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.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.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.7674875_7674976dup | CA2580094939 | TP53 | c.560-3_658dup c.164-3_262dup c.281-3_379dup c.539-3_637dup n.816-3_914dup n.67+79_67+180dup c.443-3_541dup c.83-3_181dup c.527-3_625dup | ClinVar |
| 17 | g.7674899_7674947del | CA645588763 | TP53 | c.585_633del (p.Arg196PhefsTer?) c.189_237del (p.Arg64PhefsTer?) c.306_354del (p.Arg103PhefsTer?) c.564_612del (p.Arg189PhefsTer?) n.841_889del n.67+107_67+155del c.468_516del (p.Arg157PhefsTer?) c.108_156del (p.Arg37PhefsTer?) c.552_600del (p.Arg185PhefsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674932_7674950del | CA645588797 | TP53 | c.583_601del (p.Ile195CysfsTer?) c.187_205del (p.Ile63CysfsTer?) c.304_322del (p.Ile102CysfsTer?) c.562_580del (p.Ile188CysfsTer?) n.839_857del n.67+105_67+123del c.466_484del (p.Ile156CysfsTer?) c.106_124del (p.Ile36CysfsTer?) c.550_568del (p.Ile184CysfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674933_7674946del | CA645588803 | TP53 | c.585_598del (p.Arg196PhefsTer8) c.189_202del (p.Arg64PhefsTer8) c.306_319del (p.Arg103PhefsTer8) c.564_577del (p.Arg189PhefsTer8) n.841_854del n.67+107_67+120del c.468_481del (p.Arg157PhefsTer8) c.108_121del (p.Arg37PhefsTer8) c.552_565del (p.Arg185PhefsTer8) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674934_7674948del | CA645588802 | TP53 | c.584_598del (p.Ile195_Gly199del) c.188_202del (p.Ile63_Gly67del) c.305_319del (p.Ile102_Gly106del) c.563_577del (p.Ile188_Gly192del) n.840_854del n.67+106_67+120del c.467_481del (p.Ile156_Gly160del) c.107_121del (p.Ile36_Gly40del) c.551_565del (p.Ile184_Gly188del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674939_7674959del | CA645588811 | TP53 | c.572_592del (p.Pro191_Glu198delinsGln) c.176_196del (p.Pro59_Glu66delinsGln) c.293_313del (p.Pro98_Glu105delinsGln) c.551_571del (p.Pro184_Glu191delinsGln) n.828_848del n.67+94_67+114del c.455_475del (p.Pro152_Glu159delinsGln) c.95_115del (p.Pro32_Glu39delinsGln) c.539_559del (p.Pro180_Glu187delinsGln) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674942_7674968del | CA645588810 | TP53 | c.566_592del (p.Ala189_Val197del) c.170_196del (p.Ala57_Val65del) c.287_313del (p.Ala96_Val104del) c.545_571del (p.Ala182_Val190del) n.822_848del n.67+88_67+114del c.449_475del (p.Ala150_Val158del) c.89_115del (p.Ala30_Val38del) c.533_559del (p.Ala178_Val186del) | COSMIC |
| 17 | g.7674943_7674949del | CA645588812 | TP53 | c.582_588del (p.Ile195TrpfsTer?) c.186_192del (p.Ile63TrpfsTer?) c.303_309del (p.Ile102TrpfsTer?) c.561_567del (p.Ile188TrpfsTer?) n.838_844del n.67+104_67+110del c.465_471del (p.Ile156TrpfsTer?) c.105_111del (p.Ile36TrpfsTer?) c.549_555del (p.Ile184TrpfsTer?) | COSMIC |
