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.7674225_7674248del | CA000355 | TP53 | c.718_741del (p.Ser240_Asn247del) c.322_345del (p.Ser108_Asn115del) c.439_462del (p.Ser147_Asn154del) c.697_720del (p.Ser233_Asn240del) c.601_624del (p.Ser201_Asn208del) c.241_264del (p.Ser81_Asn88del) c.685_708del (p.Ser229_Asn236del) | ClinVar dbSNP |
| 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.7674226_7674247delinsATGCCGCCCATGCAGGAACTGT | CA2245951528 | TP53 | c.716_737delinsACAGTTCCTGCATGGGCGGCAT (p.Asn239=) c.320_341delinsACAGTTCCTGCATGGGCGGCAT (p.Asn107=) c.437_458delinsACAGTTCCTGCATGGGCGGCAT (p.Asn146=) c.695_716delinsACAGTTCCTGCATGGGCGGCAT (p.Asn232=) c.599_620delinsACAGTTCCTGCATGGGCGGCAT (p.Asn200=) c.239_260delinsACAGTTCCTGCATGGGCGGCAT (p.Asn80=) c.683_704delinsACAGTTCCTGCATGGGCGGCAT (p.Asn228=) | |
| 17 | g.7674228_7674248del | CA10580925 | TP53 | c.716_736del (p.Asn239_Gly245del) c.320_340del (p.Asn107_Gly113del) c.437_457del (p.Asn146_Gly152del) c.695_715del (p.Asn232_Gly238del) c.599_619del (p.Asn200_Gly206del) c.239_259del (p.Asn80_Gly86del) c.683_703del (p.Asn228_Gly234del) | ClinVar dbSNP |
| 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.7674236_7674248del | CA645588596 | TP53 | c.715_727del (p.Asn239TrpfsTer4) c.319_331del (p.Asn107TrpfsTer4) c.436_448del (p.Asn146TrpfsTer4) c.694_706del (p.Asn232TrpfsTer4) c.598_610del (p.Asn200TrpfsTer4) c.238_250del (p.Asn80TrpfsTer4) c.682_694del (p.Asn228TrpfsTer4) | COSMIC |
| 17 | g.7674237_7674248del | CA645588594 | TP53 | c.716_727del (p.Asn239_Cys242del) c.320_331del (p.Asn107_Cys110del) c.437_448del (p.Asn146_Cys149del) c.695_706del (p.Asn232_Cys235del) c.599_610del (p.Asn200_Cys203del) c.239_250del (p.Asn80_Cys83del) c.683_694del (p.Asn228_Cys231del) | COSMIC |
| 17 | g.7674236_7674250del | CA2739265551 | TP53 | c.713_727del (p.Cys238_Met243delinsLeu) c.317_331del (p.Cys106_Met111delinsLeu) c.434_448del (p.Cys145_Met150delinsLeu) c.692_706del (p.Cys231_Met236delinsLeu) c.596_610del (p.Cys199_Met204delinsLeu) c.236_250del (p.Cys79_Met84delinsLeu) c.680_694del (p.Cys227_Met232delinsLeu) | ClinVar |
| 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.7674238_7674248delinsCAGGAACTGTT | CA2245951957 | TP53 | c.715_725delinsAACAGTTCCTG (p.Asn239=) c.319_329delinsAACAGTTCCTG (p.Asn107=) c.436_446delinsAACAGTTCCTG (p.Asn146=) c.694_704delinsAACAGTTCCTG (p.Asn232=) c.598_608delinsAACAGTTCCTG (p.Asn200=) c.238_248delinsAACAGTTCCTG (p.Asn80=) c.682_692delinsAACAGTTCCTG (p.Asn228=) | |
