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 |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
| 17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
| 17 | g.7674210_7674287dup | CA2697552064 | TP53 | c.676_753dup (p.Ile251_Leu252insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.280_357dup (p.Ile119_Leu120insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.397_474dup (p.Ile158_Leu159insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.655_732dup (p.Ile244_Leu245insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.559_636dup (p.Ile212_Leu213insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.199_276dup (p.Ile92_Leu93insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.643_720dup (p.Ile240_Leu241insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) | ClinVar |
| 17 | g.7674218_7674967del | CA645588534 | TP53 | c.569_750del c.173_354del c.290_471del c.548_729del c.452_633del c.92_273del c.536_717del | COSMIC COSMIC COSMIC |
| 17 | g.7674224_7674251delinsTCATGCCGCCCATGCAGGAACTGTTACA | CA2245951485 | TP53 | c.712_739delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys238=) c.316_343delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys106=) c.433_460delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys145=) c.691_718delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys231=) c.595_622delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys199=) c.235_262delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys79=) c.679_706delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys227=) | |
| 17 | g.7674229_7674255del | CA645588562 | TP53 | c.712_738del (p.Cys238_Met246del) c.316_342del (p.Cys106_Met114del) c.433_459del (p.Cys145_Met153del) c.691_717del (p.Cys231_Met239del) c.595_621del (p.Cys199_Met207del) c.235_261del (p.Cys79_Met87del) c.679_705del (p.Cys227_Met235del) | ClinVar dbSNP COSMIC |
| 17 | g.7674238_7674255del | CA645588590 | TP53 | c.712_729del (p.Cys238_Met243del) c.316_333del (p.Cys106_Met111del) c.433_450del (p.Cys145_Met150del) c.691_708del (p.Cys231_Met236del) c.595_612del (p.Cys199_Met204del) c.235_252del (p.Cys79_Met84del) c.679_696del (p.Cys227_Met232del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674234_7674257del | CA645588592 | TP53 | c.706_729del (p.Tyr236_Met243del) c.310_333del (p.Tyr104_Met111del) c.427_450del (p.Tyr143_Met150del) c.685_708del (p.Tyr229_Met236del) c.589_612del (p.Tyr197_Met204del) c.229_252del (p.Tyr77_Met84del) c.673_696del (p.Tyr225_Met232del) | COSMIC |
| 17 | g.7674238_7674267del | CA645588599 | TP53 | c.697_726del (p.His233_Cys242del) c.301_330del (p.His101_Cys110del) c.418_447del (p.His140_Cys149del) c.676_705del (p.His226_Cys235del) c.580_609del (p.His194_Cys203del) c.220_249del (p.His74_Cys83del) c.664_693del (p.His222_Cys231del) | COSMIC |
| 17 | g.7674240_7674251del | CA645588602 | TP53 | c.714_725del (p.Asn239_Cys242del) c.318_329del (p.Asn107_Cys110del) c.435_446del (p.Asn146_Cys149del) c.693_704del (p.Asn232_Cys235del) c.597_608del (p.Asn200_Cys203del) c.237_248del (p.Asn80_Cys83del) c.681_692del (p.Asn228_Cys231del) | COSMIC |
| 17 | g.7674240_7674253del | CA645588600 | TP53 | c.712_725del (p.Cys238HisfsTer21) c.316_329del (p.Cys106HisfsTer21) c.433_446del (p.Cys145HisfsTer21) c.691_704del (p.Cys231HisfsTer21) c.712_725del (p.Cys238HisfsTer?) c.433_446del (p.Cys145HisfsTer?) c.595_608del (p.Cys199HisfsTer21) c.235_248del (p.Cys79HisfsTer21) c.679_692del (p.Cys227HisfsTer21) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674242_7674266del | CA645588609 | TP53 | c.698_722del (p.His233ProfsTer6) c.302_326del (p.His101ProfsTer6) c.419_443del (p.His140ProfsTer6) c.677_701del (p.His226ProfsTer6) c.581_605del (p.His194ProfsTer6) c.221_245del (p.His74ProfsTer6) c.665_689del (p.His222ProfsTer6) | COSMIC |
