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 |
|---|---|---|---|---|---|
| 11 | g.64805916_64807925del | CA915948177 | MEN1 | c.638_1065-143del c.623_*358-143del c.623_1050-143del c.623_*146-143del c.384_797-143del n.655_1400del n.375_1012-143del n.283_1432-143del n.663_1408del n.690_1327-143del c.349_925-143del c.623_1150del c.549+74_945-143del c.638_1165del | ClinVar |
| 11 | g.64807503_64810161del | CA2740098007 | MEN1 | c.-23-28_798+50del c.-23-28_*91+50del c.-23-28_783+50del n.10-28_815+50del n.18-28_823+50del n.45-28_1060+50del c.-51_783+50del c.-23-28_678+50del | |
| 11 | g.64807662_64807666del | CA645574148 | MEN1 | c.686_690del (p.Lys229IlefsTer6) c.657_661del (p.Glu219AspfsTer?) c.671_675del (p.Lys224IlefsTer6) c.418_422del c.22_26del n.703_707del n.633_637del n.331_335del n.711_715del n.948_952del c.397_401del c.566_570del (p.Lys189IlefsTer6) | COSMIC |
| 11 | g.64807663T>A | CA381185192 | MEN1 | c.687A>T (p.Lys229Asn) c.658A>T (p.Arg220Trp) c.672A>T (p.Lys224Asn) c.419A>T c.23A>T n.704A>T n.634A>T n.332A>T n.712A>T n.949A>T c.398A>T c.567A>T (p.Lys189Asn) | |
| 11 | g.64807663T>C | CA475162808 | MEN1 | c.687A>G (p.Lys229=) c.658A>G (p.Arg220Gly) c.672A>G (p.Lys224=) c.419A>G c.23A>G n.704A>G n.634A>G n.332A>G n.712A>G n.949A>G c.398A>G c.567A>G (p.Lys189=) | |
| 11 | g.64807663T>G | CA381185193 | MEN1 | c.687A>C (p.Lys229Asn) c.658A>C (p.Arg220=) c.672A>C (p.Lys224Asn) c.419A>C c.23A>C n.704A>C n.634A>C n.332A>C n.712A>C n.949A>C c.398A>C c.567A>C (p.Lys189Asn) | |
| 11 | g.64807663_64807898del | CA2695214707 | MEN1 | c.662_687del c.640+7_658del c.647_672del c.401+7_419del n.679_704del n.399_634del n.307_332del n.687_712del n.714_949del c.373_398del c.549+98_567del | |
| 11 | g.64807664T>A | CA381185195 | MEN1 | c.686A>T (p.Lys229Ile) c.657A>T (p.Glu219Asp) c.671A>T (p.Lys224Ile) c.418A>T c.22A>T n.703A>T n.633A>T n.331A>T n.711A>T n.948A>T c.397A>T c.566A>T (p.Lys189Ile) | |
| 11 | g.64807664T>C | CA381185197 | MEN1 | c.686A>G (p.Lys229Arg) c.657A>G (p.Glu219=) c.671A>G (p.Lys224Arg) c.418A>G c.22A>G n.703A>G n.633A>G n.331A>G n.711A>G n.948A>G c.397A>G c.566A>G (p.Lys189Arg) | |
| 11 | g.64807664T>G | CA009573 | MEN1 | c.686A>C (p.Lys229Thr) c.657A>C (p.Glu219Asp) c.671A>C (p.Lys224Thr) c.418A>C c.22A>C n.703A>C n.633A>C n.331A>C n.711A>C n.948A>C c.397A>C c.566A>C (p.Lys189Thr) | dbSNP |
| 11 | g.64807664T= | CA1978892160 | MEN1 | c.686A= (p.Lys229=) c.657A= (p.Glu219=) c.671A= (p.Lys224=) c.418A= c.22A= n.703A= n.633A= n.331A= n.711A= n.948A= c.397A= c.566A= (p.Lys189=) | |
| 11 | g.64807665T>A | CA381185200 | MEN1 | c.685A>T (p.Lys229Ter) c.656A>T (p.Glu219Val) c.670A>T (p.Lys224Ter) c.417A>T c.21A>T n.702A>T n.632A>T n.330A>T n.710A>T n.947A>T c.396A>T c.565A>T (p.Lys189Ter) | ClinVar dbSNP |
