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.94478770del | CA2724794958 | MRE11 | c.513del (p.Gly172GlufsTer10) c.522del (p.Gly175GlufsTer10) n.589del c.45del (p.Gly16GlufsTer10) n.809del | dbSNP |
| 11 | g.94478767_94478775delinsTTTTGAAGC | CA1992436600 | MRE11 | c.504_512delinsGCTTCAAAA (p.Leu168=) c.513_521delinsGCTTCAAAA (p.Leu171=) n.580_588delinsGCTTCAAAA c.36_44delinsGCTTCAAAA (p.Leu12=) n.800_808delinsGCTTCAAAA | |
| 11 | g.94478768T>A | CA382377351 | MRE11 | c.511A>T (p.Lys171Ter) c.520A>T (p.Lys174Ter) n.587A>T c.43A>T (p.Lys15Ter) n.807A>T | |
| 11 | g.94478768T>C | CA382377352 | MRE11 | c.511A>G (p.Lys171Glu) c.520A>G (p.Lys174Glu) n.587A>G c.43A>G (p.Lys15Glu) n.807A>G | ClinVar dbSNP |
| 11 | g.94478768T>G | CA382377353 | MRE11 | c.511A>C (p.Lys171Gln) c.520A>C (p.Lys174Gln) n.587A>C c.43A>C (p.Lys15Gln) n.807A>C | |
| 11 | g.94478768T= | CA1992436605 | MRE11 | c.511A= (p.Lys171=) c.520A= (p.Lys174=) n.587A= c.43A= (p.Lys15=) n.807A= | |
| 11 | g.94478768_94478775del | CA192198 | MRE11 | c.504_511del (p.Leu169ArgfsTer16) c.513_520del (p.Leu172ArgfsTer16) n.580_587del c.36_43del (p.Leu13ArgfsTer16) n.800_807del | ClinVar dbSNP gnomAD v4 |
| 11 | g.94478769T>A | CA382377354 | MRE11 | c.510A>T (p.Gln170His) c.519A>T (p.Gln173His) n.586A>T c.42A>T (p.Gln14His) n.806A>T | |
| 11 | g.94478769T>C | CA476286857 | MRE11 | c.510A>G (p.Gln170=) c.519A>G (p.Gln173=) n.586A>G c.42A>G (p.Gln14=) n.806A>G | gnomAD v4 |
| 11 | g.94478769T>G | CA382377355 | MRE11 | c.510A>C (p.Gln170His) c.519A>C (p.Gln173His) n.586A>C c.42A>C (p.Gln14His) n.806A>C | |
| 11 | g.94478770T>A | CA382377357 | MRE11 | c.509A>T (p.Gln170Leu) c.518A>T (p.Gln173Leu) n.585A>T c.41A>T (p.Gln14Leu) n.805A>T | |
| 11 | g.94478770T>C | CA382377361 | MRE11 | c.509A>G (p.Gln170Arg) c.518A>G (p.Gln173Arg) n.585A>G c.41A>G (p.Gln14Arg) n.805A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94478770T>G | CA382377359 | MRE11 | c.509A>C (p.Gln170Pro) c.518A>C (p.Gln173Pro) n.585A>C c.41A>C (p.Gln14Pro) n.805A>C | |
| 11 | g.94478770T= | CA1992436612 | MRE11 | c.509A= (p.Gln170=) c.518A= (p.Gln173=) n.585A= c.41A= (p.Gln14=) n.805A= | |
| 11 | g.94478771G>A | CA166507 | MRE11 | c.508C>T (p.Gln170Ter) c.517C>T (p.Gln173Ter) n.584C>T c.40C>T (p.Gln14Ter) n.804C>T | ClinVar dbSNP |
| 11 | g.94478771G>C | CA382377364 | MRE11 | c.508C>G (p.Gln170Glu) c.517C>G (p.Gln173Glu) n.584C>G c.40C>G (p.Gln14Glu) n.804C>G | |
| 11 | g.94478771G= | CA1992436631 | MRE11 | c.508C= (p.Gln170=) c.517C= (p.Gln173=) n.584C= c.40C= (p.Gln14=) n.804C= | |
| 11 | g.94478771G>T | CA6235382 | MRE11 | c.508C>A (p.Gln170Lys) c.517C>A (p.Gln173Lys) n.584C>A c.40C>A (p.Gln14Lys) n.804C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94478772A>C | CA476286858 | MRE11 | c.507T>G (p.Leu169=) c.516T>G (p.Leu172=) n.583T>G c.39T>G (p.Leu13=) n.803T>G | |
| 11 | g.94478772A>G | CA476286859 | MRE11 | c.507T>C (p.Leu169=) c.516T>C (p.Leu172=) n.583T>C c.39T>C (p.Leu13=) n.803T>C | |
| 11 | g.94478772A>T | CA476286860 | MRE11 | c.507T>A (p.Leu169=) c.516T>A (p.Leu172=) n.583T>A c.39T>A (p.Leu13=) n.803T>A | |
| 11 | g.94478773A>C | CA382377368 | MRE11 | c.506T>G (p.Leu169Arg) c.515T>G (p.Leu172Arg) n.582T>G c.38T>G (p.Leu13Arg) n.802T>G | |
| 11 | g.94478773A>G | CA382377370 | MRE11 | c.506T>C (p.Leu169Pro) c.515T>C (p.Leu172Pro) n.582T>C c.38T>C (p.Leu13Pro) n.802T>C | |
| 11 | g.94478773A>T | CA382377371 | MRE11 | c.506T>A (p.Leu169His) c.515T>A (p.Leu172His) n.582T>A c.38T>A (p.Leu13His) n.802T>A | |