| 17 | g.7674270_7674271insCACTGTTACACATGTAGTTGTAGTGGATG | CA2573154659 | TP53 | c.720_721insGCATCCACTACAACTACATGTGTAACAGT (p.Ser241AlafsTer16) c.324_325insGCATCCACTACAACTACATGTGTAACAGT (p.Ser109AlafsTer16) c.441_442insGCATCCACTACAACTACATGTGTAACAGT (p.Ser148AlafsTer16) c.699_700insGCATCCACTACAACTACATGTGTAACAGT (p.Ser234AlafsTer16) c.603_604insGCATCCACTACAACTACATGTGTAACAGT (p.Ser202AlafsTer16) c.243_244insGCATCCACTACAACTACATGTGTAACAGT (p.Ser82AlafsTer16) c.687_688insGCATCCACTACAACTACATGTGTAACAGT (p.Ser230AlafsTer16) | ClinVar dbSNP |
| 17 | g.7674246_7674292del | CA645588615 | TP53 | c.673_719del c.277_323del c.394_440del c.652_698del c.556_602del c.196_242del c.640_686del | COSMIC |
| 17 | g.7674248_7674256del | CA645588617 | TP53 | c.710_718del (p.Met237_Asn239del) c.314_322del (p.Met105_Asn107del) c.431_439del (p.Met144_Asn146del) c.689_697del (p.Met230_Asn232del) c.593_601del (p.Met198_Asn200del) c.233_241del (p.Met78_Asn80del) c.677_685del (p.Met226_Asn228del) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674247_7674252del | CA645588636 | TP53 | c.711_716del (p.Met237_Asn239delinsIle) c.315_320del (p.Met105_Asn107delinsIle) c.432_437del (p.Met144_Asn146delinsIle) c.690_695del (p.Met230_Asn232delinsIle) c.594_599del (p.Met198_Asn200delinsIle) c.234_239del (p.Met78_Asn80delinsIle) c.678_683del (p.Met226_Asn228delinsIle) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674248_7674261delinsTACACATGTAGTTG | CA2245952177 | TP53 | c.702_715delinsCAACTACATGTGTA (p.Tyr234=) c.306_319delinsCAACTACATGTGTA (p.Tyr102=) c.423_436delinsCAACTACATGTGTA (p.Tyr141=) c.681_694delinsCAACTACATGTGTA (p.Tyr227=) c.585_598delinsCAACTACATGTGTA (p.Tyr195=) c.225_238delinsCAACTACATGTGTA (p.Tyr75=) c.669_682delinsCAACTACATGTGTA (p.Tyr223=) | |
| 17 | g.7674249_7674251del | CA645588641 | TP53 | c.712_714del (p.Cys238del) c.316_318del (p.Cys106del) c.433_435del (p.Cys145del) c.691_693del (p.Cys231del) c.595_597del (p.Cys199del) c.235_237del (p.Cys79del) c.679_681del (p.Cys227del) | COSMIC |
| 17 | g.7674252_7674253del | CA645588640 | TP53 | c.713_714del (p.Cys238Ter) c.317_318del (p.Cys106Ter) c.434_435del (p.Cys145Ter) c.692_693del (p.Cys231Ter) c.596_597del (p.Cys199Ter) c.236_237del (p.Cys79Ter) c.680_681del (p.Cys227Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674249_7674255delinsACACATG | CA2245952213 | TP53 | c.708_714delinsCATGTGT (p.Tyr236=) c.312_318delinsCATGTGT (p.Tyr104=) c.429_435delinsCATGTGT (p.Tyr143=) c.687_693delinsCATGTGT (p.Tyr229=) c.591_597delinsCATGTGT (p.Tyr197=) c.231_237delinsCATGTGT (p.Tyr77=) c.675_681delinsCATGTGT (p.Tyr225=) | |
| 17 | g.7674249_7674261del | CA891844046 | TP53 | c.702_714del (p.Tyr234Ter) c.306_318del (p.Tyr102Ter) c.423_435del (p.Tyr141Ter) c.681_693del (p.Tyr227Ter) c.585_597del (p.Tyr195Ter) c.225_237del (p.Tyr75Ter) c.669_681del (p.Tyr223Ter) | ClinVar dbSNP |
| 17 | g.7674250_7674254del | CA645588642 | TP53 | c.709_713del (p.Met237Ter) c.313_317del (p.Met105Ter) c.430_434del (p.Met144Ter) c.688_692del (p.Met230Ter) c.592_596del (p.Met198Ter) c.232_236del (p.Met78Ter) c.676_680del (p.Met226Ter) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674250_7674255del | CA1139665119 | TP53 | c.708_713del (p.Met237_Cys238del) c.312_317del (p.Met105_Cys106del) c.429_434del (p.Met144_Cys145del) c.687_692del (p.Met230_Cys231del) c.591_596del (p.Met198_Cys199del) c.231_236del (p.Met78_Cys79del) c.675_680del (p.Met226_Cys227del) | ClinVar dbSNP |