| 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.7674239_7674247del | CA645588604 | TP53 | c.716_724del (p.Asn239_Cys242delinsSer) c.320_328del (p.Asn107_Cys110delinsSer) c.437_445del (p.Asn146_Cys149delinsSer) c.695_703del (p.Asn232_Cys235delinsSer) c.599_607del (p.Asn200_Cys203delinsSer) c.239_247del (p.Asn80_Cys83delinsSer) c.683_691del (p.Asn228_Cys231delinsSer) | COSMIC |
| 17 | g.7674240_7674249del | CA658656524 | TP53 | c.715_724del (p.Asn239AlafsTer5) c.319_328del (p.Asn107AlafsTer5) c.436_445del (p.Asn146AlafsTer5) c.694_703del (p.Asn232AlafsTer5) c.598_607del (p.Asn200AlafsTer5) c.238_247del (p.Asn80AlafsTer5) c.682_691del (p.Asn228AlafsTer5) | ClinVar dbSNP |
| 17 | g.7674241_7674247del | CA2573154658 | TP53 | c.716_722del (p.Asn239ThrfsTer6) c.320_326del (p.Asn107ThrfsTer6) c.437_443del (p.Asn146ThrfsTer6) c.695_701del (p.Asn232ThrfsTer6) c.599_605del (p.Asn200ThrfsTer6) c.239_245del (p.Asn80ThrfsTer6) c.683_689del (p.Asn228ThrfsTer6) | dbSNP |
| 17 | g.7674241_7674247delinsGAACTGT | CA2245952020 | TP53 | c.716_722delinsACAGTTC (p.Asn239=) c.320_326delinsACAGTTC (p.Asn107=) c.437_443delinsACAGTTC (p.Asn146=) c.695_701delinsACAGTTC (p.Asn232=) c.599_605delinsACAGTTC (p.Asn200=) c.239_245delinsACAGTTC (p.Asn80=) c.683_689delinsACAGTTC (p.Asn228=) | |
| 17 | g.7674241_7674248del | CA645588607 | TP53 | c.715_722del (p.Asn239LeufsTer22) c.319_326del (p.Asn107LeufsTer22) c.436_443del (p.Asn146LeufsTer22) c.694_701del (p.Asn232LeufsTer22) c.715_722del (p.Asn239LeufsTer?) c.436_443del (p.Asn146LeufsTer?) c.598_605del (p.Asn200LeufsTer22) c.238_245del (p.Asn80LeufsTer22) c.682_689del (p.Asn228LeufsTer22) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674241_7674248delinsA | CA2580094898 | TP53 | c.715_722delinsT (p.Asn239SerfsTer6) c.319_326delinsT (p.Asn107SerfsTer6) c.436_443delinsT (p.Asn146SerfsTer6) c.694_701delinsT (p.Asn232SerfsTer6) c.598_605delinsT (p.Asn200SerfsTer6) c.238_245delinsT (p.Asn80SerfsTer6) c.682_689delinsT (p.Asn228SerfsTer6) | ClinVar |
| 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.7674242_7674247del | CA645588611 | TP53 | c.716_721del (p.Asn239_Ser241delinsThr) c.320_325del (p.Asn107_Ser109delinsThr) c.437_442del (p.Asn146_Ser148delinsThr) c.695_700del (p.Asn232_Ser234delinsThr) c.599_604del (p.Asn200_Ser202delinsThr) c.239_244del (p.Asn80_Ser82delinsThr) c.683_688del (p.Asn228_Ser230delinsThr) | ClinVar dbSNP COSMIC |
| 17 | g.7674243_7674249del | CA645588612 | TP53 | c.715_721del (p.Asn239ProfsTer6) c.319_325del (p.Asn107ProfsTer6) c.436_442del (p.Asn146ProfsTer6) c.694_700del (p.Asn232ProfsTer6) c.598_604del (p.Asn200ProfsTer6) c.238_244del (p.Asn80ProfsTer6) c.682_688del (p.Asn228ProfsTer6) | COSMIC |
