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.7673635_7673845del | CA645587395 | TP53 | c.783-8_920-27del c.387-8_524-27del c.504-8_641-27del c.762-8_899-27del c.782+336_782+546del (n.782+336_782+546del) c.666-8_803-27del c.306-8_443-27del c.750-8_887-27del | COSMIC |
| 17 | g.7673648_7673717del | CA645587396 | TP53 | c.903_920-40del c.507_524-40del c.624_641-40del c.882_899-40del c.782+464_782+533del (n.782+464_782+533del) c.786_803-40del c.426_443-40del c.870_887-40del | COSMIC |
| 17 | g.7673705_7673729dup | CA916081896 | TP53 | c.895_919dup (p.Leu308AlafsTer6) c.499_523dup (p.Leu176AlafsTer6) c.616_640dup (p.Leu215AlafsTer6) c.874_898dup (p.Leu301AlafsTer6) c.782+456_782+480dup (n.782+456_782+480dup) c.778_802dup (p.Leu269AlafsTer6) c.418_442dup (p.Leu149AlafsTer6) c.862_886dup (p.Leu297AlafsTer6) | ClinVar dbSNP |
| 17 | g.7673704_7673716dup | CA2739265584 | TP53 | c.905_917dup (p.Ala307GlufsTer3) c.509_521dup (p.Ala175GlufsTer3) c.626_638dup (p.Ala214GlufsTer3) c.884_896dup (p.Ala300GlufsTer3) c.782+466_782+478dup (n.782+466_782+478dup) c.788_800dup (p.Ala268GlufsTer3) c.428_440dup (p.Ala148GlufsTer3) c.872_884dup (p.Ala296GlufsTer3) | ClinVar |
| 17 | g.7673704_7673711dup | CA915949520 | TP53 | c.909_916dup (p.Arg306ProfsTer?) c.513_520dup (p.Arg174ProfsTer?) c.630_637dup (p.Arg213ProfsTer?) c.888_895dup (p.Arg299ProfsTer?) c.782+470_782+477dup (n.782+470_782+477dup) c.792_799dup (p.Arg267ProfsTer?) c.432_439dup (p.Arg147ProfsTer?) c.876_883dup (p.Arg295ProfsTer?) | ClinVar dbSNP |
| 17 | g.7673705_7673827del | CA645587414 | TP53 | c.794_916del (p.Leu265_Lys305del) c.398_520del (p.Leu133_Lys173del) c.515_637del (p.Leu172_Lys212del) c.773_895del (p.Leu258_Lys298del) c.782+355_782+477del (n.782+355_782+477del) c.677_799del (p.Leu226_Lys266del) c.317_439del (p.Leu106_Lys146del) c.761_883del (p.Leu254_Lys294del) | COSMIC |
| 17 | g.7673708_7673710delinsAGT | CA2245948435 | TP53 | c.910_912delinsACT (p.Thr304=) c.514_516delinsACT (p.Thr172=) c.631_633delinsACT (p.Thr211=) c.889_891delinsACT (p.Thr297=) c.782+471_782+473delinsACT (n.782+471_782+473delinsACT) c.793_795delinsACT (p.Thr265=) c.433_435delinsACT (p.Thr145=) c.877_879delinsACT (p.Thr293=) | |
| 17 | g.7673708_7673742dup | CA2582342142 | TP53 | c.878_912dup (p.Lys305GlyfsTer?) c.482_516dup (p.Lys173GlyfsTer?) c.599_633dup (p.Lys212GlyfsTer?) c.857_891dup (p.Lys298GlyfsTer?) c.782+439_782+473dup (n.782+439_782+473dup) c.761_795dup (p.Lys266GlyfsTer?) c.401_435dup (p.Lys146GlyfsTer?) c.845_879dup (p.Lys294GlyfsTer?) | ClinVar |
