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.154556172_154563959del | CA1139532681 | IKBKG | c.159_1020del c.195_1056del c.-87-121_654del n.570_2453del c.195_903del c.195_1113del n.570_2713del c.195_759del c.*187_*1048del c.195_1032del c.195_1053del c.399_1260del c.195_1035del c.399_1257del c.399_1107del c.195_900del c.195_687del n.336_925del | |
| X | g.154558532_154564461del | CA2580617548 | IKBKG | c.364_1224del c.400_1260del c.-3_858del c.400_1107del c.400_1317del c.400_963del c.*392_*1252del c.400-3_1236del c.400-3_1257del c.604_1464del c.400_1239del c.604-3_1461del c.604_1321+441del c.604_1311del c.400-3_1104del c.399+2156_891del n.540+2156_1129del | |
| X | g.154558590T>A | CA415214114 | IKBKG | c.422T>A (p.Leu141Gln) c.458T>A (p.Leu153Gln) c.56T>A (p.Leu19Gln) n.830T>A n.833T>A c.*450T>A (n.*450T>A) c.455T>A (p.Leu152Gln) n.200-4220T>A c.662T>A (p.Leu221Gln) c.659T>A (p.Leu220Gln) c.399+2214T>A (n.399+2214T>A) n.540+2214T>A | |
| X | g.154558590T>C | CA415214116 | IKBKG | c.422T>C (p.Leu141Pro) c.458T>C (p.Leu153Pro) c.56T>C (p.Leu19Pro) n.830T>C n.833T>C c.*450T>C (n.*450T>C) c.455T>C (p.Leu152Pro) n.200-4220T>C c.662T>C (p.Leu221Pro) c.659T>C (p.Leu220Pro) c.399+2214T>C (n.399+2214T>C) n.540+2214T>C | |
| X | g.154558590T>G | CA121482 | IKBKG | c.422T>G (p.Leu141Arg) c.458T>G (p.Leu153Arg) c.56T>G (p.Leu19Arg) n.830T>G n.833T>G c.*450T>G (n.*450T>G) c.455T>G (p.Leu152Arg) n.200-4220T>G c.662T>G (p.Leu221Arg) c.659T>G (p.Leu220Arg) c.399+2214T>G (n.399+2214T>G) n.540+2214T>G | ClinVar dbSNP |
| X | g.154558590T= | CA2466732902 | IKBKG | c.422T= (p.Leu141=) c.458T= (p.Leu153=) c.56T= (p.Leu19=) n.830T= n.833T= c.*450T= (n.*450T=) c.455T= (p.Leu152=) n.200-4220T= c.662T= (p.Leu221=) c.659T= (p.Leu220=) c.399+2214T= (n.399+2214T=) n.540+2214T= | |
| X | g.154558591G>A | CA519284621 | IKBKG | c.423G>A (p.Leu141=) c.459G>A (p.Leu153=) c.57G>A (p.Leu19=) n.831G>A n.834G>A c.*451G>A (n.*451G>A) c.456G>A (p.Leu152=) n.200-4219G>A c.663G>A (p.Leu221=) c.660G>A (p.Leu220=) c.399+2215G>A (n.399+2215G>A) n.540+2215G>A | |
| X | g.154558591G>C | CA519284625 | IKBKG | c.423G>C (p.Leu141=) c.459G>C (p.Leu153=) c.57G>C (p.Leu19=) n.831G>C n.834G>C c.*451G>C (n.*451G>C) c.456G>C (p.Leu152=) n.200-4219G>C c.663G>C (p.Leu221=) c.660G>C (p.Leu220=) c.399+2215G>C (n.399+2215G>C) n.540+2215G>C | |