| 17 | g.7674245_7674250del | CA645588613 | TP53 | c.715_720del (p.Asn239_Ser240del) c.319_324del (p.Asn107_Ser108del) c.436_441del (p.Asn146_Ser147del) c.694_699del (p.Asn232_Ser233del) c.598_603del (p.Asn200_Ser201del) c.238_243del (p.Asn80_Ser81del) c.682_687del (p.Asn228_Ser229del) | 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.7674244_7674247delinsCTGT | CA2245952075 | TP53 | c.716_719delinsACAG (p.Asn239=) c.320_323delinsACAG (p.Asn107=) c.437_440delinsACAG (p.Asn146=) c.695_698delinsACAG (p.Asn232=) c.599_602delinsACAG (p.Asn200=) c.239_242delinsACAG (p.Asn80=) c.683_686delinsACAG (p.Asn228=) | |
| 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.7674246_7674248dup | CA645588618 | TP53 | c.716_718dup (p.Asn239_Ser240insAsn) c.320_322dup (p.Asn107_Ser108insAsn) c.437_439dup (p.Asn146_Ser147insAsn) c.695_697dup (p.Asn232_Ser233insAsn) c.599_601dup (p.Asn200_Ser201insAsn) c.239_241dup (p.Asn80_Ser81insAsn) c.683_685dup (p.Asn228_Ser229insAsn) | ClinVar dbSNP COSMIC |
| 17 | g.7674245_7674248dup | CA2580094899 | TP53 | c.715_718dup (p.Ser240LysfsTer25) c.319_322dup (p.Ser108LysfsTer25) c.436_439dup (p.Ser147LysfsTer25) c.694_697dup (p.Ser233LysfsTer25) c.715_718dup (p.Ser240LysfsTer?) c.436_439dup (p.Ser147LysfsTer?) c.598_601dup (p.Ser201LysfsTer25) c.238_241dup (p.Ser81LysfsTer25) c.682_685dup (p.Ser229LysfsTer25) | ClinVar |
| 17 | g.7674246_7674248del | CA915949529 | TP53 | c.716_718del (p.Asn239del) c.320_322del (p.Asn107del) c.437_439del (p.Asn146del) c.695_697del (p.Asn232del) c.599_601del (p.Asn200del) c.239_241del (p.Asn80del) c.683_685del (p.Asn228del) | ClinVar dbSNP |
| 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.7674246del | CA2497028707 | TP53 | c.717del (p.Asn239LysfsTer8) c.321del (p.Asn107LysfsTer8) c.438del (p.Asn146LysfsTer8) c.696del (p.Asn232LysfsTer8) c.600del (p.Asn200LysfsTer8) c.240del (p.Asn80LysfsTer8) c.684del (p.Asn228LysfsTer8) | ClinVar |
| 17 | g.7674246G>A | CA497717506 | TP53 | c.717C>T (p.Asn239=) c.321C>T (p.Asn107=) c.438C>T (p.Asn146=) c.696C>T (p.Asn232=) c.600C>T (p.Asn200=) c.240C>T (p.Asn80=) c.684C>T (p.Asn228=) | ClinVar dbSNP COSMIC |
| 17 | g.7674246G>C | CA16607851 | TP53 | c.717C>G (p.Asn239Lys) c.321C>G (p.Asn107Lys) c.438C>G (p.Asn146Lys) c.696C>G (p.Asn232Lys) c.600C>G (p.Asn200Lys) c.240C>G (p.Asn80Lys) c.684C>G (p.Asn228Lys) | ClinVar dbSNP COSMIC |
| 17 | g.7674246G= | CA2245952107 | TP53 | c.717C= (p.Asn239=) c.321C= (p.Asn107=) c.438C= (p.Asn146=) c.696C= (p.Asn232=) c.600C= (p.Asn200=) c.240C= (p.Asn80=) c.684C= (p.Asn228=) | |
