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.7674861_7676624dup | CA2573130640 | TP53 | c.-28_672dup c.-21-1386_276dup c.-28_393dup c.-28_651dup c.-25-3_672dup n.112_928dup c.-262_555dup c.-145_555dup c.-142-3_555dup | ClinVar |
| 17 | g.7674965_7675432del | CA1139665126 | TP53 | c.376-196_566del c.-21-196_170del c.97-196_287del c.376-217_545del c.-217_170del n.632-196_822del c.259-196_449del c.-298_89del c.341-194_533del | ClinVar |
| 17 | g.7675185_7675222delinsCAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTG | CA2245929617 | TP53 | c.390_427delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu130=) c.-7_31delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG c.111_148delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu37=) c.376-7_406delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG n.646_683delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG c.273_310delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu91=) c.-88_-51delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (n.-88_-51delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG) c.357_394delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu119=) | |
| 17 | g.7675194_7675230del | CA645589135 | TP53 | c.390_426del (p.Asn131CysfsTer27) c.-7_30del c.111_147del (p.Asn38CysfsTer27) c.376-7_405del n.646_682del c.390_426del (p.Asn131CysfsTer?) c.273_309del (p.Asn92CysfsTer27) c.-88_-52del (n.-88_-52del) c.357_393del (p.Asn120CysfsTer27) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675193_7675234del | CA891842263 | TP53 | c.380_421del (p.Ser127_Thr140del) c.-17_25del c.101_142del (p.Ser34_Thr47del) c.376-17_400del n.636_677del c.263_304del (p.Ser88_Thr101del) c.-98_-57del (n.-98_-57del) c.347_388del (p.Ser116_Thr129del) | |
| 17 | g.7675193_7675210del | CA645589151 | TP53 | c.402_419del (p.Cys135_Thr140del) c.6_23del (p.Cys3_Thr8del) c.123_140del (p.Cys42_Thr47del) c.381_398del (p.Cys128_Thr133del) n.658_675del c.285_302del (p.Cys96_Thr101del) c.-76_-59del (n.-76_-59del) c.369_386del (p.Cys124_Thr129del) | COSMIC |
| 17 | g.7675194_7675211del | CA645589154 | TP53 | c.401_418del (p.Phe134_Thr140delinsSer) c.5_22del (p.Phe2_Thr8delinsSer) c.122_139del (p.Phe41_Thr47delinsSer) c.380_397del (p.Phe127_Thr133delinsSer) n.657_674del c.284_301del (p.Phe95_Thr101delinsSer) c.-77_-60del (n.-77_-60del) c.368_385del (p.Phe123_Thr129delinsSer) | COSMIC |
| 17 | g.7675199_7675219dup | CA891842265 | TP53 | c.398_418dup (p.Lys139_Thr140insMetPheCysGlnLeuAlaLys) c.2_22dup (p.Lys7_Thr8insMetPheCysGlnLeuAlaLys) c.119_139dup (p.Lys46_Thr47insMetPheCysGlnLeuAlaLys) c.377_397dup n.654_674dup c.281_301dup (p.Lys100_Thr101insMetPheCysGlnLeuAlaLys) c.-80_-60dup (n.-80_-60dup) c.365_385dup (p.Lys128_Thr129insMetPheCysGlnLeuAlaLys) | |
| 17 | g.7675199_7675219del | CA645589152 | TP53 | c.398_418del (p.Met133_Lys139del) c.2_22del (p.Met1_Lys7del) c.119_139del (p.Met40_Lys46del) c.377_397del n.654_674del c.281_301del (p.Met94_Lys100del) c.-80_-60del (n.-80_-60del) c.365_385del (p.Met122_Lys128del) | COSMIC |
| 17 | g.7675197_7676153del | CA645589160 | TP53 | c.216_415del c.-21-917_19del c.96+229_136del c.216_394del n.472_671del c.99_298del c.216_382del | COSMIC |
