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.7674158_7674198del | CA2695202190 | TP53 | c.773_782+31del c.377_386+31del c.494_503+31del c.752_761+31del c.656_665+31del c.296_305+31del c.740_749+31del | |
| 17 | g.7674161_7674237dup | CA913190585 | TP53 | c.727_782+21dup c.331_386+21dup c.448_503+21dup c.706_761+21dup c.610_665+21dup c.250_305+21dup c.694_749+21dup | ClinVar dbSNP |
| 17 | g.7674187_7674209del | CA645588486 | TP53 | c.757_779del (p.Thr253GlnfsTer3) c.361_383del (p.Thr121GlnfsTer3) c.478_500del (p.Thr160GlnfsTer3) c.736_758del (p.Thr246GlnfsTer3) c.757_779del (p.Thr253GlnfsTer?) c.640_662del (p.Thr214GlnfsTer3) c.280_302del (p.Thr94GlnfsTer3) c.724_746del (p.Thr242GlnfsTer3) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674190_7674212del | CA2695239762 | TP53 | c.752_774del (p.Ile251ArgfsTer5) c.356_378del (p.Ile119ArgfsTer5) c.473_495del (p.Ile158ArgfsTer5) c.731_753del (p.Ile244ArgfsTer5) c.752_774del (p.Ile251ArgfsTer?) c.635_657del (p.Ile212ArgfsTer5) c.275_297del (p.Ile92ArgfsTer5) c.719_741del (p.Ile240ArgfsTer5) | |
| 17 | g.7674191_7674197del | CA645588493 | TP53 | c.767_773del (p.Thr256LysfsTer?) c.371_377del (p.Thr124LysfsTer?) c.488_494del (p.Thr163LysfsTer?) c.746_752del (p.Thr249LysfsTer?) c.767_773del (p.Thr256LysfsTer11) c.650_656del (p.Thr217LysfsTer?) c.290_296del (p.Thr97LysfsTer?) c.734_740del (p.Thr245LysfsTer?) | COSMIC |
| 17 | g.7674191_7674198del | CA891842239 | TP53 | c.765_772del (p.Thr256ArgfsTer5) c.369_376del (p.Thr124ArgfsTer5) c.486_493del (p.Thr163ArgfsTer5) c.744_751del (p.Thr249ArgfsTer5) c.765_772del (p.Thr256ArgfsTer?) c.648_655del (p.Thr217ArgfsTer5) c.288_295del (p.Thr97ArgfsTer5) c.732_739del (p.Thr245ArgfsTer5) | |
| 17 | g.7674191_7674204del | CA2580094835 | TP53 | c.759_772del (p.Ile254ArgfsTer5) c.363_376del (p.Ile122ArgfsTer5) c.480_493del (p.Ile161ArgfsTer5) c.738_751del (p.Ile247ArgfsTer5) c.759_772del (p.Ile254ArgfsTer?) c.642_655del (p.Ile215ArgfsTer5) c.282_295del (p.Ile95ArgfsTer5) c.726_739del (p.Ile243ArgfsTer5) | ClinVar |
| 17 | g.7674192_7674197delinsCAGTGT | CA2245951029 | TP53 | c.766_771delinsACACTG (p.Thr256=) c.370_375delinsACACTG (p.Thr124=) c.487_492delinsACACTG (p.Thr163=) c.745_750delinsACACTG (p.Thr249=) c.649_654delinsACACTG (p.Thr217=) c.289_294delinsACACTG (p.Thr97=) c.733_738delinsACACTG (p.Thr245=) | |
| 17 | g.7674193_7674197delinsTGGATGTCCTGACCTG | CA10580922 | TP53 | c.766_770delinsCAGGTCAGGACATCCA (p.Thr256GlnfsTer?) c.370_374delinsCAGGTCAGGACATCCA (p.Thr124GlnfsTer?) c.487_491delinsCAGGTCAGGACATCCA (p.Thr163GlnfsTer?) c.745_749delinsCAGGTCAGGACATCCA (p.Thr249GlnfsTer?) c.766_770delinsCAGGTCAGGACATCCA (p.Thr256GlnfsTer17) c.649_653delinsCAGGTCAGGACATCCA (p.Thr217GlnfsTer?) c.289_293delinsCAGGTCAGGACATCCA (p.Thr97GlnfsTer?) c.733_737delinsCAGGTCAGGACATCCA (p.Thr245GlnfsTer?) | ClinVar dbSNP |