| 11 | g.64807665T>C | CA381185201 | MEN1 | c.685A>G (p.Lys229Glu) c.656A>G (p.Glu219Gly) c.670A>G (p.Lys224Glu) c.417A>G c.21A>G n.702A>G n.632A>G n.330A>G n.710A>G n.947A>G c.396A>G c.565A>G (p.Lys189Glu) | |
| 11 | g.64807665T>G | CA381185203 | MEN1 | c.685A>C (p.Lys229Gln) c.656A>C (p.Glu219Ala) c.670A>C (p.Lys224Gln) c.417A>C c.21A>C n.702A>C n.632A>C n.330A>C n.710A>C n.947A>C c.396A>C c.565A>C (p.Lys189Gln) | |
| 11 | g.64807665T= | CA1978892167 | MEN1 | c.685A= (p.Lys229=) c.656A= (p.Glu219=) c.670A= (p.Lys224=) c.417A= c.21A= n.702A= n.632A= n.330A= n.710A= n.947A= c.396A= c.565A= (p.Lys189=) | |
| 11 | g.64807666C>A | CA475162809 | MEN1 | c.684G>T (p.Leu228=) c.655G>T (p.Glu219Ter) c.669G>T (p.Leu223=) c.416G>T c.20G>T n.701G>T n.631G>T n.329G>T n.709G>T n.946G>T c.395G>T c.564G>T (p.Leu188=) | |
| 11 | g.64807666C>G | CA475162810 | MEN1 | c.684G>C (p.Leu228=) c.655G>C (p.Glu219Gln) c.669G>C (p.Leu223=) c.416G>C c.20G>C n.701G>C n.631G>C n.329G>C n.709G>C n.946G>C c.395G>C c.564G>C (p.Leu188=) | |
| 11 | g.64807666C>T | CA475162811 | MEN1 | c.684G>A (p.Leu228=) c.655G>A (p.Glu219Lys) c.669G>A (p.Leu223=) c.416G>A c.20G>A n.701G>A n.631G>A n.329G>A n.709G>A n.946G>A c.395G>A c.564G>A (p.Leu188=) | ClinVar dbSNP COSMIC |
| 11 | g.64807667_64807675del | CA645583349 | MEN1 | c.676_684del (p.Leu226_Leu228del) c.647_655del (p.Ala216_Pro218del) c.661_669del (p.Leu221_Leu223del) c.408_416del c.12_20del n.693_701del n.623_631del n.321_329del n.701_709del n.938_946del c.387_395del c.556_564del (p.Leu186_Leu188del) | COSMIC |
| 11 | g.64807667del | CA2695214708 | MEN1 | c.683del (p.Leu228ArgfsTer?) c.654del (p.Glu219LysfsTer?) c.668del (p.Leu223ArgfsTer?) c.415del c.19del n.700del n.630del n.328del n.708del n.945del c.394del c.563del (p.Leu188ArgfsTer?) | |
| 11 | g.64807667A= | CA1978892174 | MEN1 | c.683T= (p.Leu228=) c.654T= (p.Pro218=) c.668T= (p.Leu223=) c.415T= c.19T= n.700T= n.630T= n.328T= n.708T= n.945T= c.394T= c.563T= (p.Leu188=) | |
| 11 | g.64807667A>C | CA381185205 | MEN1 | c.683T>G (p.Leu228Arg) c.654T>G (p.Pro218=) c.668T>G (p.Leu223Arg) c.415T>G c.19T>G n.700T>G n.630T>G n.328T>G n.708T>G n.945T>G c.394T>G c.563T>G (p.Leu188Arg) | |
| 11 | g.64807667A>G | CA10588532 | MEN1 | c.683T>C (p.Leu228Pro) c.654T>C (p.Pro218=) c.668T>C (p.Leu223Pro) c.415T>C c.19T>C n.700T>C n.630T>C n.328T>C n.708T>C n.945T>C c.394T>C c.563T>C (p.Leu188Pro) | ClinVar dbSNP |
| 11 | g.64807667A>T | CA381185206 | MEN1 | c.683T>A (p.Leu228Gln) c.654T>A (p.Pro218=) c.668T>A (p.Leu223Gln) c.415T>A c.19T>A n.700T>A n.630T>A n.328T>A n.708T>A n.945T>A c.394T>A c.563T>A (p.Leu188Gln) | |
