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.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.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.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.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.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.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.7675216_7675227del | CA645589179 | TP53 | c.385_396del (p.Ala129_Lys132del) c.-12_-1del (n.-12_-1del) c.106_117del (p.Ala36_Lys39del) c.376-12_376-1del (n.376-12_376-1del) n.641_652del c.268_279del (p.Ala90_Lys93del) c.-93_-82del (n.-93_-82del) c.352_363del (p.Ala118_Lys121del) | COSMIC |
| 17 | g.7675218_7675238del | CA645589180 | TP53 | c.376_396del c.-21_-1del c.97_117del c.376-21_376-1del (n.376-21_376-1del) c.-21_-1del (n.-21_-1del) n.632_652del c.259_279del c.-102_-82del (n.-102_-82del) c.343_363del (p.Tyr115_Lys121del) | COSMIC |
| 17 | g.7675217_7675231del | CA645589183 | TP53 | c.381_395del (p.Pro128_Lys132del) c.-16_-2del (n.-16_-2del) c.102_116del (p.Pro35_Lys39del) c.376-16_376-2del (n.376-16_376-2del) n.637_651del c.264_278del (p.Pro89_Lys93del) c.-97_-83del (n.-97_-83del) c.348_362del (p.Pro117_Lys121del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675217_7675306delinsTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACG | CA2245930491 | TP53 | c.376-70_395delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.-21-70_-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.97-70_116delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.376-91_376-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA (n.376-91_376-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA) c.-91_-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA (n.-91_-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA) n.632-70_651delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.259-70_278delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.-172_-83delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA (n.-172_-83delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA) c.341-68_362delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA | |
| 17 | g.7675218_7675236del | CA891842269 | TP53 | c.376_394del (p.Tyr126ArgfsTer?) c.-21_-3del (n.-21_-3del) c.97_115del (p.Tyr33ArgfsTer?) c.376-21_376-3del (n.376-21_376-3del) n.632_650del c.259_277del (p.Tyr87ArgfsTer?) c.-102_-84del (n.-102_-84del) c.343_361del (p.Tyr115ArgfsTer?) | |
| 17 | g.7675221_7675240del | CA891842270 | TP53 | c.376-1_394del c.-21-1_-3del c.97-1_115del c.376-22_376-3del (n.376-22_376-3del) c.-22_-3del (n.-22_-3del) n.632-1_650del c.259-1_277del c.-103_-84del (n.-103_-84del) c.342_361del | |
