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 |
|---|---|---|---|---|---|
| 14 | g.24081272del | CA613319079 | NRL | c.681del (p.Ser229ProfsTer?) c.264del (p.Ser90ProfsTer?) c.780del (p.Ser262ProfsTer?) c.465del (p.Ser157ProfsTer?) c.366del (p.Ser124ProfsTer?) c.987del (p.Ser331ProfsTer?) c.672del (p.Ser226ProfsTer?) | gnomAD v2 gnomAD v4 |
| 14 | g.24081272G>A | CA485775443 | NRL | c.678C>T (p.Gly226=) c.261C>T (p.Gly87=) c.777C>T (p.Gly259=) c.462C>T (p.Gly154=) c.363C>T (p.Gly121=) c.984C>T (p.Gly328=) c.669C>T (p.Gly223=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081272G>C | CA485775444 | NRL | c.678C>G (p.Gly226=) c.261C>G (p.Gly87=) c.777C>G (p.Gly259=) c.462C>G (p.Gly154=) c.363C>G (p.Gly121=) c.984C>G (p.Gly328=) c.669C>G (p.Gly223=) | gnomAD v4 |
| 14 | g.24081272G= | CA2123777229 | NRL | c.678C= (p.Gly226=) c.261C= (p.Gly87=) c.777C= (p.Gly259=) c.462C= (p.Gly154=) c.363C= (p.Gly121=) c.984C= (p.Gly328=) c.669C= (p.Gly223=) | |
| 14 | g.24081272G>T | CA485775445 | NRL | c.678C>A (p.Gly226=) c.261C>A (p.Gly87=) c.777C>A (p.Gly259=) c.462C>A (p.Gly154=) c.363C>A (p.Gly121=) c.984C>A (p.Gly328=) c.669C>A (p.Gly223=) | gnomAD v4 |
| 14 | g.24081273C>A | CA389276210 | NRL | c.677G>T (p.Gly226Val) c.260G>T (p.Gly87Val) c.776G>T (p.Gly259Val) c.461G>T (p.Gly154Val) c.362G>T (p.Gly121Val) c.983G>T (p.Gly328Val) c.668G>T (p.Gly223Val) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081273C= | CA2123777235 | NRL | c.677G= (p.Gly226=) c.260G= (p.Gly87=) c.776G= (p.Gly259=) c.461G= (p.Gly154=) c.362G= (p.Gly121=) c.983G= (p.Gly328=) c.668G= (p.Gly223=) | |
| 14 | g.24081273C>G | CA389276213 | NRL | c.677G>C (p.Gly226Ala) c.260G>C (p.Gly87Ala) c.776G>C (p.Gly259Ala) c.461G>C (p.Gly154Ala) c.362G>C (p.Gly121Ala) c.983G>C (p.Gly328Ala) c.668G>C (p.Gly223Ala) | |
| 14 | g.24081273C>T | CA389276214 | NRL | c.677G>A (p.Gly226Asp) c.260G>A (p.Gly87Asp) c.776G>A (p.Gly259Asp) c.461G>A (p.Gly154Asp) c.362G>A (p.Gly121Asp) c.983G>A (p.Gly328Asp) c.668G>A (p.Gly223Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081274C>A | CA389276216 | NRL | c.676G>T (p.Gly226Cys) c.259G>T (p.Gly87Cys) c.775G>T (p.Gly259Cys) c.460G>T (p.Gly154Cys) c.361G>T (p.Gly121Cys) c.982G>T (p.Gly328Cys) c.667G>T (p.Gly223Cys) | gnomAD v4 |
| 14 | g.24081274C= | CA2123777236 | NRL | c.676G= (p.Gly226=) c.259G= (p.Gly87=) c.775G= (p.Gly259=) c.460G= (p.Gly154=) c.361G= (p.Gly121=) c.982G= (p.Gly328=) c.667G= (p.Gly223=) | |