| X | g.154558591G>T | CA519284623 | IKBKG | c.423G>T (p.Leu141=) c.459G>T (p.Leu153=) c.57G>T (p.Leu19=) n.831G>T n.834G>T c.*451G>T (n.*451G>T) c.456G>T (p.Leu152=) n.200-4219G>T c.663G>T (p.Leu221=) c.660G>T (p.Leu220=) c.399+2215G>T (n.399+2215G>T) n.540+2215G>T | |
| X | g.154558592C>A | CA415214120 | IKBKG | c.424C>A (p.Gln142Lys) c.460C>A (p.Gln154Lys) c.58C>A (p.Gln20Lys) n.832C>A n.835C>A c.*452C>A (n.*452C>A) c.457C>A (p.Gln153Lys) n.200-4218C>A c.664C>A (p.Gln222Lys) c.661C>A (p.Gln221Lys) c.399+2216C>A (n.399+2216C>A) n.540+2216C>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154558592C= | CA2466732903 | IKBKG | c.424C= (p.Gln142=) c.460C= (p.Gln154=) c.58C= (p.Gln20=) n.832C= n.835C= c.*452C= (n.*452C=) c.457C= (p.Gln153=) n.200-4218C= c.664C= (p.Gln222=) c.661C= (p.Gln221=) c.399+2216C= (n.399+2216C=) n.540+2216C= | |
| X | g.154558592C>G | CA415214122 | IKBKG | c.424C>G (p.Gln142Glu) c.460C>G (p.Gln154Glu) c.58C>G (p.Gln20Glu) n.832C>G n.835C>G c.*452C>G (n.*452C>G) c.457C>G (p.Gln153Glu) n.200-4218C>G c.664C>G (p.Gln222Glu) c.661C>G (p.Gln221Glu) c.399+2216C>G (n.399+2216C>G) n.540+2216C>G | |
| X | g.154558592C>T | CA415214124 | IKBKG | c.424C>T (p.Gln142Ter) c.460C>T (p.Gln154Ter) c.58C>T (p.Gln20Ter) n.832C>T n.835C>T c.*452C>T (n.*452C>T) c.457C>T (p.Gln153Ter) n.200-4218C>T c.664C>T (p.Gln222Ter) c.661C>T (p.Gln221Ter) c.399+2216C>T (n.399+2216C>T) n.540+2216C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154558593A>C | CA415214129 | IKBKG | c.425A>C (p.Gln142Pro) c.461A>C (p.Gln154Pro) c.59A>C (p.Gln20Pro) n.833A>C n.836A>C c.*453A>C (n.*453A>C) c.458A>C (p.Gln153Pro) n.200-4217A>C c.665A>C (p.Gln222Pro) c.662A>C (p.Gln221Pro) c.399+2217A>C (n.399+2217A>C) n.540+2217A>C | |
| X | g.154558593A>G | CA415214127 | IKBKG | c.425A>G (p.Gln142Arg) c.461A>G (p.Gln154Arg) c.59A>G (p.Gln20Arg) n.833A>G n.836A>G c.*453A>G (n.*453A>G) c.458A>G (p.Gln153Arg) n.200-4217A>G c.665A>G (p.Gln222Arg) c.662A>G (p.Gln221Arg) c.399+2217A>G (n.399+2217A>G) n.540+2217A>G | |
| X | g.154558593A>T | CA415214125 | IKBKG | c.425A>T (p.Gln142Leu) c.461A>T (p.Gln154Leu) c.59A>T (p.Gln20Leu) n.833A>T n.836A>T c.*453A>T (n.*453A>T) c.458A>T (p.Gln153Leu) n.200-4217A>T c.665A>T (p.Gln222Leu) c.662A>T (p.Gln221Leu) c.399+2217A>T (n.399+2217A>T) n.540+2217A>T | |