| 11 | g.64807667_64807670delinsAGGT | CA1978892172 | MEN1 | c.680_683delinsACCT (p.Tyr227=) c.651_654delinsACCT (p.Val217=) c.665_668delinsACCT (p.Tyr222=) c.412_415delinsACCT c.16_19delinsACCT n.697_700delinsACCT n.627_630delinsACCT n.325_328delinsACCT n.705_708delinsACCT n.942_945delinsACCT c.391_394delinsACCT c.560_563delinsACCT (p.Tyr187=) | |
| 11 | g.64807668G>A | CA475162812 | MEN1 | c.682C>T (p.Leu228=) c.653C>T (p.Pro218Leu) c.667C>T (p.Leu223=) c.414C>T c.18C>T n.699C>T n.629C>T n.327C>T n.707C>T n.944C>T c.393C>T c.562C>T (p.Leu188=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64807668G>C | CA381185209 | MEN1 | c.682C>G (p.Leu228Val) c.653C>G (p.Pro218Arg) c.667C>G (p.Leu223Val) c.414C>G c.18C>G n.699C>G n.629C>G n.327C>G n.707C>G n.944C>G c.393C>G c.562C>G (p.Leu188Val) | |
| 11 | g.64807668G= | CA1978892178 | MEN1 | c.682C= (p.Leu228=) c.653C= (p.Pro218=) c.667C= (p.Leu223=) c.414C= c.18C= n.699C= n.629C= n.327C= n.707C= n.944C= c.393C= c.562C= (p.Leu188=) | |
| 11 | g.64807668G>T | CA381185210 | MEN1 | c.682C>A (p.Leu228Met) c.653C>A (p.Pro218His) c.667C>A (p.Leu223Met) c.414C>A c.18C>A n.699C>A n.629C>A n.327C>A n.707C>A n.944C>A c.393C>A c.562C>A (p.Leu188Met) | |
| 11 | g.64807669del | CA2695214709 | MEN1 | c.682del (p.Leu228Ter) c.653del (p.Pro218LeufsTer?) c.667del (p.Leu223Ter) c.414del c.18del n.699del n.629del n.327del n.707del n.944del c.393del c.562del (p.Leu188Ter) | |
| 11 | g.64807668_64807670del | CA1978892177 | MEN1 | c.680_682del (p.Tyr227del) c.651_653del (p.Pro218del) c.665_667del (p.Tyr222del) c.412_414del c.16_18del n.697_699del n.627_629del n.325_327del n.705_707del n.942_944del c.391_393del c.560_562del (p.Tyr187del) | dbSNP |
| 11 | g.64807669G>A | CA475162813 | MEN1 | c.681C>T (p.Tyr227=) c.652C>T (p.Pro218Ser) c.666C>T (p.Tyr222=) c.413C>T c.17C>T n.698C>T n.628C>T n.326C>T n.706C>T n.943C>T c.392C>T c.561C>T (p.Tyr187=) | ClinVar dbSNP |
| 11 | g.64807669G>C | CA009568 | MEN1 | c.681C>G (p.Tyr227Ter) c.652C>G (p.Pro218Ala) c.666C>G (p.Tyr222Ter) c.413C>G c.17C>G n.698C>G n.628C>G n.326C>G n.706C>G n.943C>G c.392C>G c.561C>G (p.Tyr187Ter) | dbSNP |
| 11 | g.64807669G= | CA1978892186 | MEN1 | c.681C= (p.Tyr227=) c.652C= (p.Pro218=) c.666C= (p.Tyr222=) c.413C= c.17C= n.698C= n.628C= n.326C= n.706C= n.943C= c.392C= c.561C= (p.Tyr187=) | |
| 11 | g.64807669G>T | CA381185212 | MEN1 | c.681C>A (p.Tyr227Ter) c.652C>A (p.Pro218Thr) c.666C>A (p.Tyr222Ter) c.413C>A c.17C>A n.698C>A n.628C>A n.326C>A n.706C>A n.943C>A c.392C>A c.561C>A (p.Tyr187Ter) | ClinVar dbSNP |
| 11 | g.64807670T>A | CA381185214 | MEN1 | c.680A>T (p.Tyr227Phe) c.651A>T (p.Val217=) c.665A>T (p.Tyr222Phe) c.412A>T c.16A>T n.697A>T n.627A>T n.325A>T n.705A>T n.942A>T c.391A>T c.560A>T (p.Tyr187Phe) | dbSNP |
| 11 | g.64807670T>C | CA381185217 | MEN1 | c.680A>G (p.Tyr227Cys) c.651A>G (p.Val217=) c.665A>G (p.Tyr222Cys) c.412A>G c.16A>G n.697A>G n.627A>G n.325A>G n.705A>G n.942A>G c.391A>G c.560A>G (p.Tyr187Cys) | |