| 17 | g.7674194_7674196del | CA645588499 | TP53 | c.767_769del (p.Thr256_Leu257delinsMet) c.371_373del (p.Thr124_Leu125delinsMet) c.488_490del (p.Thr163_Leu164delinsMet) c.746_748del (p.Thr249_Leu250delinsMet) c.650_652del (p.Thr217_Leu218delinsMet) c.290_292del (p.Thr97_Leu98delinsMet) c.734_736del (p.Thr245_Leu246delinsMet) | COSMIC COSMIC COSMIC |
| 17 | g.7674197_7674198del | CA645588498 | TP53 | c.768_769del (p.Leu257GlyfsTer6) c.372_373del (p.Leu125GlyfsTer6) c.489_490del (p.Leu164GlyfsTer6) c.747_748del (p.Leu250GlyfsTer6) c.768_769del (p.Leu257GlyfsTer?) c.651_652del (p.Leu218GlyfsTer6) c.291_292del (p.Leu98GlyfsTer6) c.735_736del (p.Leu246GlyfsTer6) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674195T>A | CA497716817 | TP53 | c.768A>T (p.Thr256=) c.372A>T (p.Thr124=) c.489A>T (p.Thr163=) c.747A>T (p.Thr249=) c.651A>T (p.Thr217=) c.291A>T (p.Thr97=) c.735A>T (p.Thr245=) | ClinVar dbSNP |
| 17 | g.7674195T>C | CA000400 | TP53 | c.768A>G (p.Thr256=) c.372A>G (p.Thr124=) c.489A>G (p.Thr163=) c.747A>G (p.Thr249=) c.651A>G (p.Thr217=) c.291A>G (p.Thr97=) c.735A>G (p.Thr245=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7674195T>G | CA497716815 | TP53 | c.768A>C (p.Thr256=) c.372A>C (p.Thr124=) c.489A>C (p.Thr163=) c.747A>C (p.Thr249=) c.651A>C (p.Thr217=) c.291A>C (p.Thr97=) c.735A>C (p.Thr245=) | ClinVar |
| 17 | g.7674195T= | CA2245951047 | TP53 | c.768A= (p.Thr256=) c.372A= (p.Thr124=) c.489A= (p.Thr163=) c.747A= (p.Thr249=) c.651A= (p.Thr217=) c.291A= (p.Thr97=) c.735A= (p.Thr245=) | |
| 17 | g.7674195_7674197del | CA2635876158 | TP53 | c.766_768del (p.Thr256del) c.370_372del (p.Thr124del) c.487_489del (p.Thr163del) c.745_747del (p.Thr249del) c.649_651del (p.Thr217del) c.289_291del (p.Thr97del) c.733_735del (p.Thr245del) | gnomAD v4 |
| 17 | g.7674197_7674204del | CA645588501 | TP53 | c.761_768del (p.Ile254ThrfsTer7) c.365_372del (p.Ile122ThrfsTer7) c.482_489del (p.Ile161ThrfsTer7) c.740_747del (p.Ile247ThrfsTer7) c.761_768del (p.Ile254ThrfsTer?) c.644_651del (p.Ile215ThrfsTer7) c.284_291del (p.Ile95ThrfsTer7) c.728_735del (p.Ile243ThrfsTer7) | COSMIC |
| 17 | g.7674195_7674218del | CA645588500 | TP53 | c.745_768del (p.Arg249_Thr256del) c.349_372del (p.Arg117_Thr124del) c.466_489del (p.Arg156_Thr163del) c.724_747del (p.Arg242_Thr249del) c.628_651del (p.Arg210_Thr217del) c.268_291del (p.Arg90_Thr97del) c.712_735del (p.Arg238_Thr245del) | COSMIC |