| 17 | g.7675198_7675209del | CA645589162 | TP53 | c.403_414del (p.Cys135_Ala138del) c.7_18del (p.Cys3_Ala6del) c.124_135del (p.Cys42_Ala45del) c.382_393del (p.Cys128_Ala131del) n.659_670del c.286_297del (p.Cys96_Ala99del) c.-75_-64del (n.-75_-64del) c.370_381del (p.Cys124_Ala127del) | COSMIC |
| 17 | g.7675202_7675218delinsAGTTGGCAAAACATCTT | CA2245930034 | TP53 | c.394_410delinsAAGATGTTTTGCCAACT (p.Lys132=) c.-3_14delinsAAGATGTTTTGCCAACT c.115_131delinsAAGATGTTTTGCCAACT (p.Lys39=) c.376-3_389delinsAAGATGTTTTGCCAACT n.650_666delinsAAGATGTTTTGCCAACT c.277_293delinsAAGATGTTTTGCCAACT (p.Lys93=) c.-84_-68delinsAAGATGTTTTGCCAACT (n.-84_-68delinsAAGATGTTTTGCCAACT) c.361_377delinsAAGATGTTTTGCCAACT (p.Lys121=) | |
| 17 | g.7675207_7675222del | CA000156 | TP53 | c.394_409del (p.Lys132TrpfsTer?) c.-3_13del c.115_130del (p.Lys39TrpfsTer?) c.376-3_388del n.650_665del c.277_292del (p.Lys93TrpfsTer?) c.-84_-69del (n.-84_-69del) c.361_376del (p.Lys121TrpfsTer?) | ClinVar dbSNP |
| 17 | g.7675205_7675996del | CA645589165 | TP53 | c.375_409del c.-21-758_13del c.96+388_130del c.375_388del n.631_665del c.258_292del c.340+31_376del | COSMIC |
| 17 | g.7675204_7675233del | CA645589167 | TP53 | c.379_408del (p.Ser127_Gln136del) c.-18_12del c.100_129del (p.Ser34_Gln43del) c.376-18_387del n.635_664del c.262_291del (p.Ser88_Gln97del) c.-99_-70del (n.-99_-70del) c.346_375del (p.Ser116_Gln125del) | COSMIC |
| 17 | g.7675206_7675209delinsGGCA | CA2245930116 | TP53 | c.403_406delinsTGCC (p.Cys135=) c.7_10delinsTGCC (p.Cys3=) c.124_127delinsTGCC (p.Cys42=) c.382_385delinsTGCC (p.Cys128=) n.659_662delinsTGCC c.286_289delinsTGCC (p.Cys96=) c.-75_-72delinsTGCC (n.-75_-72delinsTGCC) c.370_373delinsTGCC (p.Cys124=) | |
| 17 | g.7675207_7675209delinsCC | CA645369689 | TP53 | c.403_405delinsGG (p.Cys135GlyfsTer?) c.7_9delinsGG (p.Cys3GlyfsTer?) c.124_126delinsGG (p.Cys42GlyfsTer?) c.382_384delinsGG (p.Cys128GlyfsTer?) n.659_661delinsGG c.286_288delinsGG (p.Cys96GlyfsTer?) c.-75_-73delinsGG (n.-75_-73delinsGG) c.370_372delinsGG (p.Cys124GlyfsTer?) | ClinVar dbSNP |
| 17 | g.7675208_7675210delinsGTG | CA645589173 | TP53 | c.402_404delinsCAC (p.Cys135Thr) c.6_8delinsCAC (p.Cys3Thr) c.123_125delinsCAC (p.Cys42Thr) c.381_383delinsCAC (p.Cys128Thr) n.658_660delinsCAC c.285_287delinsCAC (p.Cys96Thr) c.-76_-74delinsCAC (n.-76_-74delinsCAC) c.369_371delinsCAC (p.Cys124Thr) | COSMIC |
| 17 | g.7675209_7675216del | CA645589172 | TP53 | c.397_404del (p.Met133ProfsTer13) c.1_8del (p.Met1ProfsTer13) c.118_125del (p.Met40ProfsTer13) c.376_383del n.653_660del c.280_287del (p.Met94ProfsTer13) c.-81_-74del (n.-81_-74del) c.364_371del (p.Met122ProfsTer13) | COSMIC |
| 17 | g.7675209A= | CA2245930252 | TP53 | c.403T= (p.Cys135=) c.7T= (p.Cys3=) c.124T= (p.Cys42=) c.382T= (p.Cys128=) n.659T= c.286T= (p.Cys96=) c.-75T= (n.-75T=) c.370T= (p.Cys124=) | |
| 17 | g.7675209A>C | CA16602989 | TP53 | c.403T>G (p.Cys135Gly) c.7T>G (p.Cys3Gly) c.124T>G (p.Cys42Gly) c.382T>G (p.Cys128Gly) n.659T>G c.286T>G (p.Cys96Gly) c.-75T>G (n.-75T>G) c.370T>G (p.Cys124Gly) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675209A>G | CA16602986 | TP53 | c.403T>C (p.Cys135Arg) c.7T>C (p.Cys3Arg) c.124T>C (p.Cys42Arg) c.382T>C (p.Cys128Arg) n.659T>C c.286T>C (p.Cys96Arg) c.-75T>C (n.-75T>C) c.370T>C (p.Cys124Arg) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675209A>T | CA16602988 | TP53 | c.403T>A (p.Cys135Ser) c.7T>A (p.Cys3Ser) c.124T>A (p.Cys42Ser) c.382T>A (p.Cys128Ser) n.659T>A c.286T>A (p.Cys96Ser) c.-75T>A (n.-75T>A) c.370T>A (p.Cys124Ser) | ClinVar dbSNP COSMIC |
