064C>T) c.2174-1735C>T (n.2174-1735C>T) c.841C>T (p.Leu281Phe) c.1867C>T (p.Leu623Phe) | ClinVar dbSNP |
| X | g.67721952T>A | CA413427073 | AR | c.*786T>A (n.*786T>A) c.2438T>A (p.Leu813His) c.1065T>A (n.1065T>A) c.2174-1734T>A (n.2174-1734T>A) c.842T>A (p.Leu281His) c.1868T>A (p.Leu623His) | dbSNP |
| X | g.67721952T>C | CA413427075 | AR | c.*786T>C (n.*786T>C) c.2438T>C (p.Leu813Pro) c.1065T>C (n.1065T>C) c.2174-1734T>C (n.2174-1734T>C) c.842T>C (p.Leu281Pro) c.1868T>C (p.Leu623Pro) | ClinVar dbSNP |
| X | g.67721952T>G | CA413427077 | AR | c.*786T>G (n.*786T>G) c.2438T>G (p.Leu813Arg) c.1065T>G (n.1065T>G) c.2174-1734T>G (n.2174-1734T>G) c.842T>G (p.Leu281Arg) c.1868T>G (p.Leu623Arg) | |
| X | g.67721952T= | CA2435134360 | AR | c.*786T= (n.*786T=) c.2438T= (p.Leu813=) c.1065T= (n.1065T=) c.2174-1734T= (n.2174-1734T=) c.842T= (p.Leu281=) c.1868T= (p.Leu623=) | |
| X | g.67721953C>A | CA330772232 | AR | c.*787C>A (n.*787C>A) c.2439C>A (p.Leu813=) c.1066C>A (n.1066C>A) c.2174-1733C>A (n.2174-1733C>A) c.843C>A (p.Leu281=) c.1869C>A (p.Leu623=) | dbSNP |
| X | g.67721953C= | CA2435134361 | AR | c.*787C= (n.*787C=) c.2439C= (p.Leu813=) c.1066C= (n.1066C=) c.2174-1733C= (n.2174-1733C=) c.843C= (p.Leu281=) c.1869C= (p.Leu623=) | |
| X | g.67721953C>G | CA10436634 | AR | c.*787C>G (n.*787C>G) c.2439C>G (p.Leu813=) c.1066C>G (n.1066C>G) c.2174-1733C>G (n.2174-1733C>G) c.843C>G (p.Leu281=) c.1869C>G (p.Leu623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67721953C>T | CA516971014 | AR | c.*787C>T (n.*787C>T) c.2439C>T (p.Leu813=) c.1066C>T (n.1066C>T) c.2174-1733C>T (n.2174-1733C>T) c.843C>T (p.Leu281=) c.1869C>T (p.Leu623=) | ClinVar dbSNP |
| X | g.67721954T>A | CA413427081 | AR | c.*788T>A (n.*788T>A) c.2440T>A (p.Phe814Ile) c.1067T>A (n.1067T>A) c.2174-1732T>A (n.2174-1732T>A) c.844T>A (p.Phe282Ile) c.1870T>A (p.Phe624Ile) | dbSNP |
| X | g.67721954T>C | CA413427083 | AR | c.*788T>C (n.*788T>C) c.2440T>C (p.Phe814Leu) c.1067T>C (n.1067T>C) c.2174-1732T>C (n.2174-1732T>C) c.844T>C (p.Phe282Leu) c.1870T>C (p.Phe624Leu) | dbSNP gnomAD v4 |
| X | g.67721954T>G | CA413427086 | AR | c.*788T>G (n.*788T>G) c.2440T>G (p.Phe814Val) c.1067T>G (n.1067T>G) c.2174-1732T>G (n.2174-1732T>G) c.844T>G (p.Phe282Val) c.1870T>G (p.Phe624Val) | dbSNP COSMIC COSMIC |
| X | g.67721954_67721955del | CA2695234372 | AR | c.*788_*789del (n.*788_*789del) c.2440_2441del (p.Phe814GlnfsTer15) c.1067_1068del (n.1067_1068del) c.2174-1732_2174-1731del (n.2174-1732_2174-1731del) c.844_845del (p.Phe282GlnfsTer15) c.1870_1871del (p.Phe624GlnfsTer3) | |
| X | g.67721955del | CA2739290501 | AR | c.*789del (n.*789del) c.2441del (p.Phe814SerfsTer9) c.1068del (n.1068del) c.2174-1731del (n.2174-1731del) c.845del (p.Phe282SerfsTer9) c.1871del (p.Phe624SerfsTer16) | |
| X | g.67721955T>A | CA413427089 | AR | c.*789T>A (n.*789T>A) c.2441T>A (p.Phe814Tyr) c.1068T>A (n.1068T>A) c.2174-1731T>A (n.2174-1731T>A) c.845T>A (p.Phe282Tyr) c.1871T>A (p.Phe624Tyr) | dbSNP |
| X | g.67721955T>C | CA413427092 | AR | c.*789T>C (n.*789T>C) c.2441T>C (p.Phe814Ser) c.1068T>C (n.1068T>C) c.2174-1731T>C (n.2174-1731T>C) c.845T>C (p.Phe282Ser) c.1871T>C (p.Phe624Ser) | |