| 17 | g.7674250_7674287dup | CA891842242 | TP53 | c.676_713dup (p.Cys238TrpfsTer22) c.280_317dup (p.Cys106TrpfsTer22) c.397_434dup (p.Cys145TrpfsTer22) c.655_692dup (p.Cys231TrpfsTer22) c.559_596dup (p.Cys199TrpfsTer22) c.199_236dup (p.Cys79TrpfsTer22) c.643_680dup (p.Cys227TrpfsTer22) | |
| 17 | g.7674251del | CA497717544 | TP53 | c.712del (p.Cys238ValfsTer9) c.316del (p.Cys106ValfsTer9) c.433del (p.Cys145ValfsTer9) c.691del (p.Cys231ValfsTer9) c.595del (p.Cys199ValfsTer9) c.235del (p.Cys79ValfsTer9) c.679del (p.Cys227ValfsTer9) | COSMIC |
| 17 | g.7674251A= | CA2245952287 | TP53 | c.712T= (p.Cys238=) c.316T= (p.Cys106=) c.433T= (p.Cys145=) c.691T= (p.Cys231=) c.595T= (p.Cys199=) c.235T= (p.Cys79=) c.679T= (p.Cys227=) | |
| 17 | g.7674251A>C | CA16603003 | TP53 | c.712T>G (p.Cys238Gly) c.316T>G (p.Cys106Gly) c.433T>G (p.Cys145Gly) c.691T>G (p.Cys231Gly) c.595T>G (p.Cys199Gly) c.235T>G (p.Cys79Gly) c.679T>G (p.Cys227Gly) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674251A>G | CA16603002 | TP53 | c.712T>C (p.Cys238Arg) c.316T>C (p.Cys106Arg) c.433T>C (p.Cys145Arg) c.691T>C (p.Cys231Arg) c.595T>C (p.Cys199Arg) c.235T>C (p.Cys79Arg) c.679T>C (p.Cys227Arg) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674251A>T | CA397839198 | TP53 | c.712T>A (p.Cys238Ser) c.316T>A (p.Cys106Ser) c.433T>A (p.Cys145Ser) c.691T>A (p.Cys231Ser) c.595T>A (p.Cys199Ser) c.235T>A (p.Cys79Ser) c.679T>A (p.Cys227Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674251dup | CA891842243 | TP53 | c.712dup (p.Cys238LeufsTer2) c.316dup (p.Cys106LeufsTer2) c.433dup (p.Cys145LeufsTer2) c.691dup (p.Cys231LeufsTer2) c.595dup (p.Cys199LeufsTer2) c.235dup (p.Cys79LeufsTer2) c.679dup (p.Cys227LeufsTer2) | |
| 17 | g.7674251_7674252delinsAC | CA2245952294 | TP53 | c.711_712delinsGT (p.Met237=) c.315_316delinsGT (p.Met105=) c.432_433delinsGT (p.Met144=) c.690_691delinsGT (p.Met230=) c.594_595delinsGT (p.Met198=) c.234_235delinsGT (p.Met78=) c.678_679delinsGT (p.Met226=) | |
| 17 | g.7674252_7674257del | CA645588643 | TP53 | c.707_712del (p.Tyr236_Met237del) c.311_316del (p.Tyr104_Met105del) c.428_433del (p.Tyr143_Met144del) c.686_691del (p.Tyr229_Met230del) c.590_595del (p.Tyr197_Met198del) c.230_235del (p.Tyr77_Met78del) c.674_679del (p.Tyr225_Met226del) | COSMIC |
| 17 | g.7674252del | CA915949531 | TP53 | c.711del (p.Met237IlefsTer10) c.315del (p.Met105IlefsTer10) c.432del (p.Met144IlefsTer10) c.690del (p.Met230IlefsTer10) c.594del (p.Met198IlefsTer10) c.234del (p.Met78IlefsTer10) c.678del (p.Met226IlefsTer10) | ClinVar dbSNP |
| 17 | g.7674252C>A | CA287488024 | TP53 | c.711G>T (p.Met237Ile) c.315G>T (p.Met105Ile) c.432G>T (p.Met144Ile) c.690G>T (p.Met230Ile) c.594G>T (p.Met198Ile) c.234G>T (p.Met78Ile) c.678G>T (p.Met226Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674252C= | CA2245952311 | TP53 | c.711G= (p.Met237=) c.315G= (p.Met105=) c.432G= (p.Met144=) c.690G= (p.Met230=) c.594G= (p.Met198=) c.234G= (p.Met78=) c.678G= (p.Met226=) | |