| X | g.154558594G>A | CA519284631 | IKBKG | c.426G>A (p.Gln142=) c.462G>A (p.Gln154=) c.60G>A (p.Gln20=) n.834G>A n.837G>A c.*454G>A (n.*454G>A) c.459G>A (p.Gln153=) n.200-4216G>A c.666G>A (p.Gln222=) c.663G>A (p.Gln221=) c.399+2218G>A (n.399+2218G>A) n.540+2218G>A | |
| X | g.154558594G>C | CA415214131 | IKBKG | c.426G>C (p.Gln142His) c.462G>C (p.Gln154His) c.60G>C (p.Gln20His) n.834G>C n.837G>C c.*454G>C (n.*454G>C) c.459G>C (p.Gln153His) n.200-4216G>C c.666G>C (p.Gln222His) c.663G>C (p.Gln221His) c.399+2218G>C (n.399+2218G>C) n.540+2218G>C | |
| X | g.154558594G>T | CA415214133 | IKBKG | c.426G>T (p.Gln142His) c.462G>T (p.Gln154His) c.60G>T (p.Gln20His) n.834G>T n.837G>T c.*454G>T (n.*454G>T) c.459G>T (p.Gln153His) n.200-4216G>T c.666G>T (p.Gln222His) c.663G>T (p.Gln221His) c.399+2218G>T (n.399+2218G>T) n.540+2218G>T | |
| X | g.154558595G>A | CA415214136 | IKBKG | c.427G>A (p.Glu143Lys) c.463G>A (p.Glu155Lys) c.61G>A (p.Glu21Lys) n.835G>A n.838G>A c.*455G>A (n.*455G>A) c.460G>A (p.Glu154Lys) n.200-4215G>A c.667G>A (p.Glu223Lys) c.664G>A (p.Glu222Lys) c.399+2219G>A (n.399+2219G>A) n.540+2219G>A | |
| X | g.154558595G>C | CA415214138 | IKBKG | c.427G>C (p.Glu143Gln) c.463G>C (p.Glu155Gln) c.61G>C (p.Glu21Gln) n.835G>C n.838G>C c.*455G>C (n.*455G>C) c.460G>C (p.Glu154Gln) n.200-4215G>C c.667G>C (p.Glu223Gln) c.664G>C (p.Glu222Gln) c.399+2219G>C (n.399+2219G>C) n.540+2219G>C | |
| X | g.154558595G>T | CA415214140 | IKBKG | c.427G>T (p.Glu143Ter) c.463G>T (p.Glu155Ter) c.61G>T (p.Glu21Ter) n.835G>T n.838G>T c.*455G>T (n.*455G>T) c.460G>T (p.Glu154Ter) n.200-4215G>T c.667G>T (p.Glu223Ter) c.664G>T (p.Glu222Ter) c.399+2219G>T (n.399+2219G>T) n.540+2219G>T | |
| X | g.154558596A>C | CA415214143 | IKBKG | c.428A>C (p.Glu143Ala) c.464A>C (p.Glu155Ala) c.62A>C (p.Glu21Ala) n.836A>C n.839A>C c.*456A>C (n.*456A>C) c.461A>C (p.Glu154Ala) n.200-4214A>C c.668A>C (p.Glu223Ala) c.665A>C (p.Glu222Ala) c.399+2220A>C (n.399+2220A>C) n.540+2220A>C | |
| X | g.154558596A>G | CA415214145 | IKBKG | c.428A>G (p.Glu143Gly) c.464A>G (p.Glu155Gly) c.62A>G (p.Glu21Gly) n.836A>G n.839A>G c.*456A>G (n.*456A>G) c.461A>G (p.Glu154Gly) n.200-4214A>G c.668A>G (p.Glu223Gly) c.665A>G (p.Glu222Gly) c.399+2220A>G (n.399+2220A>G) n.540+2220A>G | |
| X | g.154558596A>T | CA415214146 | IKBKG | c.428A>T (p.Glu143Val) c.464A>T (p.Glu155Val) c.62A>T (p.Glu21Val) n.836A>T n.839A>T c.*456A>T (n.*456A>T) c.461A>T (p.Glu154Val) n.200-4214A>T c.668A>T (p.Glu223Val) c.665A>T (p.Glu222Val) c.399+2220A>T (n.399+2220A>T) n.540+2220A>T | |