| 17 | g.7675218_7675306delinsC | CA1139665133 | TP53 | c.376-70_394delinsG c.-21-70_-3delinsG c.97-70_115delinsG c.376-91_376-3delinsG (n.376-91_376-3delinsG) c.-91_-3delinsG (n.-91_-3delinsG) n.632-70_650delinsG c.259-70_277delinsG c.-172_-84delinsG (n.-172_-84delinsG) c.341-68_361delinsG | ClinVar dbSNP |
| 17 | g.7675219_7675227del | CA645589189 | TP53 | c.385_393del (p.Ala129_Asn131del) c.-12_-4del (n.-12_-4del) c.106_114del (p.Ala36_Asn38del) c.376-12_376-4del (n.376-12_376-4del) n.641_649del c.268_276del (p.Ala90_Asn92del) c.-93_-85del (n.-93_-85del) c.352_360del (p.Ala118_Asn120del) | COSMIC |
| 17 | g.7675220_7675230del | CA645589188 | TP53 | c.383_393del (p.Pro128GlnfsTer17) c.-14_-4del (n.-14_-4del) c.104_114del (p.Pro35GlnfsTer17) c.376-14_376-4del (n.376-14_376-4del) n.639_649del c.266_276del (p.Pro89GlnfsTer17) c.-95_-85del (n.-95_-85del) c.350_360del (p.Pro117GlnfsTer17) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675219_7675236del | CA645589190 | TP53 | c.376_393del (p.Tyr126_Asn131del) c.-21_-4del (n.-21_-4del) c.97_114del (p.Tyr33_Asn38del) c.376-21_376-4del (n.376-21_376-4del) n.632_649del c.259_276del (p.Tyr87_Asn92del) c.-102_-85del (n.-102_-85del) c.343_360del (p.Tyr115_Asn120del) | COSMIC |
| 17 | g.7675223_7675226dup | CA645589193 | TP53 | c.387_390dup (p.Asn131ProfsTer19) c.-10_-7dup (n.-10_-7dup) c.108_111dup (p.Asn38ProfsTer19) c.376-10_376-7dup (n.376-10_376-7dup) n.643_646dup c.270_273dup (p.Asn92ProfsTer19) c.-91_-88dup (n.-91_-88dup) c.354_357dup (p.Asn120ProfsTer19) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675223_7675226del | CA645589192 | TP53 | c.387_390del (p.Leu130ThrfsTer?) c.-10_-7del (n.-10_-7del) c.108_111del (p.Leu37ThrfsTer?) c.376-10_376-7del (n.376-10_376-7del) n.643_646del c.270_273del (p.Leu91ThrfsTer?) c.-91_-88del (n.-91_-88del) c.354_357del (p.Leu119ThrfsTer?) | COSMIC |
| 17 | g.7675223_7675231del | CA645589194 | TP53 | c.382_390del (p.Pro128_Leu130del) c.-15_-7del (n.-15_-7del) c.103_111del (p.Pro35_Leu37del) c.376-15_376-7del (n.376-15_376-7del) n.638_646del c.265_273del (p.Pro89_Leu91del) c.-96_-88del (n.-96_-88del) c.349_357del (p.Pro117_Leu119del) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675223_7675236del | CA645589199 | TP53 | c.376_389del (p.Tyr126GlnfsTer18) c.-21_-8del (n.-21_-8del) c.97_110del (p.Tyr33GlnfsTer18) c.376-21_376-8del (n.376-21_376-8del) n.632_645del c.259_272del (p.Tyr87GlnfsTer18) c.-102_-89del (n.-102_-89del) c.343_356del (p.Tyr115GlnfsTer18) | COSMIC |
| 17 | g.7675226dup | CA645589203 | TP53 | c.388dup (p.Leu130ProfsTer19) c.-9dup (n.-9dup) c.109dup (p.Leu37ProfsTer19) c.376-9dup (n.376-9dup) n.644dup c.271dup (p.Leu91ProfsTer19) c.-90dup (n.-90dup) c.355dup (p.Leu119ProfsTer19) | ClinVar COSMIC |
