WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.25812768dup | CA2506364146 | SELENON | c.1192dup (p.Ala398GlyfsTer4) c.1261dup (p.Ala421GlyfsTer4) c.1363dup (p.Ala455GlyfsTer4) n.41dup n.255+889dup c.-210dup (n.-210dup) | dbSNP |
| 1 | g.25812767_25812768dup | CA2742889995 | SELENON | c.1191_1192dup (p.Ala398GlyfsTer?) c.1260_1261dup (p.Ala421GlyfsTer16) c.1362_1363dup (p.Ala455GlyfsTer?) c.1260_1261dup (p.Ala421GlyfsTer?) n.40_41dup n.255+888_255+889dup c.-211_-210dup (n.-211_-210dup) | |
| 1 | g.25812768del | CA645513027 | SELENON | c.1192del (p.Ala398ProfsTer?) c.1261del (p.Ala421ProfsTer15) c.1363del (p.Ala455ProfsTer?) c.1261del (p.Ala421ProfsTer?) n.41del n.255+889del c.-210del (n.-210del) | gnomAD v4 COSMIC COSMIC |
| 1 | g.25812764G>A | CA339117826 | SELENON | c.1188G>A (p.Trp396Ter) c.1257G>A (p.Trp419Ter) c.1359G>A (p.Trp453Ter) n.37G>A n.255+885G>A c.-214G>A (n.-214G>A) | gnomAD v4 |
| 1 | g.25812764G>C | CA16042386 | SELENON | c.1188G>C (p.Trp396Cys) c.1257G>C (p.Trp419Cys) c.1359G>C (p.Trp453Cys) n.37G>C n.255+885G>C c.-214G>C (n.-214G>C) | ClinVar dbSNP |
| 1 | g.25812764G= | CA1159807890 | SELENON | c.1188G= (p.Trp396=) c.1257G= (p.Trp419=) c.1359G= (p.Trp453=) n.37G= n.255+885G= c.-214G= (n.-214G=) | |
| 1 | g.25812764G>T | CA339117827 | SELENON | c.1188G>T (p.Trp396Cys) c.1257G>T (p.Trp419Cys) c.1359G>T (p.Trp453Cys) n.37G>T n.255+885G>T c.-214G>T (n.-214G>T) | |
| 1 | g.25812765G>A | CA339117828 | SELENON | c.1189G>A (p.Gly397Arg) c.1258G>A (p.Gly420Arg) c.1360G>A (p.Gly454Arg) n.38G>A n.255+886G>A c.-213G>A (n.-213G>A) | |
| 1 | g.25812765G>C | CA339117829 | SELENON | c.1189G>C (p.Gly397Arg) c.1258G>C (p.Gly420Arg) c.1360G>C (p.Gly454Arg) n.38G>C n.255+886G>C c.-213G>C (n.-213G>C) | |
| 1 | g.25812765G>T | CA339117830 | SELENON | c.1189G>T (p.Gly397Trp) c.1258G>T (p.Gly420Trp) c.1360G>T (p.Gly454Trp) n.38G>T n.255+886G>T c.-213G>T (n.-213G>T) | |
| 1 | g.25812765_25812766insA | CA2742889996 | SELENON | c.1189_1190insA (p.Gly397GlufsTer5) c.1258_1259insA (p.Gly420GlufsTer5) c.1360_1361insA (p.Gly454GlufsTer5) n.38_39insA n.255+886_255+887insA c.-213_-212insA (n.-213_-212insA) | |
| 1 | g.25812766G>A | CA339117833 | SELENON | c.1190G>A (p.Gly397Glu) c.1259G>A (p.Gly420Glu) c.1361G>A (p.Gly454Glu) n.39G>A n.255+887G>A c.-212G>A (n.-212G>A) | gnomAD v4 |
| 1 | g.25812766G>C | CA339117832 | SELENON | c.1190G>C (p.Gly397Ala) c.1259G>C (p.Gly420Ala) c.1361G>C (p.Gly454Ala) n.39G>C n.255+887G>C c.-212G>C (n.-212G>C) | |
| 1 | g.25812766G>T | CA339117831 | SELENON | c.1190G>T (p.Gly397Val) c.1259G>T (p.Gly420Val) c.1361G>T (p.Gly454Val) n.39G>T n.255+887G>T c.-212G>T (n.-212G>T) | |
| 1 | g.25812767G>A | CA416759304 | SELENON | c.1191G>A (p.Gly397=) c.1260G>A (p.Gly420=) c.1362G>A (p.Gly454=) n.40G>A n.255+888G>A c.-211G>A (n.-211G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.25812767G>C | CA416759305 | SELENON | c.1191G>C (p.Gly397=) c.1260G>C (p.Gly420=) c.1362G>C (p.Gly454=) n.40G>C n.255+888G>C c.-211G>C (n.-211G>C) | dbSNP |