| X | g.154558597G>A | CA519284641 | IKBKG | c.429G>A (p.Glu143=) c.465G>A (p.Glu155=) c.63G>A (p.Glu21=) n.837G>A n.840G>A c.*457G>A (n.*457G>A) c.462G>A (p.Glu154=) n.200-4213G>A c.669G>A (p.Glu223=) c.666G>A (p.Glu222=) c.399+2221G>A (n.399+2221G>A) n.540+2221G>A | |
| X | g.154558597G>C | CA415214150 | IKBKG | c.429G>C (p.Glu143Asp) c.465G>C (p.Glu155Asp) c.63G>C (p.Glu21Asp) n.837G>C n.840G>C c.*457G>C (n.*457G>C) c.462G>C (p.Glu154Asp) n.200-4213G>C c.669G>C (p.Glu223Asp) c.666G>C (p.Glu222Asp) c.399+2221G>C (n.399+2221G>C) n.540+2221G>C | dbSNP gnomAD v4 |
| X | g.154558597G= | CA2466732904 | IKBKG | c.429G= (p.Glu143=) c.465G= (p.Glu155=) c.63G= (p.Glu21=) n.837G= n.840G= c.*457G= (n.*457G=) c.462G= (p.Glu154=) n.200-4213G= c.669G= (p.Glu223=) c.666G= (p.Glu222=) c.399+2221G= (n.399+2221G=) n.540+2221G= | |
| X | g.154558597G>T | CA415214151 | IKBKG | c.429G>T (p.Glu143Asp) c.465G>T (p.Glu155Asp) c.63G>T (p.Glu21Asp) n.837G>T n.840G>T c.*457G>T (n.*457G>T) c.462G>T (p.Glu154Asp) n.200-4213G>T c.669G>T (p.Glu223Asp) c.666G>T (p.Glu222Asp) c.399+2221G>T (n.399+2221G>T) n.540+2221G>T | |
| X | g.154558598A= | CA2466732905 | IKBKG | c.430A= (p.Ser144=) c.466A= (p.Ser156=) c.64A= (p.Ser22=) n.838A= n.841A= c.*458A= (n.*458A=) c.463A= (p.Ser155=) n.200-4212A= c.670A= (p.Ser224=) c.667A= (p.Ser223=) c.399+2222A= (n.399+2222A=) n.540+2222A= | |
| X | g.154558598A>C | CA415214153 | IKBKG | c.430A>C (p.Ser144Arg) c.466A>C (p.Ser156Arg) c.64A>C (p.Ser22Arg) n.838A>C n.841A>C c.*458A>C (n.*458A>C) c.463A>C (p.Ser155Arg) n.200-4212A>C c.670A>C (p.Ser224Arg) c.667A>C (p.Ser223Arg) c.399+2222A>C (n.399+2222A>C) n.540+2222A>C | |
| X | g.154558598A>G | CA415214156 | IKBKG | c.430A>G (p.Ser144Gly) c.466A>G (p.Ser156Gly) c.64A>G (p.Ser22Gly) n.838A>G n.841A>G c.*458A>G (n.*458A>G) c.463A>G (p.Ser155Gly) n.200-4212A>G c.670A>G (p.Ser224Gly) c.667A>G (p.Ser223Gly) c.399+2222A>G (n.399+2222A>G) n.540+2222A>G | dbSNP |
| X | g.154558598A>T | CA415214157 | IKBKG | c.430A>T (p.Ser144Cys) c.466A>T (p.Ser156Cys) c.64A>T (p.Ser22Cys) n.838A>T n.841A>T c.*458A>T (n.*458A>T) c.463A>T (p.Ser155Cys) n.200-4212A>T c.670A>T (p.Ser224Cys) c.667A>T (p.Ser223Cys) c.399+2222A>T (n.399+2222A>T) n.540+2222A>T | |