| 14 | g.24081274C>G | CA389276219 | NRL | c.676G>C (p.Gly226Arg) c.259G>C (p.Gly87Arg) c.775G>C (p.Gly259Arg) c.460G>C (p.Gly154Arg) c.361G>C (p.Gly121Arg) c.982G>C (p.Gly328Arg) c.667G>C (p.Gly223Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081274C>T | CA389276217 | NRL | c.676G>A (p.Gly226Ser) c.259G>A (p.Gly87Ser) c.775G>A (p.Gly259Ser) c.460G>A (p.Gly154Ser) c.361G>A (p.Gly121Ser) c.982G>A (p.Gly328Ser) c.667G>A (p.Gly223Ser) | dbSNP gnomAD v4 |
| 14 | g.24081275G>A | CA7122815 | NRL | c.675C>T (p.Ser225=) c.258C>T (p.Ser86=) c.774C>T (p.Ser258=) c.459C>T (p.Ser153=) c.360C>T (p.Ser120=) c.981C>T (p.Ser327=) c.666C>T (p.Ser222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081275G>C | CA389276225 | NRL | c.675C>G (p.Ser225Arg) c.258C>G (p.Ser86Arg) c.774C>G (p.Ser258Arg) c.459C>G (p.Ser153Arg) c.360C>G (p.Ser120Arg) c.981C>G (p.Ser327Arg) c.666C>G (p.Ser222Arg) | |
| 14 | g.24081275G= | CA2123777240 | NRL | c.675C= (p.Ser225=) c.258C= (p.Ser86=) c.774C= (p.Ser258=) c.459C= (p.Ser153=) c.360C= (p.Ser120=) c.981C= (p.Ser327=) c.666C= (p.Ser222=) | |
| 14 | g.24081275G>T | CA389276224 | NRL | c.675C>A (p.Ser225Arg) c.258C>A (p.Ser86Arg) c.774C>A (p.Ser258Arg) c.459C>A (p.Ser153Arg) c.360C>A (p.Ser120Arg) c.981C>A (p.Ser327Arg) c.666C>A (p.Ser222Arg) | gnomAD v4 |
| 14 | g.24081276C>A | CA389276226 | NRL | c.674G>T (p.Ser225Ile) c.257G>T (p.Ser86Ile) c.773G>T (p.Ser258Ile) c.458G>T (p.Ser153Ile) c.359G>T (p.Ser120Ile) c.980G>T (p.Ser327Ile) c.665G>T (p.Ser222Ile) | gnomAD v4 |
| 14 | g.24081276C= | CA2123777248 | NRL | c.674G= (p.Ser225=) c.257G= (p.Ser86=) c.773G= (p.Ser258=) c.458G= (p.Ser153=) c.359G= (p.Ser120=) c.980G= (p.Ser327=) c.665G= (p.Ser222=) | |
| 14 | g.24081276C>G | CA389276227 | NRL | c.674G>C (p.Ser225Thr) c.257G>C (p.Ser86Thr) c.773G>C (p.Ser258Thr) c.458G>C (p.Ser153Thr) c.359G>C (p.Ser120Thr) c.980G>C (p.Ser327Thr) c.665G>C (p.Ser222Thr) | |
| 14 | g.24081276C>T | CA389276228 | NRL | c.674G>A (p.Ser225Asn) c.257G>A (p.Ser86Asn) c.773G>A (p.Ser258Asn) c.458G>A (p.Ser153Asn) c.359G>A (p.Ser120Asn) c.980G>A (p.Ser327Asn) c.665G>A (p.Ser222Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081277T>A | CA389276234 | NRL | c.673A>T (p.Ser225Cys) c.256A>T (p.Ser86Cys) c.772A>T (p.Ser258Cys) c.457A>T (p.Ser153Cys) c.358A>T (p.Ser120Cys) c.979A>T (p.Ser327Cys) c.664A>T (p.Ser222Cys) | |
| 14 | g.24081277T>C | CA389276237 | NRL | c.673A>G (p.Ser225Gly) c.256A>G (p.Ser86Gly) c.772A>G (p.Ser258Gly) c.457A>G (p.Ser153Gly) c.358A>G (p.Ser120Gly) c.979A>G (p.Ser327Gly) c.664A>G (p.Ser222Gly) | gnomAD v4 |
| 14 | g.24081277T>G | CA389276240 | NRL | c.673A>C (p.Ser225Arg) c.256A>C (p.Ser86Arg) c.772A>C (p.Ser258Arg) c.457A>C (p.Ser153Arg) c.358A>C (p.Ser120Arg) c.979A>C (p.Ser327Arg) c.664A>C (p.Ser222Arg) | |
