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 |
|---|---|---|---|---|---|
| 5 | g.56859853_56859862delinsTCAGGTCGCA | CA1548129240 | MAP3K1 | c.772_781delinsTCAGGTCGCA (p.Ser258=) c.394_403delinsTCAGGTCGCA (p.Ser132=) c.517_526delinsTCAGGTCGCA (p.Ser173=) c.361_370delinsTCAGGTCGCA (p.Ser121=) c.283_292delinsTCAGGTCGCA (p.Ser95=) n.803_812delinsTCAGGTCGCA | |
| 5 | g.56859857_56859865del | CA1548129241 | MAP3K1 | c.776_784del (p.Gly259_Thr261del) c.398_406del (p.Gly133_Thr135del) c.521_529del (p.Gly174_Thr176del) c.365_373del (p.Gly122_Thr124del) c.287_295del (p.Gly96_Thr98del) n.807_815del | dbSNP |
| 5 | g.56859860G>A | CA3272608 | MAP3K1 | c.779G>A (p.Arg260His) c.401G>A (p.Arg134His) c.524G>A (p.Arg175His) c.368G>A (p.Arg123His) c.290G>A (p.Arg97His) n.810G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.56859860G>C | CA359802606 | MAP3K1 | c.779G>C (p.Arg260Pro) c.401G>C (p.Arg134Pro) c.524G>C (p.Arg175Pro) c.368G>C (p.Arg123Pro) c.290G>C (p.Arg97Pro) n.810G>C | |
| 5 | g.56859860G= | CA1548129244 | MAP3K1 | c.779G= (p.Arg260=) c.401G= (p.Arg134=) c.524G= (p.Arg175=) c.368G= (p.Arg123=) c.290G= (p.Arg97=) n.810G= | |
| 5 | g.56859860G>T | CA359802607 | MAP3K1 | c.779G>T (p.Arg260Leu) c.401G>T (p.Arg134Leu) c.524G>T (p.Arg175Leu) c.368G>T (p.Arg123Leu) c.290G>T (p.Arg97Leu) n.810G>T | |
| 5 | g.56859861C>A | CA444391743 | MAP3K1 | c.780C>A (p.Arg260=) c.402C>A (p.Arg134=) c.525C>A (p.Arg175=) c.369C>A (p.Arg123=) c.291C>A (p.Arg97=) n.811C>A | |
| 5 | g.56859861C= | CA1548129245 | MAP3K1 | c.780C= (p.Arg260=) c.402C= (p.Arg134=) c.525C= (p.Arg175=) c.369C= (p.Arg123=) c.291C= (p.Arg97=) n.811C= | |
| 5 | g.56859861C>G | CA444391744 | MAP3K1 | c.780C>G (p.Arg260=) c.402C>G (p.Arg134=) c.525C>G (p.Arg175=) c.369C>G (p.Arg123=) c.291C>G (p.Arg97=) n.811C>G | |
| 5 | g.56859861C>T | CA444391745 | MAP3K1 | c.780C>T (p.Arg260=) c.402C>T (p.Arg134=) c.525C>T (p.Arg175=) c.369C>T (p.Arg123=) c.291C>T (p.Arg97=) n.811C>T | dbSNP gnomAD v4 |
| 5 | g.56859862A= | CA1548129246 | MAP3K1 | c.781A= (p.Thr261=) c.403A= (p.Thr135=) c.526A= (p.Thr176=) c.370A= (p.Thr124=) c.292A= (p.Thr98=) n.812A= | |
| 5 | g.56859862A>C | CA359802608 | MAP3K1 | c.781A>C (p.Thr261Pro) c.403A>C (p.Thr135Pro) c.526A>C (p.Thr176Pro) c.370A>C (p.Thr124Pro) c.292A>C (p.Thr98Pro) n.812A>C | |
| 5 | g.56859862A>G | CA359802609 | MAP3K1 | c.781A>G (p.Thr261Ala) c.403A>G (p.Thr135Ala) c.526A>G (p.Thr176Ala) c.370A>G (p.Thr124Ala) c.292A>G (p.Thr98Ala) n.812A>G | |
| 5 | g.56859862A>T | CA359802610 | MAP3K1 | c.781A>T (p.Thr261Ser) c.403A>T (p.Thr135Ser) c.526A>T (p.Thr176Ser) c.370A>T (p.Thr124Ser) c.292A>T (p.Thr98Ser) n.812A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.56859863C>A | CA359802613 | MAP3K1 | c.782C>A (p.Thr261Lys) c.404C>A (p.Thr135Lys) c.527C>A (p.Thr176Lys) c.371C>A (p.Thr124Lys) c.293C>A (p.Thr98Lys) n.813C>A | |
| 5 | g.56859863C= | CA1548129247 | MAP3K1 | c.782C= (p.Thr261=) c.404C= (p.Thr135=) c.527C= (p.Thr176=) c.371C= (p.Thr124=) c.293C= (p.Thr98=) n.813C= | |