| 17 | g.7674944_7674962delinsCGGATAAGATGCTGAGGAG | CA2245955007 | TP53 | c.569_587delinsCTCCTCAGCATCTTATCCG (p.Pro190=) c.173_191delinsCTCCTCAGCATCTTATCCG (p.Pro58=) c.290_308delinsCTCCTCAGCATCTTATCCG (p.Pro97=) c.548_566delinsCTCCTCAGCATCTTATCCG (p.Pro183=) n.825_843delinsCTCCTCAGCATCTTATCCG n.67+91_67+109delinsCTCCTCAGCATCTTATCCG c.452_470delinsCTCCTCAGCATCTTATCCG (p.Pro151=) c.92_110delinsCTCCTCAGCATCTTATCCG (p.Pro31=) c.536_554delinsCTCCTCAGCATCTTATCCG (p.Pro179=) | |
| 17 | g.7674945_7674946del | CA645588816 | TP53 | c.585_586del (p.Ile195MetfsTer13) c.189_190del (p.Ile63MetfsTer13) c.306_307del (p.Ile102MetfsTer13) c.564_565del (p.Ile188MetfsTer13) n.841_842del n.67+107_67+108del c.468_469del (p.Ile156MetfsTer13) c.108_109del (p.Ile36MetfsTer13) c.552_553del (p.Ile184MetfsTer13) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674945_7674946delinsAA | CA645588815 | TP53 | c.585_586delinsTT (p.Ile196Ter) c.189_190delinsTT (p.Ile64Ter) c.306_307delinsTT (p.Ile103Ter) c.564_565delinsTT (p.Ile189Ter) n.841_842delinsTT n.67+107_67+108delinsTT c.468_469delinsTT (p.Ile157Ter) c.108_109delinsTT (p.Ile37Ter) c.552_553delinsTT (p.Ile185Ter) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674946dup | CA645588817 | TP53 | c.586dup (p.Arg196ProfsTer13) c.190dup (p.Arg64ProfsTer13) c.307dup (p.Arg103ProfsTer13) c.565dup (p.Arg189ProfsTer13) n.842dup n.67+108dup c.469dup (p.Arg157ProfsTer13) c.109dup (p.Arg37ProfsTer13) c.553dup (p.Arg185ProfsTer13) | COSMIC |
| 17 | g.7674946del | CA497925354 | TP53 | c.586del (p.Arg196GlufsTer?) c.190del (p.Arg64GlufsTer?) c.307del (p.Arg103GlufsTer?) c.565del (p.Arg189GlufsTer?) n.842del n.67+108del c.469del (p.Arg157GlufsTer?) c.109del (p.Arg37GlufsTer?) c.553del (p.Arg185GlufsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674945_7674949del | CA645588818 | TP53 | c.582_586del (p.Ile195SerfsTer12) c.186_190del (p.Ile63SerfsTer12) c.303_307del (p.Ile102SerfsTer12) c.561_565del (p.Ile188SerfsTer12) n.838_842del n.67+104_67+108del c.465_469del (p.Ile156SerfsTer12) c.105_109del (p.Ile36SerfsTer12) c.549_553del (p.Ile184SerfsTer12) | COSMIC |
| 17 | g.7674946_7674954del | CA645588814 | TP53 | c.578_586del (p.His193_Ile195del) c.182_190del (p.His61_Ile63del) c.299_307del (p.His100_Ile102del) c.557_565del (p.His186_Ile188del) n.834_842del n.67+100_67+108del c.461_469del (p.His154_Ile156del) c.101_109del (p.His34_Ile36del) c.545_553del (p.His182_Ile184del) | COSMIC |
| 17 | g.7674947_7674964del | CA1139665124 | TP53 | c.569_586del (p.Pro190_Ile195del) c.173_190del (p.Pro58_Ile63del) c.290_307del (p.Pro97_Ile102del) c.548_565del (p.Pro183_Ile188del) n.825_842del n.67+91_67+108del c.452_469del (p.Pro151_Ile156del) c.92_109del (p.Pro31_Ile36del) c.536_553del (p.Pro179_Ile184del) | ClinVar dbSNP |