| 14 | g.24081277_24081278insA | CA2800892056 | NRL | c.672_673insT (p.Ser225Ter) c.255_256insT (p.Ser86Ter) c.771_772insT (p.Ser258Ter) c.456_457insT (p.Ser153Ter) c.357_358insT (p.Ser120Ter) c.978_979insT (p.Ser327Ter) c.663_664insT (p.Ser222Ter) | |
| 14 | g.24081278C>A | CA485775446 | NRL | c.672G>T (p.Ser224=) c.255G>T (p.Ser85=) c.771G>T (p.Ser257=) c.456G>T (p.Ser152=) c.357G>T (p.Ser119=) c.978G>T (p.Ser326=) c.663G>T (p.Ser221=) | gnomAD v4 |
| 14 | g.24081278C= | CA2123777251 | NRL | c.672G= (p.Ser224=) c.255G= (p.Ser85=) c.771G= (p.Ser257=) c.456G= (p.Ser152=) c.357G= (p.Ser119=) c.978G= (p.Ser326=) c.663G= (p.Ser221=) | |
| 14 | g.24081278C>G | CA485775447 | NRL | c.672G>C (p.Ser224=) c.255G>C (p.Ser85=) c.771G>C (p.Ser257=) c.456G>C (p.Ser152=) c.357G>C (p.Ser119=) c.978G>C (p.Ser326=) c.663G>C (p.Ser221=) | dbSNP |
| 14 | g.24081278C>T | CA485775448 | NRL | c.672G>A (p.Ser224=) c.255G>A (p.Ser85=) c.771G>A (p.Ser257=) c.456G>A (p.Ser152=) c.357G>A (p.Ser119=) c.978G>A (p.Ser326=) c.663G>A (p.Ser221=) | |
| 14 | g.24081279G>A | CA389276243 | NRL | c.671C>T (p.Ser224Leu) c.254C>T (p.Ser85Leu) c.770C>T (p.Ser257Leu) c.455C>T (p.Ser152Leu) c.356C>T (p.Ser119Leu) c.977C>T (p.Ser326Leu) c.662C>T (p.Ser221Leu) | gnomAD v4 |
| 14 | g.24081279G>C | CA389276245 | NRL | c.671C>G (p.Ser224Trp) c.254C>G (p.Ser85Trp) c.770C>G (p.Ser257Trp) c.455C>G (p.Ser152Trp) c.356C>G (p.Ser119Trp) c.977C>G (p.Ser326Trp) c.662C>G (p.Ser221Trp) | ClinVar |
| 14 | g.24081279G= | CA2123777257 | NRL | c.671C= (p.Ser224=) c.254C= (p.Ser85=) c.770C= (p.Ser257=) c.455C= (p.Ser152=) c.356C= (p.Ser119=) c.977C= (p.Ser326=) c.662C= (p.Ser221=) | |
| 14 | g.24081279G>T | CA389276253 | NRL | c.671C>A (p.Ser224Ter) c.254C>A (p.Ser85Ter) c.770C>A (p.Ser257Ter) c.455C>A (p.Ser152Ter) c.356C>A (p.Ser119Ter) c.977C>A (p.Ser326Ter) c.662C>A (p.Ser221Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081280A= | CA2123777258 | NRL | c.670T= (p.Ser224=) c.253T= (p.Ser85=) c.769T= (p.Ser257=) c.454T= (p.Ser152=) c.355T= (p.Ser119=) c.976T= (p.Ser326=) c.661T= (p.Ser221=) | |
| 14 | g.24081280A>C | CA389276257 | NRL | c.670T>G (p.Ser224Ala) c.253T>G (p.Ser85Ala) c.769T>G (p.Ser257Ala) c.454T>G (p.Ser152Ala) c.355T>G (p.Ser119Ala) c.976T>G (p.Ser326Ala) c.661T>G (p.Ser221Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081280A>G | CA389276271 | NRL | c.670T>C (p.Ser224Pro) c.253T>C (p.Ser85Pro) c.769T>C (p.Ser257Pro) c.454T>C (p.Ser152Pro) c.355T>C (p.Ser119Pro) c.976T>C (p.Ser326Pro) c.661T>C (p.Ser221Pro) | gnomAD v4 |
| 14 | g.24081280A>T | CA389276273 | NRL | c.670T>A (p.Ser224Thr) c.253T>A (p.Ser85Thr) c.769T>A (p.Ser257Thr) c.454T>A (p.Ser152Thr) c.355T>A (p.Ser119Thr) c.976T>A (p.Ser326Thr) c.661T>A (p.Ser221Thr) | gnomAD v4 |