| 17 | g.7674195_7674196insCA | CA2635876168 | TP53 | c.767_768insTG (p.Leu257AspfsTer?) c.371_372insTG (p.Leu125AspfsTer?) c.488_489insTG (p.Leu164AspfsTer?) c.746_747insTG (p.Leu250AspfsTer?) c.767_768insTG (p.Leu257AspfsTer13) c.650_651insTG (p.Leu218AspfsTer?) c.290_291insTG (p.Leu98AspfsTer?) c.734_735insTG (p.Leu246AspfsTer?) | gnomAD v4 |
| 17 | g.7674196del | CA497716826 | TP53 | c.767del (p.Thr256AsnfsTer?) c.371del (p.Thr124AsnfsTer?) c.488del (p.Thr163AsnfsTer?) c.746del (p.Thr249AsnfsTer?) c.767del (p.Thr256AsnfsTer13) c.650del (p.Thr217AsnfsTer?) c.290del (p.Thr97AsnfsTer?) c.734del (p.Thr245AsnfsTer?) | COSMIC |
| 17 | g.7674196G>A | CA397837735 | TP53 | c.767C>T (p.Thr256Ile) c.371C>T (p.Thr124Ile) c.488C>T (p.Thr163Ile) c.746C>T (p.Thr249Ile) c.650C>T (p.Thr217Ile) c.290C>T (p.Thr97Ile) c.734C>T (p.Thr245Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674196G>C | CA397837737 | TP53 | c.767C>G (p.Thr256Arg) c.371C>G (p.Thr124Arg) c.488C>G (p.Thr163Arg) c.746C>G (p.Thr249Arg) c.650C>G (p.Thr217Arg) c.290C>G (p.Thr97Arg) c.734C>G (p.Thr245Arg) | |
| 17 | g.7674196G= | CA2245951060 | TP53 | c.767C= (p.Thr256=) c.371C= (p.Thr124=) c.488C= (p.Thr163=) c.746C= (p.Thr249=) c.650C= (p.Thr217=) c.290C= (p.Thr97=) c.734C= (p.Thr245=) | |
| 17 | g.7674196G>T | CA397837739 | TP53 | c.767C>A (p.Thr256Lys) c.371C>A (p.Thr124Lys) c.488C>A (p.Thr163Lys) c.746C>A (p.Thr249Lys) c.650C>A (p.Thr217Lys) c.290C>A (p.Thr97Lys) c.734C>A (p.Thr245Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674196_7674198del | CA645588502 | TP53 | c.765_767del (p.Thr256del) c.369_371del (p.Thr124del) c.486_488del (p.Thr163del) c.744_746del (p.Thr249del) c.648_650del (p.Thr217del) c.288_290del (p.Thr97del) c.732_734del (p.Thr245del) | COSMIC COSMIC COSMIC |
| 17 | g.7674196_7674199delinsGTGA | CA2245951058 | TP53 | c.764_767delinsTCAC (p.Ile255=) c.368_371delinsTCAC (p.Ile123=) c.485_488delinsTCAC (p.Ile162=) c.743_746delinsTCAC (p.Ile248=) c.647_650delinsTCAC (p.Ile216=) c.287_290delinsTCAC (p.Ile96=) c.731_734delinsTCAC (p.Ile244=) | |
| 17 | g.7674200_7674208del | CA645588503 | TP53 | c.759_767del (p.Ile254_Thr256del) c.363_371del (p.Ile122_Thr124del) c.480_488del (p.Ile161_Thr163del) c.738_746del (p.Ile247_Thr249del) c.642_650del (p.Ile215_Thr217del) c.282_290del (p.Ile95_Thr97del) c.726_734del (p.Ile243_Thr245del) | ClinVar COSMIC COSMIC |
| 17 | g.7674197del | CA497716837 | TP53 | c.766del (p.Thr256HisfsTer?) c.370del (p.Thr124HisfsTer?) c.487del (p.Thr163HisfsTer?) c.745del (p.Thr249HisfsTer?) c.766del (p.Thr256HisfsTer13) c.649del (p.Thr217HisfsTer?) c.289del (p.Thr97HisfsTer?) c.733del (p.Thr245HisfsTer?) | COSMIC |