| 17 | g.7674946G>A | CA497925355 | TP53 | c.585C>T (p.Ile195=) c.189C>T (p.Ile63=) c.306C>T (p.Ile102=) c.564C>T (p.Ile188=) n.841C>T n.67+107C>T c.468C>T (p.Ile156=) c.108C>T (p.Ile36=) c.552C>T (p.Ile184=) | dbSNP |
| 17 | g.7674946G>C | CA16603040 | TP53 | c.585C>G (p.Ile195Met) c.189C>G (p.Ile63Met) c.306C>G (p.Ile102Met) c.564C>G (p.Ile188Met) n.841C>G n.67+107C>G c.468C>G (p.Ile156Met) c.108C>G (p.Ile36Met) c.552C>G (p.Ile184Met) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674946G= | CA2245955065 | TP53 | c.585C= (p.Ile195=) c.189C= (p.Ile63=) c.306C= (p.Ile102=) c.564C= (p.Ile188=) n.841C= n.67+107C= c.468C= (p.Ile156=) c.108C= (p.Ile36=) c.552C= (p.Ile184=) | |
| 17 | g.7674946G>T | CA497925357 | TP53 | c.585C>A (p.Ile195=) c.189C>A (p.Ile63=) c.306C>A (p.Ile102=) c.564C>A (p.Ile188=) n.841C>A n.67+107C>A c.468C>A (p.Ile156=) c.108C>A (p.Ile36=) c.552C>A (p.Ile184=) | ClinVar dbSNP |
| 17 | g.7674949_7674953del | CA2499224968 | TP53 | c.581_585del (p.Leu194ProfsTer13) c.185_189del (p.Leu62ProfsTer13) c.302_306del (p.Leu101ProfsTer13) c.560_564del (p.Leu187ProfsTer13) n.837_841del n.67+103_67+107del c.464_468del (p.Leu155ProfsTer13) c.104_108del (p.Leu35ProfsTer13) c.548_552del (p.Leu183ProfsTer13) | ClinVar dbSNP |
| 17 | g.7674946_7674954delinsAGGGGC | CA645588819 | TP53 | c.577_585delinsGCCCCT (p.His193_Ile195delinsAlaPro) c.181_189delinsGCCCCT (p.His61_Ile63delinsAlaPro) c.298_306delinsGCCCCT (p.His100_Ile102delinsAlaPro) c.556_564delinsGCCCCT (p.His186_Ile188delinsAlaPro) n.833_841delinsGCCCCT n.67+99_67+107delinsGCCCCT c.460_468delinsGCCCCT (p.His154_Ile156delinsAlaPro) c.100_108delinsGCCCCT (p.His34_Ile36delinsAlaPro) c.544_552delinsGCCCCT (p.His182_Ile184delinsAlaPro) | COSMIC |
| 17 | g.7674947del | CA645588820 | TP53 | c.584del (p.Ile195ThrfsTer?) c.188del (p.Ile63ThrfsTer?) c.305del (p.Ile102ThrfsTer?) c.563del (p.Ile188ThrfsTer?) n.840del n.67+106del c.467del (p.Ile156ThrfsTer?) c.107del (p.Ile36ThrfsTer?) c.551del (p.Ile184ThrfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674947A= | CA2245955080 | TP53 | c.584T= (p.Ile195=) c.188T= (p.Ile63=) c.305T= (p.Ile102=) c.563T= (p.Ile188=) n.840T= n.67+106T= c.467T= (p.Ile156=) c.107T= (p.Ile36=) c.551T= (p.Ile184=) | |