| 14 | g.24081281G>A | CA485775449 | NRL | c.669C>T (p.Thr223=) c.252C>T (p.Thr84=) c.768C>T (p.Thr256=) c.453C>T (p.Thr151=) c.354C>T (p.Thr118=) c.975C>T (p.Thr325=) c.660C>T (p.Thr220=) | dbSNP gnomAD v4 |
| 14 | g.24081281G>C | CA485775450 | NRL | c.669C>G (p.Thr223=) c.252C>G (p.Thr84=) c.768C>G (p.Thr256=) c.453C>G (p.Thr151=) c.354C>G (p.Thr118=) c.975C>G (p.Thr325=) c.660C>G (p.Thr220=) | |
| 14 | g.24081281G= | CA2123777261 | NRL | c.669C= (p.Thr223=) c.252C= (p.Thr84=) c.768C= (p.Thr256=) c.453C= (p.Thr151=) c.354C= (p.Thr118=) c.975C= (p.Thr325=) c.660C= (p.Thr220=) | |
| 14 | g.24081281G>T | CA485775451 | NRL | c.669C>A (p.Thr223=) c.252C>A (p.Thr84=) c.768C>A (p.Thr256=) c.453C>A (p.Thr151=) c.354C>A (p.Thr118=) c.975C>A (p.Thr325=) c.660C>A (p.Thr220=) | gnomAD v4 |
| 14 | g.24081282G>A | CA7122816 | NRL | c.668C>T (p.Thr223Ile) c.251C>T (p.Thr84Ile) c.767C>T (p.Thr256Ile) c.452C>T (p.Thr151Ile) c.353C>T (p.Thr118Ile) c.974C>T (p.Thr325Ile) c.659C>T (p.Thr220Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081282G>C | CA389276274 | NRL | c.668C>G (p.Thr223Ser) c.251C>G (p.Thr84Ser) c.767C>G (p.Thr256Ser) c.452C>G (p.Thr151Ser) c.353C>G (p.Thr118Ser) c.974C>G (p.Thr325Ser) c.659C>G (p.Thr220Ser) | gnomAD v4 |
| 14 | g.24081282G= | CA2123777269 | NRL | c.668C= (p.Thr223=) c.251C= (p.Thr84=) c.767C= (p.Thr256=) c.452C= (p.Thr151=) c.353C= (p.Thr118=) c.974C= (p.Thr325=) c.659C= (p.Thr220=) | |
| 14 | g.24081282G>T | CA389276275 | NRL | c.668C>A (p.Thr223Asn) c.251C>A (p.Thr84Asn) c.767C>A (p.Thr256Asn) c.452C>A (p.Thr151Asn) c.353C>A (p.Thr118Asn) c.974C>A (p.Thr325Asn) c.659C>A (p.Thr220Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081283T>A | CA389276280 | NRL | c.667A>T (p.Thr223Ser) c.250A>T (p.Thr84Ser) c.766A>T (p.Thr256Ser) c.451A>T (p.Thr151Ser) c.352A>T (p.Thr118Ser) c.973A>T (p.Thr325Ser) c.658A>T (p.Thr220Ser) | |
| 14 | g.24081283T>C | CA389276292 | NRL | c.667A>G (p.Thr223Ala) c.250A>G (p.Thr84Ala) c.766A>G (p.Thr256Ala) c.451A>G (p.Thr151Ala) c.352A>G (p.Thr118Ala) c.973A>G (p.Thr325Ala) c.658A>G (p.Thr220Ala) | gnomAD v4 |
| 14 | g.24081283T>G | CA389276293 | NRL | c.667A>C (p.Thr223Pro) c.250A>C (p.Thr84Pro) c.766A>C (p.Thr256Pro) c.451A>C (p.Thr151Pro) c.352A>C (p.Thr118Pro) c.973A>C (p.Thr325Pro) c.658A>C (p.Thr220Pro) | |
| 14 | g.24081284T>A | CA485775452 | NRL | c.666A>T (p.Leu222=) c.249A>T (p.Leu83=) c.765A>T (p.Leu255=) c.450A>T (p.Leu150=) c.351A>T (p.Leu117=) c.972A>T (p.Leu324=) c.657A>T (p.Leu219=) | |
| 14 | g.24081284T>C | CA485775453 | NRL | c.666A>G (p.Leu222=) c.249A>G (p.Leu83=) c.765A>G (p.Leu255=) c.450A>G (p.Leu150=) c.351A>G (p.Leu117=) c.972A>G (p.Leu324=) c.657A>G (p.Leu219=) | gnomAD v4 |