| 17 | g.7675212del | CA497925733 | TP53 | c.403del (p.Cys135AlafsTer?) c.7del (p.Cys3AlafsTer?) c.124del (p.Cys42AlafsTer?) c.382del (p.Cys128AlafsTer?) n.659del c.286del (p.Cys96AlafsTer?) c.-75del (n.-75del) c.370del (p.Cys124AlafsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675209_7675242del | CA645589174 | TP53 | c.376-6_403del c.-21-6_7del c.97-6_124del c.376-27_382del c.-27_7del n.632-6_659del c.259-6_286del c.-108_-75del (n.-108_-75del) c.341-4_370del | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675210A= | CA2245930268 | TP53 | c.402T= (p.Phe134=) c.6T= (p.Phe2=) c.123T= (p.Phe41=) c.381T= (p.Phe127=) n.658T= c.285T= (p.Phe95=) c.-76T= (n.-76T=) c.369T= (p.Phe123=) | |
| 17 | g.7675210A>C | CA397842793 | TP53 | c.402T>G (p.Phe134Leu) c.6T>G (p.Phe2Leu) c.123T>G (p.Phe41Leu) c.381T>G (p.Phe127Leu) n.658T>G c.285T>G (p.Phe95Leu) c.-76T>G (n.-76T>G) c.369T>G (p.Phe123Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675210A>G | CA497925734 | TP53 | c.402T>C (p.Phe134=) c.6T>C (p.Phe2=) c.123T>C (p.Phe41=) c.381T>C (p.Phe127=) n.658T>C c.285T>C (p.Phe95=) c.-76T>C (n.-76T>C) c.369T>C (p.Phe123=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675210A>T | CA397842790 | TP53 | c.402T>A (p.Phe134Leu) c.6T>A (p.Phe2Leu) c.123T>A (p.Phe41Leu) c.381T>A (p.Phe127Leu) n.658T>A c.285T>A (p.Phe95Leu) c.-76T>A (n.-76T>A) c.369T>A (p.Phe123Leu) | ClinVar dbSNP COSMIC |
| 17 | g.7675210_7675211delinsCAG | CA2697552120 | TP53 | c.401_402delinsCTG (p.Phe134SerfsTer15) c.5_6delinsCTG (p.Phe2SerfsTer15) c.122_123delinsCTG (p.Phe41SerfsTer15) c.380_381delinsCTG (p.Phe127SerfsTer15) n.657_658delinsCTG c.284_285delinsCTG (p.Phe95SerfsTer15) c.-77_-76delinsCTG (n.-77_-76delinsCTG) c.368_369delinsCTG (p.Phe123SerfsTer15) | ClinVar |
| 17 | g.7675211_7675214del | CA645589176 | TP53 | c.399_402del (p.Met133IlefsTer?) c.3_6del (p.Met1IlefsTer?) c.120_123del (p.Met40IlefsTer?) c.378_381del (p.Met126IlefsTer?) n.655_658del c.282_285del (p.Met94IlefsTer?) c.-79_-76del (n.-79_-76del) c.366_369del (p.Met122IlefsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675211_7675241del | CA645589175 | TP53 | c.376-4_402del c.-21-4_6del c.97-4_123del c.376-25_381del c.-25_6del n.632-4_658del c.259-4_285del c.-106_-76del (n.-106_-76del) c.341-2_369del | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675211A= | CA2245930296 | TP53 | c.401T= (p.Phe134=) c.5T= (p.Phe2=) c.122T= (p.Phe41=) c.380T= (p.Phe127=) n.657T= c.284T= (p.Phe95=) c.-77T= (n.-77T=) c.368T= (p.Phe123=) | |
| 17 | g.7675211A>C | CA002638 | TP53 | c.401T>G (p.Phe134Cys) c.5T>G (p.Phe2Cys) c.122T>G (p.Phe41Cys) c.380T>G (p.Phe127Cys) n.657T>G c.284T>G (p.Phe95Cys) c.-77T>G (n.-77T>G) c.368T>G (p.Phe123Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675211A>G | CA397842806 | TP53 | c.401T>C (p.Phe134Ser) c.5T>C (p.Phe2Ser) c.122T>C (p.Phe41Ser) c.380T>C (p.Phe127Ser) n.657T>C c.284T>C (p.Phe95Ser) c.-77T>C (n.-77T>C) c.368T>C (p.Phe123Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675211A>T | CA397842807 | TP53 | c.401T>A (p.Phe134Tyr) c.5T>A (p.Phe2Tyr) c.122T>A (p.Phe41Tyr) c.380T>A (p.Phe127Tyr) n.657T>A c.284T>A (p.Phe95Tyr) c.-77T>A (n.-77T>A) c.368T>A (p.Phe123Tyr) | ClinVar dbSNP |