| 17 | g.7674947A>C | CA16603039 | TP53 | c.584T>G (p.Ile195Ser) c.188T>G (p.Ile63Ser) c.305T>G (p.Ile102Ser) c.563T>G (p.Ile188Ser) n.840T>G n.67+106T>G c.467T>G (p.Ile156Ser) c.107T>G (p.Ile36Ser) c.551T>G (p.Ile184Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674947A>G | CA002232 | TP53 | c.584T>C (p.Ile195Thr) c.188T>C (p.Ile63Thr) c.305T>C (p.Ile102Thr) c.563T>C (p.Ile188Thr) n.840T>C n.67+106T>C c.467T>C (p.Ile156Thr) c.107T>C (p.Ile36Thr) c.551T>C (p.Ile184Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674947A>T | CA16603038 | TP53 | c.584T>A (p.Ile195Asn) c.188T>A (p.Ile63Asn) c.305T>A (p.Ile102Asn) c.563T>A (p.Ile188Asn) n.840T>A n.67+106T>A c.467T>A (p.Ile156Asn) c.107T>A (p.Ile36Asn) c.551T>A (p.Ile184Asn) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674947_7674950del | CA2739265574 | TP53 | c.581_584del (p.Leu194ProfsTer?) c.185_188del (p.Leu62ProfsTer?) c.302_305del (p.Leu101ProfsTer?) c.560_563del (p.Leu187ProfsTer?) n.837_840del n.67+103_67+106del c.464_467del (p.Leu155ProfsTer?) c.104_107del (p.Leu35ProfsTer?) c.548_551del (p.Leu183ProfsTer?) | ClinVar |
| 17 | g.7674948del | CA497925359 | TP53 | c.583del (p.Ile195SerfsTer?) c.187del (p.Ile63SerfsTer?) c.304del (p.Ile102SerfsTer?) c.562del (p.Ile188SerfsTer?) n.839del n.67+105del c.466del (p.Ile156SerfsTer?) c.106del (p.Ile36SerfsTer?) c.550del (p.Ile184SerfsTer?) | COSMIC |
| 17 | g.7674948T>A | CA16603037 | TP53 | c.583A>T (p.Ile195Phe) c.187A>T (p.Ile63Phe) c.304A>T (p.Ile102Phe) c.562A>T (p.Ile188Phe) n.839A>T n.67+105A>T c.466A>T (p.Ile156Phe) c.106A>T (p.Ile36Phe) c.550A>T (p.Ile184Phe) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674948T>C | CA397840581 | TP53 | c.583A>G (p.Ile195Val) c.187A>G (p.Ile63Val) c.304A>G (p.Ile102Val) c.562A>G (p.Ile188Val) n.839A>G n.67+105A>G c.466A>G (p.Ile156Val) c.106A>G (p.Ile36Val) c.550A>G (p.Ile184Val) | |
| 17 | g.7674948T>G | CA397840598 | TP53 | c.583A>C (p.Ile195Leu) c.187A>C (p.Ile63Leu) c.304A>C (p.Ile102Leu) c.562A>C (p.Ile188Leu) n.839A>C n.67+105A>C c.466A>C (p.Ile156Leu) c.106A>C (p.Ile36Leu) c.550A>C (p.Ile184Leu) | dbSNP COSMIC |
| 17 | g.7674948T= | CA2245955107 | TP53 | c.583A= (p.Ile195=) c.187A= (p.Ile63=) c.304A= (p.Ile102=) c.562A= (p.Ile188=) n.839A= n.67+105A= c.466A= (p.Ile156=) c.106A= (p.Ile36=) c.550A= (p.Ile184=) | |
| 17 | g.7674948dup | CA645588823 | TP53 | c.583dup (p.Ile195AsnfsTer14) c.187dup (p.Ile63AsnfsTer14) c.304dup (p.Ile102AsnfsTer14) c.562dup (p.Ile188AsnfsTer14) n.839dup n.67+105dup c.466dup (p.Ile156AsnfsTer14) c.106dup (p.Ile36AsnfsTer14) c.550dup (p.Ile184AsnfsTer14) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674948_7674949delinsTA | CA2245955110 | TP53 | c.582_583delinsTA (p.Leu194=) c.186_187delinsTA (p.Leu62=) c.303_304delinsTA (p.Leu101=) c.561_562delinsTA (p.Leu187=) n.838_839delinsTA n.67+104_67+105delinsTA c.465_466delinsTA (p.Leu155=) c.105_106delinsTA (p.Leu35=) c.549_550delinsTA (p.Leu183=) | |