| 17 | g.7673709del | CA645587418 | TP53 | c.911del (p.Thr304IlefsTer?) c.515del (p.Thr172IlefsTer?) c.632del (p.Thr211IlefsTer?) c.890del (p.Thr297IlefsTer?) c.782+472del (n.782+472del) c.794del (p.Thr265IlefsTer?) c.434del (p.Thr145IlefsTer?) c.878del (p.Thr293IlefsTer?) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673709G>A | CA397836290 | TP53 | c.911C>T (p.Thr304Ile) c.515C>T (p.Thr172Ile) c.632C>T (p.Thr211Ile) c.890C>T (p.Thr297Ile) c.782+472C>T (n.782+472C>T) c.794C>T (p.Thr265Ile) c.434C>T (p.Thr145Ile) c.878C>T (p.Thr293Ile) | ClinVar dbSNP COSMIC |
| 17 | g.7673709G>C | CA397836295 | TP53 | c.911C>G (p.Thr304Ser) c.515C>G (p.Thr172Ser) c.632C>G (p.Thr211Ser) c.890C>G (p.Thr297Ser) c.782+472C>G (n.782+472C>G) c.794C>G (p.Thr265Ser) c.434C>G (p.Thr145Ser) c.878C>G (p.Thr293Ser) | dbSNP |
| 17 | g.7673709G= | CA2245948452 | TP53 | c.911C= (p.Thr304=) c.515C= (p.Thr172=) c.632C= (p.Thr211=) c.890C= (p.Thr297=) c.782+472C= (n.782+472C=) c.794C= (p.Thr265=) c.434C= (p.Thr145=) c.878C= (p.Thr293=) | |
| 17 | g.7673709G>T | CA397836292 | TP53 | c.911C>A (p.Thr304Asn) c.515C>A (p.Thr172Asn) c.632C>A (p.Thr211Asn) c.890C>A (p.Thr297Asn) c.782+472C>A (n.782+472C>A) c.794C>A (p.Thr265Asn) c.434C>A (p.Thr145Asn) c.878C>A (p.Thr293Asn) | COSMIC |
| 17 | g.7673709_7673710delinsCCTTGCTTACCTC | CA1139665114 | TP53 | c.910_911delinsGAGGTAAGCAAGG (p.Thr304GlufsTer?) c.514_515delinsGAGGTAAGCAAGG (p.Thr172GlufsTer?) c.631_632delinsGAGGTAAGCAAGG (p.Thr211GlufsTer?) c.889_890delinsGAGGTAAGCAAGG (p.Thr297GlufsTer?) c.782+471_782+472delinsGAGGTAAGCAAGG (n.782+471_782+472delinsGAGGTAAGCAAGG) c.793_794delinsGAGGTAAGCAAGG (p.Thr265GlufsTer?) c.433_434delinsGAGGTAAGCAAGG (p.Thr145GlufsTer?) c.877_878delinsGAGGTAAGCAAGG (p.Thr293GlufsTer?) | ClinVar dbSNP |
| 17 | g.7673709_7673743del | CA645587417 | TP53 | c.877_911del (p.Gly293Ter) c.481_515del (p.Gly161Ter) c.598_632del (p.Gly200Ter) c.856_890del (p.Gly286Ter) c.782+438_782+472del (n.782+438_782+472del) c.760_794del (p.Gly254Ter) c.400_434del (p.Gly134Ter) c.844_878del (p.Gly282Ter) | COSMIC |
| 17 | g.7673710del | CA497715392 | TP53 | c.910del (p.Thr304LeufsTer?) c.514del (p.Thr172LeufsTer?) c.631del (p.Thr211LeufsTer?) c.889del (p.Thr297LeufsTer?) c.782+471del (n.782+471del) c.793del (p.Thr265LeufsTer?) c.433del (p.Thr145LeufsTer?) c.877del (p.Thr293LeufsTer?) | COSMIC |
| 17 | g.7673710T>A | CA397836298 | TP53 | c.910A>T (p.Thr304Ser) c.514A>T (p.Thr172Ser) c.631A>T (p.Thr211Ser) c.889A>T (p.Thr297Ser) c.782+471A>T (n.782+471A>T) c.793A>T (p.Thr265Ser) c.433A>T (p.Thr145Ser) c.877A>T (p.Thr293Ser) | |
| 17 | g.7673710T>C | CA000493 | TP53 | c.910A>G (p.Thr304Ala) c.514A>G (p.Thr172Ala) c.631A>G (p.Thr211Ala) c.889A>G (p.Thr297Ala) c.782+471A>G (n.782+471A>G) c.793A>G (p.Thr265Ala) c.433A>G (p.Thr145Ala) c.877A>G (p.Thr293Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673710T>G | CA397836301 | TP53 | c.910A>C (p.Thr304Pro) c.514A>C (p.Thr172Pro) c.631A>C (p.Thr211Pro) c.889A>C (p.Thr297Pro) c.782+471A>C (n.782+471A>C) c.793A>C (p.Thr265Pro) c.433A>C (p.Thr145Pro) c.877A>C (p.Thr293Pro) | |