| 1 | g.25812767G= | CA1159807891 | SELENON | c.1191G= (p.Gly397=) c.1260G= (p.Gly420=) c.1362G= (p.Gly454=) n.40G= n.255+888G= c.-211G= (n.-211G=) | |
| 1 | g.25812767G>T | CA416759306 | SELENON | c.1191G>T (p.Gly397=) c.1260G>T (p.Gly420=) c.1362G>T (p.Gly454=) n.40G>T n.255+888G>T c.-211G>T (n.-211G>T) | dbSNP |
| 1 | g.25812768G>A | CA19698938 | SELENON | c.1192G>A (p.Ala398Thr) c.1261G>A (p.Ala421Thr) c.1363G>A (p.Ala455Thr) n.41G>A n.255+889G>A c.-210G>A (n.-210G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.25812768G>C | CA339117834 | SELENON | c.1192G>C (p.Ala398Pro) c.1261G>C (p.Ala421Pro) c.1363G>C (p.Ala455Pro) n.41G>C n.255+889G>C c.-210G>C (n.-210G>C) | dbSNP |
| 1 | g.25812768G= | CA1144010075 | SELENON | c.1192G= (p.Ala398=) c.1261G= (p.Ala421=) c.1363G= (p.Ala455=) n.41G= n.255+889G= c.-210G= (n.-210G=) | |
| 1 | g.25812768G>T | CA696838 | SELENON | c.1192G>T (p.Ala398Ser) c.1261G>T (p.Ala421Ser) c.1363G>T (p.Ala455Ser) n.41G>T n.255+889G>T c.-210G>T (n.-210G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.25812769C>A | CA339117835 | SELENON | c.1193C>A (p.Ala398Asp) c.1262C>A (p.Ala421Asp) c.1364C>A (p.Ala455Asp) n.42C>A n.255+890C>A c.-209C>A (n.-209C>A) | |
| 1 | g.25812769C= | CA1159807892 | SELENON | c.1193C= (p.Ala398=) c.1262C= (p.Ala421=) c.1364C= (p.Ala455=) n.42C= n.255+890C= c.-209C= (n.-209C=) | |
| 1 | g.25812769C>G | CA339117836 | SELENON | c.1193C>G (p.Ala398Gly) c.1262C>G (p.Ala421Gly) c.1364C>G (p.Ala455Gly) n.42C>G n.255+890C>G c.-209C>G (n.-209C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.25812769C>T | CA339117837 | SELENON | c.1193C>T (p.Ala398Val) c.1262C>T (p.Ala421Val) c.1364C>T (p.Ala455Val) n.42C>T n.255+890C>T c.-209C>T (n.-209C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.25812771del | CA2574271373 | SELENON | c.1195del (p.Leu399TrpfsTer?) c.1264del (p.Leu422TrpfsTer14) c.1366del (p.Leu456TrpfsTer?) c.1264del (p.Leu422TrpfsTer?) n.44del n.255+892del c.-207del (n.-207del) | |
| 1 | g.25812770C>A | CA416759310 | SELENON | c.1194C>A (p.Ala398=) c.1263C>A (p.Ala421=) c.1365C>A (p.Ala455=) n.43C>A n.255+891C>A c.-208C>A (n.-208C>A) | |
| 1 | g.25812770C>G | CA416759309 | SELENON | c.1194C>G (p.Ala398=) c.1263C>G (p.Ala421=) c.1365C>G (p.Ala455=) n.43C>G n.255+891C>G c.-208C>G (n.-208C>G) | gnomAD v4 |
| 1 | g.25812770C>T | CA416759308 | SELENON | c.1194C>T (p.Ala398=) c.1263C>T (p.Ala421=) c.1365C>T (p.Ala455=) n.43C>T n.255+891C>T c.-208C>T (n.-208C>T) | gnomAD v4 |
| 1 | g.25812771C>A | CA339117838 | SELENON | c.1195C>A (p.Leu399Met) c.1264C>A (p.Leu422Met) c.1366C>A (p.Leu456Met) n.44C>A n.255+892C>A c.-207C>A (n.-207C>A) | |
| 1 | g.25812771C= | CA1159807893 | SELENON | c.1195C= (p.Leu399=) c.1264C= (p.Leu422=) c.1366C= (p.Leu456=) n.44C= n.255+892C= c.-207C= (n.-207C=) | |