| 17 | g.7675211_7675215del | CA2635872523 | TP53 | c.397_401del (p.Met133LeufsTer14) c.1_5del (p.Met1LeufsTer14) c.118_122del (p.Met40LeufsTer14) c.376_380del (p.Met126LeufsTer14) n.653_657del c.280_284del (p.Met94LeufsTer14) c.-81_-77del (n.-81_-77del) c.364_368del (p.Met122LeufsTer14) | gnomAD v4 |
| 17 | g.7675212_7675233del | CA645589177 | TP53 | c.380_401del (p.Ser127PhefsTer?) c.-17_5del c.101_122del (p.Ser34PhefsTer?) c.376-17_380del n.636_657del c.263_284del (p.Ser88PhefsTer?) c.-98_-77del (n.-98_-77del) c.347_368del (p.Ser116PhefsTer?) | COSMIC |
| 17 | g.7675211_7675212insC | CA658683992 | TP53 | c.400_401insG (p.Phe134CysfsTer15) c.4_5insG (p.Phe2CysfsTer15) c.121_122insG (p.Phe41CysfsTer15) c.379_380insG (p.Phe127CysfsTer15) n.656_657insG c.283_284insG (p.Phe95CysfsTer15) c.-78_-77insG (n.-78_-77insG) c.367_368insG (p.Phe123CysfsTer15) | ClinVar dbSNP |
| 17 | g.7675212A= | CA2245930330 | TP53 | c.400T= (p.Phe134=) c.4T= (p.Phe2=) c.121T= (p.Phe41=) c.379T= (p.Phe127=) n.656T= c.283T= (p.Phe95=) c.-78T= (n.-78T=) c.367T= (p.Phe123=) | |
| 17 | g.7675212A>C | CA397842830 | TP53 | c.400T>G (p.Phe134Val) c.4T>G (p.Phe2Val) c.121T>G (p.Phe41Val) c.379T>G (p.Phe127Val) n.656T>G c.283T>G (p.Phe95Val) c.-78T>G (n.-78T>G) c.367T>G (p.Phe123Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675212A>G | CA287488689 | TP53 | c.400T>C (p.Phe134Leu) c.4T>C (p.Phe2Leu) c.121T>C (p.Phe41Leu) c.379T>C (p.Phe127Leu) n.656T>C c.283T>C (p.Phe95Leu) c.-78T>C (n.-78T>C) c.367T>C (p.Phe123Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675212A>T | CA397842840 | TP53 | c.400T>A (p.Phe134Ile) c.4T>A (p.Phe2Ile) c.121T>A (p.Phe41Ile) c.379T>A (p.Phe127Ile) n.656T>A c.283T>A (p.Phe95Ile) c.-78T>A (n.-78T>A) c.367T>A (p.Phe123Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675213C>A | CA397842845 | TP53 | c.399G>T (p.Met133Ile) c.3G>T (p.Met1Ile) c.120G>T (p.Met40Ile) c.378G>T (p.Met126Ile) n.655G>T c.282G>T (p.Met94Ile) c.-79G>T (n.-79G>T) c.366G>T (p.Met122Ile) | COSMIC |
| 17 | g.7675213C= | CA2245930359 | TP53 | c.399G= (p.Met133=) c.3G= (p.Met1=) c.120G= (p.Met40=) c.378G= (p.Met126=) n.655G= c.282G= (p.Met94=) c.-79G= (n.-79G=) c.366G= (p.Met122=) | |
| 17 | g.7675213C>G | CA397842844 | TP53 | c.399G>C (p.Met133Ile) c.3G>C (p.Met1Ile) c.120G>C (p.Met40Ile) c.378G>C (p.Met126Ile) n.655G>C c.282G>C (p.Met94Ile) c.-79G>C (n.-79G>C) c.366G>C (p.Met122Ile) | dbSNP |
| 17 | g.7675213C>T | CA16620633 | TP53 | c.399G>A (p.Met133Ile) c.3G>A (p.Met1Ile) c.120G>A (p.Met40Ile) c.378G>A (p.Met126Ile) n.655G>A c.282G>A (p.Met94Ile) c.-79G>A (n.-79G>A) c.366G>A (p.Met122Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7675214del | CA497925739 | TP53 | c.398del (p.Met133SerfsTer?) c.2del (p.Met1SerfsTer?) c.119del (p.Met40SerfsTer?) c.377del (p.Met126SerfsTer?) n.654del c.281del (p.Met94SerfsTer?) c.-80del (n.-80del) c.365del (p.Met122SerfsTer?) | COSMIC |