| X | g.154558599G>A | CA415214162 | IKBKG | c.431G>A (p.Ser144Asn) c.467G>A (p.Ser156Asn) c.65G>A (p.Ser22Asn) n.839G>A n.842G>A c.*459G>A (n.*459G>A) c.464G>A (p.Ser155Asn) n.200-4211G>A c.671G>A (p.Ser224Asn) c.668G>A (p.Ser223Asn) c.399+2223G>A (n.399+2223G>A) n.540+2223G>A | |
| X | g.154558599G>C | CA415214163 | IKBKG | c.431G>C (p.Ser144Thr) c.467G>C (p.Ser156Thr) c.65G>C (p.Ser22Thr) n.839G>C n.842G>C c.*459G>C (n.*459G>C) c.464G>C (p.Ser155Thr) n.200-4211G>C c.671G>C (p.Ser224Thr) c.668G>C (p.Ser223Thr) c.399+2223G>C (n.399+2223G>C) n.540+2223G>C | |
| X | g.154558599G>T | CA415214160 | IKBKG | c.431G>T (p.Ser144Ile) c.467G>T (p.Ser156Ile) c.65G>T (p.Ser22Ile) n.839G>T n.842G>T c.*459G>T (n.*459G>T) c.464G>T (p.Ser155Ile) n.200-4211G>T c.671G>T (p.Ser224Ile) c.668G>T (p.Ser223Ile) c.399+2223G>T (n.399+2223G>T) n.540+2223G>T | gnomAD v4 |
| X | g.154558600C>A | CA415214166 | IKBKG | c.432C>A (p.Ser144Arg) c.468C>A (p.Ser156Arg) c.66C>A (p.Ser22Arg) n.840C>A n.843C>A c.*460C>A (n.*460C>A) c.465C>A (p.Ser155Arg) n.200-4210C>A c.672C>A (p.Ser224Arg) c.669C>A (p.Ser223Arg) c.399+2224C>A (n.399+2224C>A) n.540+2224C>A | gnomAD v4 |
| X | g.154558600C>G | CA415214168 | IKBKG | c.432C>G (p.Ser144Arg) c.468C>G (p.Ser156Arg) c.66C>G (p.Ser22Arg) n.840C>G n.843C>G c.*460C>G (n.*460C>G) c.465C>G (p.Ser155Arg) n.200-4210C>G c.672C>G (p.Ser224Arg) c.669C>G (p.Ser223Arg) c.399+2224C>G (n.399+2224C>G) n.540+2224C>G | |
| X | g.154558600C>T | CA519284648 | IKBKG | c.432C>T (p.Ser144=) c.468C>T (p.Ser156=) c.66C>T (p.Ser22=) n.840C>T n.843C>T c.*460C>T (n.*460C>T) c.465C>T (p.Ser155=) n.200-4210C>T c.672C>T (p.Ser224=) c.669C>T (p.Ser223=) c.399+2224C>T (n.399+2224C>T) n.540+2224C>T | |
| X | g.154558601C>A | CA415214170 | IKBKG | c.433C>A (p.Gln145Lys) c.469C>A (p.Gln157Lys) c.67C>A (p.Gln23Lys) n.841C>A n.844C>A c.*461C>A (n.*461C>A) c.466C>A (p.Gln156Lys) n.200-4209C>A c.673C>A (p.Gln225Lys) c.670C>A (p.Gln224Lys) c.399+2225C>A (n.399+2225C>A) n.540+2225C>A | |
| X | g.154558601C>G | CA415214172 | IKBKG | c.433C>G (p.Gln145Glu) c.469C>G (p.Gln157Glu) c.67C>G (p.Gln23Glu) n.841C>G n.844C>G c.*461C>G (n.*461C>G) c.466C>G (p.Gln156Glu) n.200-4209C>G c.673C>G (p.Gln225Glu) c.670C>G (p.Gln224Glu) c.399+2225C>G (n.399+2225C>G) n.540+2225C>G | |
| X | g.154558601C>T | CA415214174 | IKBKG | c.433C>T (p.Gln145Ter) c.469C>T (p.Gln157Ter) c.67C>T (p.Gln23Ter) n.841C>T n.844C>T c.*461C>T (n.*461C>T) c.466C>T (p.Gln156Ter) n.200-4209C>T c.673C>T (p.Gln225Ter) c.670C>T (p.Gln224Ter) c.399+2225C>T (n.399+2225C>T) n.540+2225C>T | |