| 17 | g.7673710T= | CA2245948462 | TP53 | c.910A= (p.Thr304=) c.514A= (p.Thr172=) c.631A= (p.Thr211=) c.889A= (p.Thr297=) c.782+471A= (n.782+471A=) c.793A= (p.Thr265=) c.433A= (p.Thr145=) c.877A= (p.Thr293=) | |
| 17 | g.7673710_7673713dup | CA1139771733 | TP53 | c.907_910dup (p.Thr304LysfsTer3) c.511_514dup (p.Thr172LysfsTer3) c.628_631dup (p.Thr211LysfsTer3) c.886_889dup (p.Thr297LysfsTer3) c.782+468_782+471dup (n.782+468_782+471dup) c.790_793dup (p.Thr265LysfsTer3) c.430_433dup (p.Thr145LysfsTer3) c.874_877dup (p.Thr293LysfsTer3) | ClinVar |
| 17 | g.7673710_7673724delinsTGCTCCCTGGGGGCA | CA2245948463 | TP53 | c.896_910delinsTGCCCCCAGGGAGCA (p.Leu299=) c.500_514delinsTGCCCCCAGGGAGCA (p.Leu167=) c.617_631delinsTGCCCCCAGGGAGCA (p.Leu206=) c.875_889delinsTGCCCCCAGGGAGCA (p.Leu292=) c.782+457_782+471delinsTGCCCCCAGGGAGCA (n.782+457_782+471delinsTGCCCCCAGGGAGCA) c.779_793delinsTGCCCCCAGGGAGCA (p.Leu260=) c.419_433delinsTGCCCCCAGGGAGCA (p.Leu140=) c.863_877delinsTGCCCCCAGGGAGCA (p.Leu288=) | |
| 17 | g.7673711G>A | CA497715400 | TP53 | c.909C>T (p.Ser303=) c.513C>T (p.Ser171=) c.630C>T (p.Ser210=) c.888C>T (p.Ser296=) c.782+470C>T (n.782+470C>T) c.792C>T (p.Ser264=) c.432C>T (p.Ser144=) c.876C>T (p.Ser292=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7673711G>C | CA397836305 | TP53 | c.909C>G (p.Ser303Arg) c.513C>G (p.Ser171Arg) c.630C>G (p.Ser210Arg) c.888C>G (p.Ser296Arg) c.782+470C>G (n.782+470C>G) c.792C>G (p.Ser264Arg) c.432C>G (p.Ser144Arg) c.876C>G (p.Ser292Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673711G= | CA2245948472 | TP53 | c.909C= (p.Ser303=) c.513C= (p.Ser171=) c.630C= (p.Ser210=) c.888C= (p.Ser296=) c.782+470C= (n.782+470C=) c.792C= (p.Ser264=) c.432C= (p.Ser144=) c.876C= (p.Ser292=) | |
| 17 | g.7673711G>T | CA397836307 | TP53 | c.909C>A (p.Ser303Arg) c.513C>A (p.Ser171Arg) c.630C>A (p.Ser210Arg) c.888C>A (p.Ser296Arg) c.782+470C>A (n.782+470C>A) c.792C>A (p.Ser264Arg) c.432C>A (p.Ser144Arg) c.876C>A (p.Ser292Arg) | dbSNP |
| 17 | g.7673712_7673720del | CA645587420 | TP53 | c.901_909del (p.Pro301_Ser303del) c.505_513del (p.Pro169_Ser171del) c.622_630del (p.Pro208_Ser210del) c.880_888del (p.Pro294_Ser296del) c.782+462_782+470del (n.782+462_782+470del) c.784_792del (p.Pro262_Ser264del) c.424_432del (p.Pro142_Ser144del) c.868_876del (p.Pro290_Ser292del) | COSMIC |
| 17 | g.7673715_7673728del | CA645587421 | TP53 | c.896_909del (p.Leu299HisfsTer2) c.500_513del (p.Leu167HisfsTer2) c.617_630del (p.Leu206HisfsTer2) c.875_888del (p.Leu292HisfsTer2) c.782+457_782+470del (n.782+457_782+470del) c.779_792del (p.Leu260HisfsTer2) c.419_432del (p.Leu140HisfsTer2) c.863_876del (p.Leu288HisfsTer2) | ClinVar dbSNP COSMIC |