| 5 | g.56859863C>G | CA359802611 | MAP3K1 | c.782C>G (p.Thr261Arg) c.404C>G (p.Thr135Arg) c.527C>G (p.Thr176Arg) c.371C>G (p.Thr124Arg) c.293C>G (p.Thr98Arg) n.813C>G | gnomAD v4 |
| 5 | g.56859863C>T | CA359802612 | MAP3K1 | c.782C>T (p.Thr261Ile) c.404C>T (p.Thr135Ile) c.527C>T (p.Thr176Ile) c.371C>T (p.Thr124Ile) c.293C>T (p.Thr98Ile) n.813C>T | dbSNP |
| 5 | g.56859864A= | CA1548129248 | MAP3K1 | c.783A= (p.Thr261=) c.405A= (p.Thr135=) c.528A= (p.Thr176=) c.372A= (p.Thr124=) c.294A= (p.Thr98=) n.814A= | |
| 5 | g.56859864A>C | CA444391746 | MAP3K1 | c.783A>C (p.Thr261=) c.405A>C (p.Thr135=) c.528A>C (p.Thr176=) c.372A>C (p.Thr124=) c.294A>C (p.Thr98=) n.814A>C | dbSNP gnomAD v4 |
| 5 | g.56859864A>G | CA3272609 | MAP3K1 | c.783A>G (p.Thr261=) c.405A>G (p.Thr135=) c.528A>G (p.Thr176=) c.372A>G (p.Thr124=) c.294A>G (p.Thr98=) n.814A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.56859864A>T | CA444391747 | MAP3K1 | c.783A>T (p.Thr261=) c.405A>T (p.Thr135=) c.528A>T (p.Thr176=) c.372A>T (p.Thr124=) c.294A>T (p.Thr98=) n.814A>T | dbSNP gnomAD v4 |
| 5 | g.56859865G>A | CA359802614 | MAP3K1 | c.784G>A (p.Val262Met) c.406G>A (p.Val136Met) c.529G>A (p.Val177Met) c.373G>A (p.Val125Met) c.295G>A (p.Val99Met) n.815G>A | dbSNP |
| 5 | g.56859865G>C | CA359802615 | MAP3K1 | c.784G>C (p.Val262Leu) c.406G>C (p.Val136Leu) c.529G>C (p.Val177Leu) c.373G>C (p.Val125Leu) c.295G>C (p.Val99Leu) n.815G>C | |
| 5 | g.56859865G>T | CA359802616 | MAP3K1 | c.784G>T (p.Val262Leu) c.406G>T (p.Val136Leu) c.529G>T (p.Val177Leu) c.373G>T (p.Val125Leu) c.295G>T (p.Val99Leu) n.815G>T | |
| 5 | g.56859866T>A | CA359802617 | MAP3K1 | c.785T>A (p.Val262Glu) c.407T>A (p.Val136Glu) c.530T>A (p.Val177Glu) c.374T>A (p.Val125Glu) c.296T>A (p.Val99Glu) n.816T>A | |
| 5 | g.56859866T>C | CA359802618 | MAP3K1 | c.785T>C (p.Val262Ala) c.407T>C (p.Val136Ala) c.530T>C (p.Val177Ala) c.374T>C (p.Val125Ala) c.296T>C (p.Val99Ala) n.816T>C | |
| 5 | g.56859866T>G | CA359802619 | MAP3K1 | c.785T>G (p.Val262Gly) c.407T>G (p.Val136Gly) c.530T>G (p.Val177Gly) c.374T>G (p.Val125Gly) c.296T>G (p.Val99Gly) n.816T>G | COSMIC |
| 5 | g.56859867G>A | CA444391748 | MAP3K1 | c.786G>A (p.Val262=) c.408G>A (p.Val136=) c.531G>A (p.Val177=) c.375G>A (p.Val125=) c.297G>A (p.Val99=) n.817G>A | dbSNP |
| 5 | g.56859867G>C | CA444391749 | MAP3K1 | c.786G>C (p.Val262=) c.408G>C (p.Val136=) c.531G>C (p.Val177=) c.375G>C (p.Val125=) c.297G>C (p.Val99=) n.817G>C | |
| 5 | g.56859867G= | CA1548129249 | MAP3K1 | c.786G= (p.Val262=) c.408G= (p.Val136=) c.531G= (p.Val177=) c.375G= (p.Val125=) c.297G= (p.Val99=) n.817G= | |
| 5 | g.56859867G>T | CA444391750 | MAP3K1 | c.786G>T (p.Val262=) c.408G>T (p.Val136=) c.531G>T (p.Val177=) c.375G>T (p.Val125=) c.297G>T (p.Val99=) n.817G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.56859868A>C | CA359802622 | MAP3K1 | c.787A>C (p.Lys263Gln) c.409A>C (p.Lys137Gln) c.532A>C (p.Lys178Gln) c.376A>C (p.Lys126Gln) c.298A>C (p.Lys100Gln) n.818A>C | |