| 1 | g.25812771C>G | CA339117839 | SELENON | c.1195C>G (p.Leu399Val) c.1264C>G (p.Leu422Val) c.1366C>G (p.Leu456Val) n.44C>G n.255+892C>G c.-207C>G (n.-207C>G) | |
| 1 | g.25812771C>T | CA696839 | SELENON | c.1195C>T (p.Leu399=) c.1264C>T (p.Leu422=) c.1366C>T (p.Leu456=) n.44C>T n.255+892C>T c.-207C>T (n.-207C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.25812772T>A | CA339117840 | SELENON | c.1196T>A (p.Leu399Gln) c.1265T>A (p.Leu422Gln) c.1367T>A (p.Leu456Gln) n.45T>A n.255+893T>A c.-206T>A (n.-206T>A) | |
| 1 | g.25812772T>C | CA339117841 | SELENON | c.1196T>C (p.Leu399Pro) c.1265T>C (p.Leu422Pro) c.1367T>C (p.Leu456Pro) n.45T>C n.255+893T>C c.-206T>C (n.-206T>C) | |
| 1 | g.25812772T>G | CA339117842 | SELENON | c.1196T>G (p.Leu399Arg) c.1265T>G (p.Leu422Arg) c.1367T>G (p.Leu456Arg) n.45T>G n.255+893T>G c.-206T>G (n.-206T>G) | ClinVar dbSNP |
| 1 | g.25812772T= | CA1159807894 | SELENON | c.1196T= (p.Leu399=) c.1265T= (p.Leu422=) c.1367T= (p.Leu456=) n.45T= n.255+893T= c.-206T= (n.-206T=) | |
| 1 | g.25812773G>A | CA416759311 | SELENON | c.1197G>A (p.Leu399=) c.1266G>A (p.Leu422=) c.1368G>A (p.Leu456=) n.46G>A n.255+894G>A c.-205G>A (n.-205G>A) | gnomAD v4 |
| 1 | g.25812773G>C | CA416759312 | SELENON | c.1197G>C (p.Leu399=) c.1266G>C (p.Leu422=) c.1368G>C (p.Leu456=) n.46G>C n.255+894G>C c.-205G>C (n.-205G>C) | |
| 1 | g.25812773G>T | CA416759314 | SELENON | c.1197G>T (p.Leu399=) c.1266G>T (p.Leu422=) c.1368G>T (p.Leu456=) n.46G>T n.255+894G>T c.-205G>T (n.-205G>T) | |
| 1 | g.25812774G>A | CA339117843 | SELENON | c.1198G>A (p.Asp400Asn) c.1267G>A (p.Asp423Asn) c.1369G>A (p.Asp457Asn) n.47G>A n.255+895G>A c.-204G>A (n.-204G>A) | |
| 1 | g.25812774G>C | CA339117844 | SELENON | c.1198G>C (p.Asp400His) c.1267G>C (p.Asp423His) c.1369G>C (p.Asp457His) n.47G>C n.255+895G>C c.-204G>C (n.-204G>C) | gnomAD v4 |
| 1 | g.25812774G= | CA1159807895 | SELENON | c.1198G= (p.Asp400=) c.1267G= (p.Asp423=) c.1369G= (p.Asp457=) n.47G= n.255+895G= c.-204G= (n.-204G=) | |
| 1 | g.25812774G>T | CA339117845 | SELENON | c.1198G>T (p.Asp400Tyr) c.1267G>T (p.Asp423Tyr) c.1369G>T (p.Asp457Tyr) n.47G>T n.255+895G>T c.-204G>T (n.-204G>T) | ClinVar dbSNP |
| 1 | g.25812775A>C | CA339117846 | SELENON | c.1199A>C (p.Asp400Ala) c.1268A>C (p.Asp423Ala) c.1370A>C (p.Asp457Ala) n.48A>C n.255+896A>C c.-203A>C (n.-203A>C) | |
| 1 | g.25812775A>G | CA339117847 | SELENON | c.1199A>G (p.Asp400Gly) c.1268A>G (p.Asp423Gly) c.1370A>G (p.Asp457Gly) n.48A>G n.255+896A>G c.-203A>G (n.-203A>G) | |
| 1 | g.25812775A>T | CA339117848 | SELENON | c.1199A>T (p.Asp400Val) c.1268A>T (p.Asp423Val) c.1370A>T (p.Asp457Val) n.48A>T n.255+896A>T c.-203A>T (n.-203A>T) | |
| 1 | g.25812776T>A | CA339117849 | SELENON | c.1200T>A (p.Asp400Glu) c.1269T>A (p.Asp423Glu) c.1371T>A (p.Asp457Glu) n.49T>A n.255+897T>A c.-202T>A (n.-202T>A) | |
| 1 | g.25812776T>C | CA416759316 | SELENON | c.1200T>C (p.Asp400=) c.1269T>C (p.Asp423=) c.1371T>C (p.Asp457=) n.49T>C n.255+897T>C c.-202T>C (n.-202T>C) | dbSNP |