| 17 | g.7674252C>G | CA287488027 | TP53 | c.711G>C (p.Met237Ile) c.315G>C (p.Met105Ile) c.432G>C (p.Met144Ile) c.690G>C (p.Met230Ile) c.594G>C (p.Met198Ile) c.234G>C (p.Met78Ile) c.678G>C (p.Met226Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674252C>T | CA000349 | TP53 | c.711G>A (p.Met237Ile) c.315G>A (p.Met105Ile) c.432G>A (p.Met144Ile) c.690G>A (p.Met230Ile) c.594G>A (p.Met198Ile) c.234G>A (p.Met78Ile) c.678G>A (p.Met226Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674253del | CA497717574 | TP53 | c.710del (p.Met237SerfsTer10) c.314del (p.Met105SerfsTer10) c.431del (p.Met144SerfsTer10) c.689del (p.Met230SerfsTer10) c.593del (p.Met198SerfsTer10) c.233del (p.Met78SerfsTer10) c.677del (p.Met226SerfsTer10) | COSMIC |
| 17 | g.7674253A= | CA2245952341 | TP53 | c.710T= (p.Met237=) c.314T= (p.Met105=) c.431T= (p.Met144=) c.689T= (p.Met230=) c.593T= (p.Met198=) c.233T= (p.Met78=) c.677T= (p.Met226=) | |
| 17 | g.7674253A>C | CA16620621 | TP53 | c.710T>G (p.Met237Arg) c.314T>G (p.Met105Arg) c.431T>G (p.Met144Arg) c.689T>G (p.Met230Arg) c.593T>G (p.Met198Arg) c.233T>G (p.Met78Arg) c.677T>G (p.Met226Arg) | ClinVar dbSNP COSMIC |
| 17 | g.7674253A>G | CA397839214 | TP53 | c.710T>C (p.Met237Thr) c.314T>C (p.Met105Thr) c.431T>C (p.Met144Thr) c.689T>C (p.Met230Thr) c.593T>C (p.Met198Thr) c.233T>C (p.Met78Thr) c.677T>C (p.Met226Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7674253A>T | CA001811 | TP53 | c.710T>A (p.Met237Lys) c.314T>A (p.Met105Lys) c.431T>A (p.Met144Lys) c.689T>A (p.Met230Lys) c.593T>A (p.Met198Lys) c.233T>A (p.Met78Lys) c.677T>A (p.Met226Lys) | ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674253_7674259delinsATGTAGT | CA2245952337 | TP53 | c.704_710delinsACTACAT (p.Asn235=) c.308_314delinsACTACAT (p.Asn103=) c.425_431delinsACTACAT (p.Asn142=) c.683_689delinsACTACAT (p.Asn228=) c.587_593delinsACTACAT (p.Asn196=) c.227_233delinsACTACAT (p.Asn76=) c.671_677delinsACTACAT (p.Asn224=) | |
| 17 | g.7674256_7674270del | CA645588644 | TP53 | c.696_710del (p.Ile232_Tyr236del) c.300_314del (p.Ile100_Tyr104del) c.417_431del (p.Ile139_Tyr143del) c.675_689del (p.Ile225_Tyr229del) c.579_593del (p.Ile193_Tyr197del) c.219_233del (p.Ile73_Tyr77del) c.663_677del (p.Ile221_Tyr225del) | COSMIC |
| 17 | g.7674254del | CA497717587 | TP53 | c.709del (p.Met237CysfsTer10) c.313del (p.Met105CysfsTer10) c.430del (p.Met144CysfsTer10) c.688del (p.Met230CysfsTer10) n.104del c.592del (p.Met198CysfsTer10) c.232del (p.Met78CysfsTer10) c.676del (p.Met226CysfsTer10) | COSMIC |
| 17 | g.7674254T>A | CA397839222 | TP53 | c.709A>T (p.Met237Leu) c.313A>T (p.Met105Leu) c.430A>T (p.Met144Leu) c.688A>T (p.Met230Leu) n.104A>T c.592A>T (p.Met198Leu) c.232A>T (p.Met78Leu) c.676A>T (p.Met226Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674254T>C | CA000348 | TP53 | c.709A>G (p.Met237Val) c.313A>G (p.Met105Val) c.430A>G (p.Met144Val) c.688A>G (p.Met230Val) n.104A>G c.592A>G (p.Met198Val) c.232A>G (p.Met78Val) c.676A>G (p.Met226Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674254T>G | CA397839228 | TP53 | c.709A>C (p.Met237Leu) c.313A>C (p.Met105Leu) c.430A>C (p.Met144Leu) c.688A>C (p.Met230Leu) n.104A>C c.592A>C (p.Met198Leu) c.232A>C (p.Met78Leu) c.676A>C (p.Met226Leu) | ClinVar gnomAD v4 |
| 17 | g.7674254T= | CA2245952363 | TP53 | c.709A= (p.Met237=) c.313A= (p.Met105=) c.430A= (p.Met144=) c.688A= (p.Met230=) n.104A= c.592A= (p.Met198=) c.232A= (p.Met78=) c.676A= (p.Met226=) | |
| 17 | g.7674254_7674255delinsAT | CA645588645 | TP53 | c.708_709delinsAT (p.Tyr236Ter) c.312_313delinsAT (p.Tyr104Ter) c.429_430delinsAT (p.Tyr143Ter) c.687_688delinsAT (p.Tyr229Ter) n.103_104delinsAT c.591_592delinsAT (p.Tyr197Ter) c.231_232delinsAT (p.Tyr77Ter) c.675_676delinsAT (p.Tyr225Ter) | COSMIC |