| 11 | g.64807670T>G | CA381185215 | MEN1 | c.680A>C (p.Tyr227Ser) c.651A>C (p.Val217=) c.665A>C (p.Tyr222Ser) c.412A>C c.16A>C n.697A>C n.627A>C n.325A>C n.705A>C n.942A>C c.391A>C c.560A>C (p.Tyr187Ser) | ClinVar dbSNP |
| 11 | g.64807670T= | CA1978892206 | MEN1 | c.680A= (p.Tyr227=) c.651A= (p.Val217=) c.665A= (p.Tyr222=) c.412A= c.16A= n.697A= n.627A= n.325A= n.705A= n.942A= c.391A= c.560A= (p.Tyr187=) | |
| 11 | g.64807671A= | CA1978892211 | MEN1 | c.679T= (p.Tyr227=) c.650T= (p.Val217=) c.664T= (p.Tyr222=) c.411T= c.15T= n.696T= n.626T= n.324T= n.704T= n.941T= c.390T= c.559T= (p.Tyr187=) | |
| 11 | g.64807671A>C | CA381185219 | MEN1 | c.679T>G (p.Tyr227Asp) c.650T>G (p.Val217Gly) c.664T>G (p.Tyr222Asp) c.411T>G c.15T>G n.696T>G n.626T>G n.324T>G n.704T>G n.941T>G c.390T>G c.559T>G (p.Tyr187Asp) | ClinVar dbSNP |
| 11 | g.64807671A>G | CA381185220 | MEN1 | c.679T>C (p.Tyr227His) c.650T>C (p.Val217Ala) c.664T>C (p.Tyr222His) c.411T>C c.15T>C n.696T>C n.626T>C n.324T>C n.704T>C n.941T>C c.390T>C c.559T>C (p.Tyr187His) | |
| 11 | g.64807671A>T | CA381185222 | MEN1 | c.679T>A (p.Tyr227Asn) c.650T>A (p.Val217Glu) c.664T>A (p.Tyr222Asn) c.411T>A c.15T>A n.696T>A n.626T>A n.324T>A n.704T>A n.941T>A c.390T>A c.559T>A (p.Tyr187Asn) | |
| 11 | g.64807672C>A | CA475162814 | MEN1 | c.678G>T (p.Leu226=) c.649G>T (p.Val217Leu) c.663G>T (p.Leu221=) c.410G>T c.14G>T n.695G>T n.625G>T n.323G>T n.703G>T n.940G>T c.389G>T c.558G>T (p.Leu186=) | |
| 11 | g.64807672C= | CA1978892215 | MEN1 | c.678G= (p.Leu226=) c.649G= (p.Val217=) c.663G= (p.Leu221=) c.410G= c.14G= n.695G= n.625G= n.323G= n.703G= n.940G= c.389G= c.558G= (p.Leu186=) | |
| 11 | g.64807672C>G | CA475162815 | MEN1 | c.678G>C (p.Leu226=) c.649G>C (p.Val217Leu) c.663G>C (p.Leu221=) c.410G>C c.14G>C n.695G>C n.625G>C n.323G>C n.703G>C n.940G>C c.389G>C c.558G>C (p.Leu186=) | ClinVar dbSNP |
| 11 | g.64807672C>T | CA475162816 | MEN1 | c.678G>A (p.Leu226=) c.649G>A (p.Val217Ile) c.663G>A (p.Leu221=) c.410G>A c.14G>A n.695G>A n.625G>A n.323G>A n.703G>A n.940G>A c.389G>A c.558G>A (p.Leu186=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64807673A>C | CA381185223 | MEN1 | c.677T>G (p.Leu226Arg) c.648T>G (p.Ala216=) c.662T>G (p.Leu221Arg) c.409T>G c.13T>G n.694T>G n.624T>G n.322T>G n.702T>G n.939T>G c.388T>G c.557T>G (p.Leu186Arg) | |
| 11 | g.64807673A>G | CA381185224 | MEN1 | c.677T>C (p.Leu226Pro) c.648T>C (p.Ala216=) c.662T>C (p.Leu221Pro) c.409T>C c.13T>C n.694T>C n.624T>C n.322T>C n.702T>C n.939T>C c.388T>C c.557T>C (p.Leu186Pro) | ClinVar dbSNP |
| 11 | g.64807673A>T | CA381185225 | MEN1 | c.677T>A (p.Leu226Gln) c.648T>A (p.Ala216=) c.662T>A (p.Leu221Gln) c.409T>A c.13T>A n.694T>A n.624T>A n.322T>A n.702T>A n.939T>A c.388T>A c.557T>A (p.Leu186Gln) | dbSNP |