| 17 | g.7673711_7673734del | CA645587419 | TP53 | c.886_909del (p.His296_Ser303del) c.490_513del (p.His164_Ser171del) c.607_630del (p.His203_Ser210del) c.865_888del (p.His289_Ser296del) c.782+447_782+470del (n.782+447_782+470del) c.769_792del (p.His257_Ser264del) c.409_432del (p.His137_Ser144del) c.853_876del (p.His285_Ser292del) | COSMIC |
| 17 | g.7673712C>A | CA397836310 | TP53 | c.908G>T (p.Ser303Ile) c.512G>T (p.Ser171Ile) c.629G>T (p.Ser210Ile) c.887G>T (p.Ser296Ile) c.782+469G>T (n.782+469G>T) c.791G>T (p.Ser264Ile) c.431G>T (p.Ser144Ile) c.875G>T (p.Ser292Ile) | dbSNP |
| 17 | g.7673712C= | CA2245948500 | TP53 | c.908G= (p.Ser303=) c.512G= (p.Ser171=) c.629G= (p.Ser210=) c.887G= (p.Ser296=) c.782+469G= (n.782+469G=) c.791G= (p.Ser264=) c.431G= (p.Ser144=) c.875G= (p.Ser292=) | |
| 17 | g.7673712C>G | CA397836312 | TP53 | c.908G>C (p.Ser303Thr) c.512G>C (p.Ser171Thr) c.629G>C (p.Ser210Thr) c.887G>C (p.Ser296Thr) c.782+469G>C (n.782+469G>C) c.791G>C (p.Ser264Thr) c.431G>C (p.Ser144Thr) c.875G>C (p.Ser292Thr) | dbSNP COSMIC |
| 17 | g.7673712C>T | CA10580912 | TP53 | c.908G>A (p.Ser303Asn) c.512G>A (p.Ser171Asn) c.629G>A (p.Ser210Asn) c.887G>A (p.Ser296Asn) c.782+469G>A (n.782+469G>A) c.791G>A (p.Ser264Asn) c.431G>A (p.Ser144Asn) c.875G>A (p.Ser292Asn) | ClinVar dbSNP COSMIC |
| 17 | g.7673712_7673713insCCCC | CA913190579 | TP53 | c.908_909insGGGG (p.Ser303ArgfsTer4) c.512_513insGGGG (p.Ser171ArgfsTer4) c.629_630insGGGG (p.Ser210ArgfsTer4) c.887_888insGGGG (p.Ser296ArgfsTer4) c.782+469_782+470insGGGG (n.782+469_782+470insGGGG) c.791_792insGGGG (p.Ser264ArgfsTer4) c.431_432insGGGG (p.Ser144ArgfsTer4) c.875_876insGGGG (p.Ser292ArgfsTer4) | ClinVar dbSNP |
| 17 | g.7673712_7673716del | CA645587423 | TP53 | c.904_908del (p.Gly302HisfsTer2) c.508_512del (p.Gly170HisfsTer2) c.625_629del (p.Gly209HisfsTer2) c.883_887del (p.Gly295HisfsTer2) c.782+465_782+469del (n.782+465_782+469del) c.787_791del (p.Gly263HisfsTer2) c.427_431del (p.Gly143HisfsTer2) c.871_875del (p.Gly291HisfsTer2) | COSMIC |
| 17 | g.7673714_7673717del | CA645587422 | TP53 | c.905_908del (p.Gly302AlafsTer?) c.509_512del (p.Gly170AlafsTer?) c.626_629del (p.Gly209AlafsTer?) c.884_887del (p.Gly295AlafsTer?) c.782+466_782+469del (n.782+466_782+469del) c.788_791del (p.Gly263AlafsTer?) c.428_431del (p.Gly143AlafsTer?) c.872_875del (p.Gly291AlafsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673713del | CA497715423 | TP53 | c.907del (p.Ser303AlafsTer?) c.511del (p.Ser171AlafsTer?) c.628del (p.Ser210AlafsTer?) c.886del (p.Ser296AlafsTer?) c.782+468del (n.782+468del) c.790del (p.Ser264AlafsTer?) c.430del (p.Ser144AlafsTer?) c.874del (p.Ser292AlafsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673713T>A | CA397836317 | TP53 | c.907A>T (p.Ser303Cys) c.511A>T (p.Ser171Cys) c.628A>T (p.Ser210Cys) c.886A>T (p.Ser296Cys) c.782+468A>T (n.782+468A>T) c.790A>T (p.Ser264Cys) c.430A>T (p.Ser144Cys) c.874A>T (p.Ser292Cys) | COSMIC |