| X | g.67721955T>G | CA413427094 | AR | c.*789T>G (n.*789T>G) c.2441T>G (p.Phe814Cys) c.1068T>G (n.1068T>G) c.2174-1731T>G (n.2174-1731T>G) c.845T>G (p.Phe282Cys) c.1871T>G (p.Phe624Cys) | |
| X | g.67721956C>A | CA413427098 | AR | c.*790C>A (n.*790C>A) c.2442C>A (p.Phe814Leu) c.1069C>A (n.1069C>A) c.2174-1730C>A (n.2174-1730C>A) c.846C>A (p.Phe282Leu) c.1872C>A (p.Phe624Leu) | dbSNP |
| X | g.67721956C>G | CA413427101 | AR | c.*790C>G (n.*790C>G) c.2442C>G (p.Phe814Leu) c.1069C>G (n.1069C>G) c.2174-1730C>G (n.2174-1730C>G) c.846C>G (p.Phe282Leu) c.1872C>G (p.Phe624Leu) | dbSNP |
| X | g.67721956C>T | CA516971023 | AR | c.*790C>T (n.*790C>T) c.2442C>T (p.Phe814=) c.1069C>T (n.1069C>T) c.2174-1730C>T (n.2174-1730C>T) c.846C>T (p.Phe282=) c.1872C>T (p.Phe624=) | dbSNP COSMIC COSMIC |
| X | g.67721957A>C | CA413427105 | AR | c.*791A>C (n.*791A>C) c.2443A>C (p.Ser815Arg) c.1070A>C (n.1070A>C) c.2174-1729A>C (n.2174-1729A>C) c.847A>C (p.Ser283Arg) c.1873A>C (p.Ser625Arg) | |
| X | g.67721957A>G | CA413427109 | AR | c.*791A>G (n.*791A>G) c.2443A>G (p.Ser815Gly) c.1070A>G (n.1070A>G) c.2174-1729A>G (n.2174-1729A>G) c.847A>G (p.Ser283Gly) c.1873A>G (p.Ser625Gly) | |
| X | g.67721957A>T | CA413427106 | AR | c.*791A>T (n.*791A>T) c.2443A>T (p.Ser815Cys) c.1070A>T (n.1070A>T) c.2174-1729A>T (n.2174-1729A>T) c.847A>T (p.Ser283Cys) c.1873A>T (p.Ser625Cys) | dbSNP |
| X | g.67721958G>A | CA413427114 | AR | c.*792G>A (n.*792G>A) c.2444G>A (p.Ser815Asn) c.1071G>A (n.1071G>A) c.2174-1728G>A (n.2174-1728G>A) c.848G>A (p.Ser283Asn) c.1874G>A (p.Ser625Asn) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.67721958G>C | CA413427115 | AR | c.*792G>C (n.*792G>C) c.2444G>C (p.Ser815Thr) c.1071G>C (n.1071G>C) c.2174-1728G>C (n.2174-1728G>C) c.848G>C (p.Ser283Thr) c.1874G>C (p.Ser625Thr) | dbSNP |
| X | g.67721958G>T | CA413427118 | AR | c.*792G>T (n.*792G>T) c.2444G>T (p.Ser815Ile) c.1071G>T (n.1071G>T) c.2174-1728G>T (n.2174-1728G>T) c.848G>T (p.Ser283Ile) c.1874G>T (p.Ser625Ile) | |
| X | g.67721959C>A | CA413427122 | AR | c.*793C>A (n.*793C>A) c.2445C>A (p.Ser815Arg) c.1072C>A (n.1072C>A) c.2174-1727C>A (n.2174-1727C>A) c.849C>A (p.Ser283Arg) c.1875C>A (p.Ser625Arg) | |
| X | g.67721959C>G | CA413427124 | AR | c.*793C>G (n.*793C>G) c.2445C>G (p.Ser815Arg) c.1072C>G (n.1072C>G) c.2174-1727C>G (n.2174-1727C>G) c.849C>G (p.Ser283Arg) c.1875C>G (p.Ser625Arg) | dbSNP |
| X | g.67721959C>T | CA516971036 | AR | c.*793C>T (n.*793C>T) c.2445C>T (p.Ser815=) c.1072C>T (n.1072C>T) c.2174-1727C>T (n.2174-1727C>T) c.849C>T (p.Ser283=) c.1875C>T (p.Ser625=) | dbSNP |
| X | g.67721960A>C | CA413427125 | AR | c.*794A>C (n.*794A>C) c.2446A>C (p.Ile816Leu) c.1073A>C (n.1073A>C) c.2174-1726A>C (n.2174-1726A>C) c.850A>C (p.Ile284Leu) c.1876A>C (p.Ile626Leu) | |
| X | g.67721960A>G | CA413427126 | AR | c.*794A>G (n.*794A>G) c.2446A>G (p.Ile816Val) c.1073A>G (n.1073A>G) c.2174-1726A>G (n.2174-1726A>G) c.850A>G (p.Ile284Val) c.1876A>G (p.Ile626Val) | |
| X | g.67721960A>T | CA413427128 | AR | c.*794A>T (n.*794A>T) c.2446A>T (p.Ile816Phe) c.1073A>T (n.1073A>T) c.2174-1726A>T (n.2174-1726A>T) c.850A>T (p.Ile284Phe) c.1876A>T (p.Ile626Phe) | |
| X | g.67721961T>A | CA413427130 | AR | c.*795T>A (n.*795T>A) c.2447T>A (p.Ile816Asn) c.1074T>A (n.1074T>A) c.2174-1725T>A (n.2174-1725T>A) c.851T>A (p.Ile284Asn) c.1877T>A (p.Ile626Asn) | dbSNP |