| 11 | g.94478774G>A | CA382377372 | MRE11 | c.505C>T (p.Leu169Phe) c.514C>T (p.Leu172Phe) n.581C>T c.37C>T (p.Leu13Phe) n.801C>T | |
| 11 | g.94478774G>C | CA382377373 | MRE11 | c.505C>G (p.Leu169Val) c.514C>G (p.Leu172Val) n.581C>G c.37C>G (p.Leu13Val) n.801C>G | |
| 11 | g.94478774G>T | CA382377376 | MRE11 | c.505C>A (p.Leu169Ile) c.514C>A (p.Leu172Ile) n.581C>A c.37C>A (p.Leu13Ile) n.801C>A | |
| 11 | g.94478775C>A | CA382377378 | MRE11 | c.504G>T (p.Leu168Phe) c.513G>T (p.Leu171Phe) n.580G>T c.36G>T (p.Leu12Phe) n.800G>T | |
| 11 | g.94478775C= | CA1992436638 | MRE11 | c.504G= (p.Leu168=) c.513G= (p.Leu171=) n.580G= c.36G= (p.Leu12=) n.800G= | |
| 11 | g.94478775C>G | CA6235383 | MRE11 | c.504G>C (p.Leu168Phe) c.513G>C (p.Leu171Phe) n.580G>C c.36G>C (p.Leu12Phe) n.800G>C | dbSNP ExAC gnomAD v2 |
| 11 | g.94478775C>T | CA476286861 | MRE11 | c.504G>A (p.Leu168=) c.513G>A (p.Leu171=) n.580G>A c.36G>A (p.Leu12=) n.800G>A | ClinVar gnomAD v4 |
| 11 | g.94478776A>C | CA382377386 | MRE11 | c.503T>G (p.Leu168Trp) c.512T>G (p.Leu171Trp) n.579T>G c.35T>G (p.Leu12Trp) n.799T>G | |
| 11 | g.94478776A>G | CA382377384 | MRE11 | c.503T>C (p.Leu168Ser) c.512T>C (p.Leu171Ser) n.579T>C c.35T>C (p.Leu12Ser) n.799T>C | |
| 11 | g.94478776A>T | CA382377382 | MRE11 | c.503T>A (p.Leu168Ter) c.512T>A (p.Leu171Ter) n.579T>A c.35T>A (p.Leu12Ter) n.799T>A | |
| 11 | g.94478777A>C | CA382377388 | MRE11 | c.502T>G (p.Leu168Val) c.511T>G (p.Leu171Val) n.578T>G c.34T>G (p.Leu12Val) n.798T>G | |
| 11 | g.94478777A>G | CA476286862 | MRE11 | c.502T>C (p.Leu168=) c.511T>C (p.Leu171=) n.578T>C c.34T>C (p.Leu12=) n.798T>C | |
| 11 | g.94478777A>T | CA382377390 | MRE11 | c.502T>A (p.Leu168Met) c.511T>A (p.Leu171Met) n.578T>A c.34T>A (p.Leu12Met) n.798T>A | |
| 11 | g.94478778A>C | CA476286863 | MRE11 | c.501T>G (p.Val167=) c.510T>G (p.Val170=) n.577T>G c.33T>G (p.Val11=) n.797T>G | |
| 11 | g.94478778A>G | CA476286864 | MRE11 | c.501T>C (p.Val167=) c.510T>C (p.Val170=) n.577T>C c.33T>C (p.Val11=) n.797T>C | |
| 11 | g.94478778A>T | CA476286865 | MRE11 | c.501T>A (p.Val167=) c.510T>A (p.Val170=) n.577T>A c.33T>A (p.Val11=) n.797T>A | |
| 11 | g.94478779A>C | CA382377392 | MRE11 | c.500T>G (p.Val167Gly) c.509T>G (p.Val170Gly) n.576T>G c.32T>G (p.Val11Gly) n.796T>G | |
| 11 | g.94478779A>G | CA382377393 | MRE11 | c.500T>C (p.Val167Ala) c.509T>C (p.Val170Ala) n.576T>C c.32T>C (p.Val11Ala) n.796T>C | |
| 11 | g.94478779A>T | CA382377395 | MRE11 | c.500T>A (p.Val167Asp) c.509T>A (p.Val170Asp) n.576T>A c.32T>A (p.Val11Asp) n.796T>A | |
| 11 | g.94478780C>A | CA382377398 | MRE11 | c.499G>T (p.Val167Phe) c.508G>T (p.Val170Phe) n.575G>T c.31G>T (p.Val11Phe) n.795G>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.94478780C= | CA1992436643 | MRE11 | c.499G= (p.Val167=) c.508G= (p.Val170=) n.575G= c.31G= (p.Val11=) n.795G= | |
| 11 | g.94478780C>G | CA382377399 | MRE11 | c.499G>C (p.Val167Leu) c.508G>C (p.Val170Leu) n.575G>C c.31G>C (p.Val11Leu) n.795G>C | |
| 11 | g.94478780C>T | CA382377401 | MRE11 | c.499G>A (p.Val167Ile) c.508G>A (p.Val170Ile) n.575G>A c.31G>A (p.Val11Ile) n.795G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.94478781C>A | CA476286866 | MRE11 | c.498G>T (p.Pro166=) c.507G>T (p.Pro169=) n.574G>T c.30G>T (p.Pro10=) n.794G>T | ClinVar dbSNP |
| 11 | g.94478781C= | CA1992436657 | MRE11 | c.498G= (p.Pro166=) c.507G= (p.Pro169=) n.574G= c.30G= (p.Pro10=) n.794G= | |
| 11 | g.94478781C>G | CA476286867 | MRE11 | c.498G>C (p.Pro166=) c.507G>C (p.Pro169=) n.574G>C c.30G>C (p.Pro10=) n.794G>C | dbSNP |