| 17 | g.7675225_7675226dup | CA645589201 | TP53 | c.387_388dup (p.Leu130ProfsTer?) c.-10_-9dup (n.-10_-9dup) c.108_109dup (p.Leu37ProfsTer?) c.376-10_376-9dup (n.376-10_376-9dup) n.643_644dup c.270_271dup (p.Leu91ProfsTer?) c.-91_-90dup (n.-91_-90dup) c.354_355dup (p.Leu119ProfsTer?) | COSMIC |
| 17 | g.7675226del | CA497925756 | TP53 | c.388del (p.Leu130SerfsTer?) c.-9del (n.-9del) c.109del (p.Leu37SerfsTer?) c.376-9del (n.376-9del) n.644del c.271del (p.Leu91SerfsTer?) c.-90del (n.-90del) c.355del (p.Leu119SerfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675227_7675232del | CA645589204 | TP53 | c.383_388del (p.Pro128_Ala129del) c.-14_-9del (n.-14_-9del) c.104_109del (p.Pro35_Ala36del) c.376-14_376-9del (n.376-14_376-9del) n.639_644del c.266_271del (p.Pro89_Ala90del) c.-95_-90del (n.-95_-90del) c.350_355del (p.Pro117_Ala118del) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675225_7675232del | CA645589202 | TP53 | c.381_388del (p.Pro128GlnfsTer18) c.-16_-9del (n.-16_-9del) c.102_109del (p.Pro35GlnfsTer18) c.376-16_376-9del (n.376-16_376-9del) n.637_644del c.264_271del (p.Pro89GlnfsTer18) c.-97_-90del (n.-97_-90del) c.348_355del (p.Pro117GlnfsTer18) | COSMIC |
| 17 | g.7675226_7676561del | CA645589205 | TP53 | c.36_388del c.-21-1323_-9del c.36_109del c.36_376-9del n.175_644del c.-199_271del c.-82_271del c.36_355del | COSMIC |
| 17 | g.7675225_7675227del | CA645589206 | TP53 | c.385_387del (p.Ala129del) c.-12_-10del (n.-12_-10del) c.106_108del (p.Ala36del) c.376-12_376-10del (n.376-12_376-10del) n.641_643del c.268_270del (p.Ala90del) c.-93_-91del (n.-93_-91del) c.352_354del (p.Ala118del) | COSMIC |
| 17 | g.7675226G>A | CA000150 | TP53 | c.386C>T (p.Ala129Val) c.-11C>T (n.-11C>T) c.107C>T (p.Ala36Val) c.376-11C>T (n.376-11C>T) n.642C>T c.269C>T (p.Ala90Val) c.-92C>T (n.-92C>T) c.353C>T (p.Ala118Val) | ClinVar dbSNP COSMIC |
| 17 | g.7675226G>C | CA397842985 | TP53 | c.386C>G (p.Ala129Gly) c.-11C>G (n.-11C>G) c.107C>G (p.Ala36Gly) c.376-11C>G (n.376-11C>G) n.642C>G c.269C>G (p.Ala90Gly) c.-92C>G (n.-92C>G) c.353C>G (p.Ala118Gly) | ClinVar dbSNP COSMIC |
| 17 | g.7675226G= | CA2245930688 | TP53 | c.386C= (p.Ala129=) c.-11C= (n.-11C=) c.107C= (p.Ala36=) c.376-11C= (n.376-11C=) n.642C= c.269C= (p.Ala90=) c.-92C= (n.-92C=) c.353C= (p.Ala118=) | |
| 17 | g.7675226G>T | CA397842988 | TP53 | c.386C>A (p.Ala129Asp) c.-11C>A (n.-11C>A) c.107C>A (p.Ala36Asp) c.376-11C>A (n.376-11C>A) n.642C>A c.269C>A (p.Ala90Asp) c.-92C>A (n.-92C>A) c.353C>A (p.Ala118Asp) | ClinVar COSMIC |
| 17 | g.7675227del | CA497925761 | TP53 | c.385del (p.Ala129ProfsTer?) c.-12del (n.-12del) c.106del (p.Ala36ProfsTer?) c.376-12del (n.376-12del) n.641del c.268del (p.Ala90ProfsTer?) c.-93del (n.-93del) c.352del (p.Ala118ProfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675227C>A | CA397842991 | TP53 | c.385G>T (p.Ala129Ser) c.-12G>T (n.-12G>T) c.106G>T (p.Ala36Ser) c.376-12G>T (n.376-12G>T) n.641G>T c.268G>T (p.Ala90Ser) c.-93G>T (n.-93G>T) c.352G>T (p.Ala118Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7675227C= | CA2245930699 | TP53 | c.385G= (p.Ala129=) c.-12G= (n.-12G=) c.106G= (p.Ala36=) c.376-12G= (n.376-12G=) n.641G= c.268G= (p.Ala90=) c.-93G= (n.-93G=) c.352G= (p.Ala118=) | |