| 17 | g.7674197T>A | CA397837740 | TP53 | c.766A>T (p.Thr256Ser) c.370A>T (p.Thr124Ser) c.487A>T (p.Thr163Ser) c.745A>T (p.Thr249Ser) c.649A>T (p.Thr217Ser) c.289A>T (p.Thr97Ser) c.733A>T (p.Thr245Ser) | COSMIC |
| 17 | g.7674197T>C | CA000399 | TP53 | c.766A>G (p.Thr256Ala) c.370A>G (p.Thr124Ala) c.487A>G (p.Thr163Ala) c.745A>G (p.Thr249Ala) c.649A>G (p.Thr217Ala) c.289A>G (p.Thr97Ala) c.733A>G (p.Thr245Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7674197T>G | CA397837741 | TP53 | c.766A>C (p.Thr256Pro) c.370A>C (p.Thr124Pro) c.487A>C (p.Thr163Pro) c.745A>C (p.Thr249Pro) c.649A>C (p.Thr217Pro) c.289A>C (p.Thr97Pro) c.733A>C (p.Thr245Pro) | ClinVar dbSNP COSMIC |
| 17 | g.7674197T= | CA2245951095 | TP53 | c.766A= (p.Thr256=) c.370A= (p.Thr124=) c.487A= (p.Thr163=) c.745A= (p.Thr249=) c.649A= (p.Thr217=) c.289A= (p.Thr97=) c.733A= (p.Thr245=) | |
| 17 | g.7674197dup | CA645588504 | TP53 | c.766dup (p.Thr256AsnfsTer8) c.370dup (p.Thr124AsnfsTer8) c.487dup (p.Thr163AsnfsTer8) c.745dup (p.Thr249AsnfsTer8) c.766dup (p.Thr256AsnfsTer?) c.649dup (p.Thr217AsnfsTer8) c.289dup (p.Thr97AsnfsTer8) c.733dup (p.Thr245AsnfsTer8) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674197_7674198delinsA | CA2795330543 | TP53 | c.765_766delinsT (p.Thr256HisfsTer?) c.369_370delinsT (p.Thr124HisfsTer?) c.486_487delinsT (p.Thr163HisfsTer?) c.744_745delinsT (p.Thr249HisfsTer?) c.765_766delinsT (p.Thr256HisfsTer13) c.648_649delinsT (p.Thr217HisfsTer?) c.288_289delinsT (p.Thr97HisfsTer?) c.732_733delinsT (p.Thr245HisfsTer?) | |
| 17 | g.7674197_7674200del | CA2635876178 | TP53 | c.763_766del (p.Ile255HisfsTer?) c.367_370del (p.Ile123HisfsTer?) c.484_487del (p.Ile162HisfsTer?) c.742_745del (p.Ile248HisfsTer?) c.763_766del (p.Ile255HisfsTer13) c.646_649del (p.Ile216HisfsTer?) c.286_289del (p.Ile96HisfsTer?) c.730_733del (p.Ile244HisfsTer?) | gnomAD v4 |
| 17 | g.7674202_7674204del | CA16620619 | TP53 | c.764_766del (p.Ile255del) c.368_370del (p.Ile123del) c.485_487del (p.Ile162del) c.743_745del (p.Ile248del) c.647_649del (p.Ile216del) c.287_289del (p.Ile96del) c.731_733del (p.Ile244del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674197_7674198insA | CA497716846 | TP53 | c.765_766insT (p.Thr256TyrfsTer8) c.369_370insT (p.Thr124TyrfsTer8) c.486_487insT (p.Thr163TyrfsTer8) c.744_745insT (p.Thr249TyrfsTer8) c.765_766insT (p.Thr256TyrfsTer?) c.648_649insT (p.Thr217TyrfsTer8) c.288_289insT (p.Thr97TyrfsTer8) c.732_733insT (p.Thr245TyrfsTer8) | |
| 17 | g.7674198G>A | CA497716845 | TP53 | c.765C>T (p.Ile255=) c.369C>T (p.Ile123=) c.486C>T (p.Ile162=) c.744C>T (p.Ile248=) c.648C>T (p.Ile216=) c.288C>T (p.Ile96=) c.732C>T (p.Ile244=) | ClinVar dbSNP COSMIC |