| 17 | g.7674246G>T | CA397839156 | TP53 | c.717C>A (p.Asn239Lys) c.321C>A (p.Asn107Lys) c.438C>A (p.Asn146Lys) c.696C>A (p.Asn232Lys) c.600C>A (p.Asn200Lys) c.240C>A (p.Asn80Lys) c.684C>A (p.Asn228Lys) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674246_7674247delinsAC | CA645588625 | TP53 | c.716_717delinsGT (p.Asn239Ser) c.320_321delinsGT (p.Asn107Ser) c.437_438delinsGT (p.Asn146Ser) c.695_696delinsGT (p.Asn232Ser) c.599_600delinsGT (p.Asn200Ser) c.239_240delinsGT (p.Asn80Ser) c.683_684delinsGT (p.Asn228Ser) | COSMIC |
| 17 | g.7674246_7674247delinsGT | CA2245952118 | TP53 | c.716_717delinsAC (p.Asn239=) c.320_321delinsAC (p.Asn107=) c.437_438delinsAC (p.Asn146=) c.695_696delinsAC (p.Asn232=) c.599_600delinsAC (p.Asn200=) c.239_240delinsAC (p.Asn80=) c.683_684delinsAC (p.Asn228=) | |
| 17 | g.7674246_7674248delinsA | CA645588626 | TP53 | c.715_717delinsT (p.Asn239Ter) c.319_321delinsT (p.Asn107Ter) c.436_438delinsT (p.Asn146Ter) c.694_696delinsT (p.Asn232Ter) c.598_600delinsT (p.Asn200Ter) c.238_240delinsT (p.Asn80Ter) c.682_684delinsT (p.Asn228Ter) | COSMIC |
| 17 | g.7674246_7674248delinsTTA | CA645588627 | TP53 | c.715_717delinsTAA (p.Asn239Ter) c.319_321delinsTAA (p.Asn107Ter) c.436_438delinsTAA (p.Asn146Ter) c.694_696delinsTAA (p.Asn232Ter) c.598_600delinsTAA (p.Asn200Ter) c.238_240delinsTAA (p.Asn80Ter) c.682_684delinsTAA (p.Asn228Ter) | COSMIC |
| 17 | g.7674246_7674250del | CA2759543830 | TP53 | c.713_717del (p.Cys238Ter) c.317_321del (p.Cys106Ter) c.434_438del (p.Cys145Ter) c.692_696del (p.Cys231Ter) c.596_600del (p.Cys199Ter) c.236_240del (p.Cys79Ter) c.680_684del (p.Cys227Ter) | |
| 17 | g.7674246_7674247insA | CA645369702 | TP53 | c.716_717insT (p.Ser240GlnfsTer24) c.320_321insT (p.Ser108GlnfsTer24) c.437_438insT (p.Ser147GlnfsTer24) c.695_696insT (p.Ser233GlnfsTer24) c.716_717insT (p.Ser240GlnfsTer?) c.437_438insT (p.Ser147GlnfsTer?) c.599_600insT (p.Ser201GlnfsTer24) c.239_240insT (p.Ser81GlnfsTer24) c.683_684insT (p.Ser229GlnfsTer24) | ClinVar dbSNP |
| 17 | g.7674247T>A | CA397839160 | TP53 | c.716A>T (p.Asn239Ile) c.320A>T (p.Asn107Ile) c.437A>T (p.Asn146Ile) c.695A>T (p.Asn232Ile) c.599A>T (p.Asn200Ile) c.239A>T (p.Asn80Ile) c.683A>T (p.Asn228Ile) | ClinVar dbSNP COSMIC |
| 17 | g.7674247T>C | CA16603054 | TP53 | c.716A>G (p.Asn239Ser) c.320A>G (p.Asn107Ser) c.437A>G (p.Asn146Ser) c.695A>G (p.Asn232Ser) c.599A>G (p.Asn200Ser) c.239A>G (p.Asn80Ser) c.683A>G (p.Asn228Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674247T>G | CA16603055 | TP53 | c.716A>C (p.Asn239Thr) c.320A>C (p.Asn107Thr) c.437A>C (p.Asn146Thr) c.695A>C (p.Asn232Thr) c.599A>C (p.Asn200Thr) c.239A>C (p.Asn80Thr) c.683A>C (p.Asn228Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674247T= | CA2245952151 | TP53 | c.716A= (p.Asn239=) c.320A= (p.Asn107=) c.437A= (p.Asn146=) c.695A= (p.Asn232=) c.599A= (p.Asn200=) c.239A= (p.Asn80=) c.683A= (p.Asn228=) |