| 5 | g.56859868A>G | CA359802620 | MAP3K1 | c.787A>G (p.Lys263Glu) c.409A>G (p.Lys137Glu) c.532A>G (p.Lys178Glu) c.376A>G (p.Lys126Glu) c.298A>G (p.Lys100Glu) n.818A>G | |
| 5 | g.56859868A>T | CA359802621 | MAP3K1 | c.787A>T (p.Lys263Ter) c.409A>T (p.Lys137Ter) c.532A>T (p.Lys178Ter) c.376A>T (p.Lys126Ter) c.298A>T (p.Lys100Ter) n.818A>T | |
| 5 | g.56859869A= | CA1548129250 | MAP3K1 | c.788A= (p.Lys263=) c.410A= (p.Lys137=) c.533A= (p.Lys178=) c.377A= (p.Lys126=) c.299A= (p.Lys100=) n.819A= | |
| 5 | g.56859869A>C | CA359802623 | MAP3K1 | c.788A>C (p.Lys263Thr) c.410A>C (p.Lys137Thr) c.533A>C (p.Lys178Thr) c.377A>C (p.Lys126Thr) c.299A>C (p.Lys100Thr) n.819A>C | |
| 5 | g.56859869A>G | CA119520111 | MAP3K1 | c.788A>G (p.Lys263Arg) c.410A>G (p.Lys137Arg) c.533A>G (p.Lys178Arg) c.377A>G (p.Lys126Arg) c.299A>G (p.Lys100Arg) n.819A>G | dbSNP |
| 5 | g.56859869A>T | CA359802624 | MAP3K1 | c.788A>T (p.Lys263Ile) c.410A>T (p.Lys137Ile) c.533A>T (p.Lys178Ile) c.377A>T (p.Lys126Ile) c.299A>T (p.Lys100Ile) n.819A>T | |
| 5 | g.56859870A>C | CA359802625 | MAP3K1 | c.789A>C (p.Lys263Asn) c.411A>C (p.Lys137Asn) c.534A>C (p.Lys178Asn) c.378A>C (p.Lys126Asn) c.300A>C (p.Lys100Asn) n.820A>C | |
| 5 | g.56859870A>G | CA444391751 | MAP3K1 | c.789A>G (p.Lys263=) c.411A>G (p.Lys137=) c.534A>G (p.Lys178=) c.378A>G (p.Lys126=) c.300A>G (p.Lys100=) n.820A>G | gnomAD v4 |
| 5 | g.56859870A>T | CA359802626 | MAP3K1 | c.789A>T (p.Lys263Asn) c.411A>T (p.Lys137Asn) c.534A>T (p.Lys178Asn) c.378A>T (p.Lys126Asn) c.300A>T (p.Lys100Asn) n.820A>T | |
| 5 | g.56859871T>A | CA359802627 | MAP3K1 | c.790T>A (p.Ser264Thr) c.412T>A (p.Ser138Thr) c.535T>A (p.Ser179Thr) c.379T>A (p.Ser127Thr) c.301T>A (p.Ser101Thr) n.821T>A | dbSNP gnomAD v2 |
| 5 | g.56859871T>C | CA359802629 | MAP3K1 | c.790T>C (p.Ser264Pro) c.412T>C (p.Ser138Pro) c.535T>C (p.Ser179Pro) c.379T>C (p.Ser127Pro) c.301T>C (p.Ser101Pro) n.821T>C | |
| 5 | g.56859871T>G | CA359802628 | MAP3K1 | c.790T>G (p.Ser264Ala) c.412T>G (p.Ser138Ala) c.535T>G (p.Ser179Ala) c.379T>G (p.Ser127Ala) c.301T>G (p.Ser101Ala) n.821T>G | |
| 5 | g.56859871T= | CA1548129251 | MAP3K1 | c.790T= (p.Ser264=) c.412T= (p.Ser138=) c.535T= (p.Ser179=) c.379T= (p.Ser127=) c.301T= (p.Ser101=) n.821T= | |
| 5 | g.56859872C>A | CA359802630 | MAP3K1 | c.791C>A (p.Ser264Ter) c.413C>A (p.Ser138Ter) c.536C>A (p.Ser179Ter) c.380C>A (p.Ser127Ter) c.302C>A (p.Ser101Ter) n.822C>A | |
| 5 | g.56859872C>G | CA359802631 | MAP3K1 | c.791C>G (p.Ser264Ter) c.413C>G (p.Ser138Ter) c.536C>G (p.Ser179Ter) c.380C>G (p.Ser127Ter) c.302C>G (p.Ser101Ter) n.822C>G | |
| 5 | g.56859872C>T | CA359802632 | MAP3K1 | c.791C>T (p.Ser264Leu) c.413C>T (p.Ser138Leu) c.536C>T (p.Ser179Leu) c.380C>T (p.Ser127Leu) c.302C>T (p.Ser101Leu) n.822C>T | |
| 5 | g.56859872_56859874delinsCAG | CA1548129252 | MAP3K1 | c.791_793delinsCAG (p.Ser264=) c.413_415delinsCAG (p.Ser138=) c.536_538delinsCAG (p.Ser179=) c.380_382delinsCAG (p.Ser127=) c.302_304delinsCAG (p.Ser101=) n.822_824delinsCAG |