| 17 | g.7674198G>C | CA397837742 | TP53 | c.765C>G (p.Ile255Met) c.369C>G (p.Ile123Met) c.486C>G (p.Ile162Met) c.744C>G (p.Ile248Met) c.648C>G (p.Ile216Met) c.288C>G (p.Ile96Met) c.732C>G (p.Ile244Met) | COSMIC |
| 17 | g.7674198G>T | CA497716844 | TP53 | c.765C>A (p.Ile255=) c.369C>A (p.Ile123=) c.486C>A (p.Ile162=) c.744C>A (p.Ile248=) c.648C>A (p.Ile216=) c.288C>A (p.Ile96=) c.732C>A (p.Ile244=) | gnomAD v4 COSMIC |
| 17 | g.7674199_7674222del | CA2733136155 | TP53 | c.742_765del (p.Arg248_Ile255del) c.346_369del (p.Arg116_Ile123del) c.463_486del (p.Arg155_Ile162del) c.721_744del (p.Arg241_Ile248del) c.625_648del (p.Arg209_Ile216del) c.265_288del (p.Arg89_Ile96del) c.709_732del (p.Arg237_Ile244del) | dbSNP |
| 17 | g.7674199A= | CA2245951109 | TP53 | c.764T= (p.Ile255=) c.368T= (p.Ile123=) c.485T= (p.Ile162=) c.743T= (p.Ile248=) c.647T= (p.Ile216=) c.287T= (p.Ile96=) c.731T= (p.Ile244=) | |
| 17 | g.7674199A>C | CA16603042 | TP53 | c.764T>G (p.Ile255Ser) c.368T>G (p.Ile123Ser) c.485T>G (p.Ile162Ser) c.743T>G (p.Ile248Ser) c.647T>G (p.Ile216Ser) c.287T>G (p.Ile96Ser) c.731T>G (p.Ile244Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674199A>G | CA16603043 | TP53 | c.764T>C (p.Ile255Thr) c.368T>C (p.Ile123Thr) c.485T>C (p.Ile162Thr) c.743T>C (p.Ile248Thr) c.647T>C (p.Ile216Thr) c.287T>C (p.Ile96Thr) c.731T>C (p.Ile244Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7674199A>T | CA10580923 | TP53 | c.764T>A (p.Ile255Asn) c.368T>A (p.Ile123Asn) c.485T>A (p.Ile162Asn) c.743T>A (p.Ile248Asn) c.647T>A (p.Ile216Asn) c.287T>A (p.Ile96Asn) c.731T>A (p.Ile244Asn) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674199_7674200del | CA645588506 | TP53 | c.763_764del (p.Ile255HisfsTer8) c.367_368del (p.Ile123HisfsTer8) c.484_485del (p.Ile162HisfsTer8) c.742_743del (p.Ile248HisfsTer8) c.763_764del (p.Ile255HisfsTer?) c.646_647del (p.Ile216HisfsTer8) c.286_287del (p.Ile96HisfsTer8) c.730_731del (p.Ile244HisfsTer8) | COSMIC |
| 17 | g.7674199_7674203del | CA645588505 | TP53 | c.760_764del (p.Ile254HisfsTer8) c.364_368del (p.Ile122HisfsTer8) c.481_485del (p.Ile161HisfsTer8) c.739_743del (p.Ile247HisfsTer8) c.760_764del (p.Ile254HisfsTer?) c.643_647del (p.Ile215HisfsTer8) c.283_287del (p.Ile95HisfsTer8) c.727_731del (p.Ile243HisfsTer8) | COSMIC COSMIC COSMIC |
| 17 | g.7674200del | CA497716862 | TP53 | c.763del (p.Ile255SerfsTer?) c.367del (p.Ile123SerfsTer?) c.484del (p.Ile162SerfsTer?) c.742del (p.Ile248SerfsTer?) c.763del (p.Ile255SerfsTer14) c.646del (p.Ile216SerfsTer?) c.286del (p.Ile96SerfsTer?) c.730del (p.Ile244SerfsTer?) | COSMIC |