| 17 | g.7673713T>C | CA000491 | TP53 | c.907A>G (p.Ser303Gly) c.511A>G (p.Ser171Gly) c.628A>G (p.Ser210Gly) c.886A>G (p.Ser296Gly) c.782+468A>G (n.782+468A>G) c.790A>G (p.Ser264Gly) c.430A>G (p.Ser144Gly) c.874A>G (p.Ser292Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7673713T>G | CA397836320 | TP53 | c.907A>C (p.Ser303Arg) c.511A>C (p.Ser171Arg) c.628A>C (p.Ser210Arg) c.886A>C (p.Ser296Arg) c.782+468A>C (n.782+468A>C) c.790A>C (p.Ser264Arg) c.430A>C (p.Ser144Arg) c.874A>C (p.Ser292Arg) | |
| 17 | g.7673713T= | CA2245948516 | TP53 | c.907A= (p.Ser303=) c.511A= (p.Ser171=) c.628A= (p.Ser210=) c.886A= (p.Ser296=) c.782+468A= (n.782+468A=) c.790A= (p.Ser264=) c.430A= (p.Ser144=) c.874A= (p.Ser292=) | |
| 17 | g.7673713_7673714delinsTC | CA2245948519 | TP53 | c.906_907delinsGA (p.Gly302=) c.510_511delinsGA (p.Gly170=) c.627_628delinsGA (p.Gly209=) c.885_886delinsGA (p.Gly295=) c.782+467_782+468delinsGA (n.782+467_782+468delinsGA) c.789_790delinsGA (p.Gly263=) c.429_430delinsGA (p.Gly143=) c.873_874delinsGA (p.Gly291=) | |
| 17 | g.7673714C>A | CA497715428 | TP53 | c.906G>T (p.Gly302=) c.510G>T (p.Gly170=) c.627G>T (p.Gly209=) c.885G>T (p.Gly295=) c.782+467G>T (n.782+467G>T) c.789G>T (p.Gly263=) c.429G>T (p.Gly143=) c.873G>T (p.Gly291=) | dbSNP COSMIC |
| 17 | g.7673714C>G | CA497715430 | TP53 | c.906G>C (p.Gly302=) c.510G>C (p.Gly170=) c.627G>C (p.Gly209=) c.885G>C (p.Gly295=) c.782+467G>C (n.782+467G>C) c.789G>C (p.Gly263=) c.429G>C (p.Gly143=) c.873G>C (p.Gly291=) | dbSNP COSMIC |
| 17 | g.7673714C>T | CA497715432 | TP53 | c.906G>A (p.Gly302=) c.510G>A (p.Gly170=) c.627G>A (p.Gly209=) c.885G>A (p.Gly295=) c.782+467G>A (n.782+467G>A) c.789G>A (p.Gly263=) c.429G>A (p.Gly143=) c.873G>A (p.Gly291=) | ClinVar dbSNP |
| 17 | g.7673716del | CA000489 | TP53 | c.906del (p.Ser303AlafsTer?) c.510del (p.Ser171AlafsTer?) c.627del (p.Ser210AlafsTer?) c.885del (p.Ser296AlafsTer?) c.782+467del (n.782+467del) c.789del (p.Ser264AlafsTer?) c.429del (p.Ser144AlafsTer?) c.873del (p.Ser292AlafsTer?) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7673715C>A | CA397836328 | TP53 | c.905G>T (p.Gly302Val) c.509G>T (p.Gly170Val) c.626G>T (p.Gly209Val) c.884G>T (p.Gly295Val) c.782+466G>T (n.782+466G>T) c.788G>T (p.Gly263Val) c.428G>T (p.Gly143Val) c.872G>T (p.Gly291Val) | dbSNP |
| 17 | g.7673715C= | CA2245948530 | TP53 | c.905G= (p.Gly302=) c.509G= (p.Gly170=) c.626G= (p.Gly209=) c.884G= (p.Gly295=) c.782+466G= (n.782+466G=) c.788G= (p.Gly263=) c.428G= (p.Gly143=) c.872G= (p.Gly291=) |