| 17 | g.7674948_7674951del | CA645588822 | TP53 | c.580_583del (p.Leu194SerfsTer?) c.184_187del (p.Leu62SerfsTer?) c.301_304del (p.Leu101SerfsTer?) c.559_562del (p.Leu187SerfsTer?) n.836_839del n.67+102_67+105del c.463_466del (p.Leu155SerfsTer?) c.103_106del (p.Leu35SerfsTer?) c.547_550del (p.Leu183SerfsTer?) | COSMIC |
| 17 | g.7674953_7674977del | CA645588821 | TP53 | c.560-1_583del c.164-1_187del c.281-1_304del c.539-1_562del n.816-1_839del n.67+81_67+105del c.443-1_466del c.83-1_106del c.527-1_550del | COSMIC |
| 17 | g.7674949A= | CA2245955131 | TP53 | c.582T= (p.Leu194=) c.186T= (p.Leu62=) c.303T= (p.Leu101=) c.561T= (p.Leu187=) n.838T= n.67+104T= c.465T= (p.Leu155=) c.105T= (p.Leu35=) c.549T= (p.Leu183=) | |
| 17 | g.7674949A>C | CA497925362 | TP53 | c.582T>G (p.Leu194=) c.186T>G (p.Leu62=) c.303T>G (p.Leu101=) c.561T>G (p.Leu187=) n.838T>G n.67+104T>G c.465T>G (p.Leu155=) c.105T>G (p.Leu35=) c.549T>G (p.Leu183=) | dbSNP COSMIC |
| 17 | g.7674949A>G | CA000280 | TP53 | c.582T>C (p.Leu194=) c.186T>C (p.Leu62=) c.303T>C (p.Leu101=) c.561T>C (p.Leu187=) n.838T>C n.67+104T>C c.465T>C (p.Leu155=) c.105T>C (p.Leu35=) c.549T>C (p.Leu183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7674949A>T | CA497925365 | TP53 | c.582T>A (p.Leu194=) c.186T>A (p.Leu62=) c.303T>A (p.Leu101=) c.561T>A (p.Leu187=) n.838T>A n.67+104T>A c.465T>A (p.Leu155=) c.105T>A (p.Leu35=) c.549T>A (p.Leu183=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674949_7674950del | CA645588826 | TP53 | c.581_582del (p.Leu194HisfsTer14) c.185_186del (p.Leu62HisfsTer14) c.302_303del (p.Leu101HisfsTer14) c.560_561del (p.Leu187HisfsTer14) n.837_838del n.67+103_67+104del c.464_465del (p.Leu155HisfsTer14) c.104_105del (p.Leu35HisfsTer14) c.548_549del (p.Leu183HisfsTer14) | COSMIC |
| 17 | g.7674950dup | CA497925361 | TP53 | c.582dup (p.Ile195TyrfsTer14) c.186dup (p.Ile63TyrfsTer14) c.303dup (p.Ile102TyrfsTer14) c.561dup (p.Ile188TyrfsTer14) n.838dup n.67+104dup c.465dup (p.Ile156TyrfsTer14) c.105dup (p.Ile36TyrfsTer14) c.549dup (p.Ile184TyrfsTer14) | |
| 17 | g.7674950del | CA497925366 | TP53 | c.582del (p.Ile195SerfsTer?) c.186del (p.Ile63SerfsTer?) c.303del (p.Ile102SerfsTer?) c.561del (p.Ile188SerfsTer?) n.838del n.67+104del c.465del (p.Ile156SerfsTer?) c.105del (p.Ile36SerfsTer?) c.549del (p.Ile184SerfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674950_7674952del | CA645588825 | TP53 | c.580_582del (p.Leu194del) c.184_186del (p.Leu62del) c.301_303del (p.Leu101del) c.559_561del (p.Leu187del) n.836_838del n.67+102_67+104del c.463_465del (p.Leu155del) c.103_105del (p.Leu35del) c.547_549del (p.Leu183del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674950A= | CA2245955149 | TP53 | c.581T= (p.Leu194=) c.185T= (p.Leu62=) c.302T= (p.Leu101=) c.560T= (p.Leu187=) n.837T= n.67+103T= c.464T= (p.Leu155=) c.104T= (p.Leu35=) c.548T= (p.Leu183=) |