| X | g.154558602A= | CA2466732906 | IKBKG | c.434A= (p.Gln145=) c.470A= (p.Gln157=) c.68A= (p.Gln23=) n.842A= n.845A= c.*462A= (n.*462A=) c.467A= (p.Gln156=) n.200-4208A= c.674A= (p.Gln225=) c.671A= (p.Gln224=) c.399+2226A= (n.399+2226A=) n.540+2226A= | |
| X | g.154558602A>C | CA214035 | IKBKG | c.434A>C (p.Gln145Pro) c.470A>C (p.Gln157Pro) c.68A>C (p.Gln23Pro) n.842A>C n.845A>C c.*462A>C (n.*462A>C) c.467A>C (p.Gln156Pro) n.200-4208A>C c.674A>C (p.Gln225Pro) c.671A>C (p.Gln224Pro) c.399+2226A>C (n.399+2226A>C) n.540+2226A>C | ClinVar dbSNP |
| X | g.154558602A>G | CA415214177 | IKBKG | c.434A>G (p.Gln145Arg) c.470A>G (p.Gln157Arg) c.68A>G (p.Gln23Arg) n.842A>G n.845A>G c.*462A>G (n.*462A>G) c.467A>G (p.Gln156Arg) n.200-4208A>G c.674A>G (p.Gln225Arg) c.671A>G (p.Gln224Arg) c.399+2226A>G (n.399+2226A>G) n.540+2226A>G | |
| X | g.154558602A>T | CA415214180 | IKBKG | c.434A>T (p.Gln145Leu) c.470A>T (p.Gln157Leu) c.68A>T (p.Gln23Leu) n.842A>T n.845A>T c.*462A>T (n.*462A>T) c.467A>T (p.Gln156Leu) n.200-4208A>T c.674A>T (p.Gln225Leu) c.671A>T (p.Gln224Leu) c.399+2226A>T (n.399+2226A>T) n.540+2226A>T | |
| X | g.154558603G>A | CA519284656 | IKBKG | c.435G>A (p.Gln145=) c.471G>A (p.Gln157=) c.69G>A (p.Gln23=) n.843G>A n.846G>A c.*463G>A (n.*463G>A) c.468G>A (p.Gln156=) n.200-4207G>A c.675G>A (p.Gln225=) c.672G>A (p.Gln224=) c.399+2227G>A (n.399+2227G>A) n.540+2227G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154558603G>C | CA415214182 | IKBKG | c.435G>C (p.Gln145His) c.471G>C (p.Gln157His) c.69G>C (p.Gln23His) n.843G>C n.846G>C c.*463G>C (n.*463G>C) c.468G>C (p.Gln156His) n.200-4207G>C c.675G>C (p.Gln225His) c.672G>C (p.Gln224His) c.399+2227G>C (n.399+2227G>C) n.540+2227G>C | |
| X | g.154558603G= | CA2466732907 | IKBKG | c.435G= (p.Gln145=) c.471G= (p.Gln157=) c.69G= (p.Gln23=) n.843G= n.846G= c.*463G= (n.*463G=) c.468G= (p.Gln156=) n.200-4207G= c.675G= (p.Gln225=) c.672G= (p.Gln224=) c.399+2227G= (n.399+2227G=) n.540+2227G= | |
| X | g.154558603G>T | CA415214184 | IKBKG | c.435G>T (p.Gln145His) c.471G>T (p.Gln157His) c.69G>T (p.Gln23His) n.843G>T n.846G>T c.*463G>T (n.*463G>T) c.468G>T (p.Gln156His) n.200-4207G>T c.675G>T (p.Gln225His) c.672G>T (p.Gln224His) c.399+2227G>T (n.399+2227G>T) n.540+2227G>T |