| 17 | g.7675227C>G | CA397842994 | TP53 | c.385G>C (p.Ala129Pro) c.-12G>C (n.-12G>C) c.106G>C (p.Ala36Pro) c.376-12G>C (n.376-12G>C) n.641G>C c.268G>C (p.Ala90Pro) c.-93G>C (n.-93G>C) c.352G>C (p.Ala118Pro) | dbSNP |
| 17 | g.7675227C>T | CA397842995 | TP53 | c.385G>A (p.Ala129Thr) c.-12G>A (n.-12G>A) c.106G>A (p.Ala36Thr) c.376-12G>A (n.376-12G>A) n.641G>A c.268G>A (p.Ala90Thr) c.-93G>A (n.-93G>A) c.352G>A (p.Ala118Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7675227_7675228delinsG | CA2573131673 | TP53 | c.384_385delinsC (p.Ala129ProfsTer?) c.-13_-12delinsC (n.-13_-12delinsC) c.105_106delinsC (p.Ala36ProfsTer?) c.376-13_376-12delinsC (n.376-13_376-12delinsC) n.640_641delinsC c.267_268delinsC (p.Ala90ProfsTer?) c.-94_-93delinsC (n.-94_-93delinsC) c.351_352delinsC (p.Ala118ProfsTer?) | |
| 17 | g.7675228A= | CA2245930708 | TP53 | c.384T= (p.Pro128=) c.-13T= (n.-13T=) c.105T= (p.Pro35=) c.376-13T= (n.376-13T=) n.640T= c.267T= (p.Pro89=) c.-94T= (n.-94T=) c.351T= (p.Pro117=) | |
| 17 | g.7675228A>C | CA497718220 | TP53 | c.384T>G (p.Pro128=) c.-13T>G (n.-13T>G) c.105T>G (p.Pro35=) c.376-13T>G (n.376-13T>G) n.640T>G c.267T>G (p.Pro89=) c.-94T>G (n.-94T>G) c.351T>G (p.Pro117=) | COSMIC |
| 17 | g.7675228A>G | CA497718224 | TP53 | c.384T>C (p.Pro128=) c.-13T>C (n.-13T>C) c.105T>C (p.Pro35=) c.376-13T>C (n.376-13T>C) n.640T>C c.267T>C (p.Pro89=) c.-94T>C (n.-94T>C) c.351T>C (p.Pro117=) | ClinVar dbSNP |
| 17 | g.7675228A>T | CA497718223 | TP53 | c.384T>A (p.Pro128=) c.-13T>A (n.-13T>A) c.105T>A (p.Pro35=) c.376-13T>A (n.376-13T>A) n.640T>A c.267T>A (p.Pro89=) c.-94T>A (n.-94T>A) c.351T>A (p.Pro117=) | ClinVar |
| 17 | g.7675228_7675229delinsAG | CA2245930711 | TP53 | c.383_384delinsCT (p.Pro128=) c.-14_-13delinsCT (n.-14_-13delinsCT) c.104_105delinsCT (p.Pro35=) c.376-14_376-13delinsCT (n.376-14_376-13delinsCT) n.639_640delinsCT c.266_267delinsCT (p.Pro89=) c.-95_-94delinsCT (n.-95_-94delinsCT) c.350_351delinsCT (p.Pro117=) | |
| 17 | g.7675228_7675230del | CA645589207 | TP53 | c.382_384del (p.Pro128del) c.-15_-13del (n.-15_-13del) c.103_105del (p.Pro35del) c.376-15_376-13del (n.376-15_376-13del) n.638_640del c.265_267del (p.Pro89del) c.-96_-94del (n.-96_-94del) c.349_351del (p.Pro117del) | COSMIC |
| 17 | g.7675229G>A | CA397843895 | TP53 | c.383C>T (p.Pro128Leu) c.-14C>T (n.-14C>T) c.104C>T (p.Pro35Leu) c.376-14C>T (n.376-14C>T) c.383C>T n.639C>T c.266C>T (p.Pro89Leu) c.-95C>T (n.-95C>T) c.350C>T (p.Pro117Leu) | ClinVar dbSNP COSMIC |