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.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.7675995_7676272del | CA645589239 | TP53 | c.97_374del (p.Ser33ValfsTer23) c.-21-1036_-21-759del (n.-21-1036_-21-759del) c.96+110_96+387del (n.96+110_96+387del) c.97_374del (p.Ser33AspfsTer16) c.97_374del (p.Ser33ValfsTer?) n.353_630del c.-21_257del c.97_340+30del | COSMIC |
| 17 | g.7676096_7676232del | CA645589328 | TP53 | c.141_277del (p.Asp48ValfsTer?) c.-21-992_-21-856del (n.-21-992_-21-856del) c.96+154_96+290del (n.96+154_96+290del) n.397_533del c.24_160del (p.Asp9ValfsTer?) | COSMIC |
| 17 | g.7676181_7676233del | CA1139768370 | TP53 | c.140_192del (p.Pro47GlnfsTer?) c.-21-993_-21-941del (n.-21-993_-21-941del) c.96+153_96+205del (n.96+153_96+205del) n.396_448del c.23_75del (p.Pro8GlnfsTer?) | |
| 17 | g.7676181_7676220del | CA645589384 | TP53 | c.150_189del (p.Glu51ProfsTer?) c.-21-983_-21-944del (n.-21-983_-21-944del) c.96+163_96+202del (n.96+163_96+202del) n.406_445del c.33_72del (p.Glu12ProfsTer?) | COSMIC |
| 17 | g.7676194_7676218del | CA645589390 | TP53 | c.152_176del (p.Glu51ValfsTer?) c.-21-981_-21-957del (n.-21-981_-21-957del) c.96+165_96+189del (n.96+165_96+189del) n.408_432del c.35_59del (p.Glu12ValfsTer?) | COSMIC |
| 17 | g.7676203_7676215del | CA645589396 | TP53 | c.154_166del (p.Gln52LysfsTer?) c.-21-979_-21-967del (n.-21-979_-21-967del) c.96+167_96+179del (n.96+167_96+179del) n.410_422del c.37_49del (p.Gln13LysfsTer?) | COSMIC |
| 17 | g.7676207_7676216del | CA2580095113 | TP53 | c.155_164del (p.Gln52LeufsTer?) c.-21-978_-21-969del (n.-21-978_-21-969del) c.96+168_96+177del (n.96+168_96+177del) n.411_420del c.38_47del (p.Gln13LeufsTer?) | ClinVar |
| 17 | g.7676208_7676230del | CA645589400 | TP53 | c.140_162del (p.Pro47HisfsTer2) c.-21-993_-21-971del (n.-21-993_-21-971del) c.96+153_96+175del (n.96+153_96+175del) n.396_418del c.23_45del (p.Pro8HisfsTer2) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676213_7676219del | CA891842288 | TP53 | c.152_158del (p.Glu51GlyfsTer?) c.-21-981_-21-975del (n.-21-981_-21-975del) c.96+165_96+171del (n.96+165_96+171del) n.408_414del c.35_41del (p.Glu12GlyfsTer?) | |
| 17 | g.7676214_7676221del | CA645589402 | TP53 | c.150_157del (p.Ile50MetfsTer4) c.-21-983_-21-976del (n.-21-983_-21-976del) c.96+163_96+170del (n.96+163_96+170del) n.406_413del c.33_40del (p.Ile11MetfsTer4) | COSMIC |
| 17 | g.7676214_7676217del | CA891842289 | TP53 | c.153_156del (p.Glu51AspfsTer?) c.-21-980_-21-977del (n.-21-980_-21-977del) c.96+166_96+169del (n.96+166_96+169del) n.409_412del c.36_39del (p.Glu12AspfsTer?) | |
| 17 | g.7676215G>A | CA397846527 | TP53 | c.154C>T (p.Gln52Ter) c.-21-979C>T (n.-21-979C>T) c.96+167C>T (n.96+167C>T) n.410C>T c.37C>T (p.Gln13Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676215G>C | CA397846538 | TP53 | c.154C>G (p.Gln52Glu) c.-21-979C>G (n.-21-979C>G) c.96+167C>G (n.96+167C>G) n.410C>G c.37C>G (p.Gln13Glu) | |
| 17 | g.7676215G= | CA2245935368 | TP53 | c.154C= (p.Gln52=) c.-21-979C= (n.-21-979C=) c.96+167C= (n.96+167C=) n.410C= c.37C= (p.Gln13=) | |
| 17 | g.7676215G>T | CA397846541 | TP53 | c.154C>A (p.Gln52Lys) c.-21-979C>A (n.-21-979C>A) c.96+167C>A (n.96+167C>A) n.410C>A c.37C>A (p.Gln13Lys) | |
| 17 | g.7676216T>A | CA397846552 | TP53 | c.153A>T (p.Glu51Asp) c.-21-980A>T (n.-21-980A>T) c.96+166A>T (n.96+166A>T) n.409A>T c.36A>T (p.Glu12Asp) | dbSNP |
| 17 | g.7676216T>C | CA497926032 | TP53 | c.153A>G (p.Glu51=) c.-21-980A>G (n.-21-980A>G) c.96+166A>G (n.96+166A>G) n.409A>G c.36A>G (p.Glu12=) | dbSNP gnomAD v4 COSMIC |
| 17 | g.7676216T>G | CA397846548 | TP53 | c.153A>C (p.Glu51Asp) c.-21-980A>C (n.-21-980A>C) c.96+166A>C (n.96+166A>C) n.409A>C c.36A>C (p.Glu12Asp) | dbSNP |
| 17 | g.7676216T= | CA2245935384 | TP53 | c.153A= (p.Glu51=) c.-21-980A= (n.-21-980A=) c.96+166A= (n.96+166A=) n.409A= c.36A= (p.Glu12=) | |
| 17 | g.7676217dup | CA913191064 | TP53 | c.153dup (p.Gln52ThrfsTer5) c.-21-980dup (n.-21-980dup) c.96+166dup (n.96+166dup) n.409dup c.36dup (p.Gln13ThrfsTer5) | ClinVar dbSNP |
| 17 | g.7676217del | CA645589404 | TP53 | c.153del (p.Glu51AspfsTer?) c.-21-980del (n.-21-980del) c.96+166del (n.96+166del) n.409del c.36del (p.Glu12AspfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676217_7676239dup | CA916081953 | TP53 | c.131_153dup (p.Gln52CysfsTer?) c.-21-1002_-21-980dup (n.-21-1002_-21-980dup) c.96+144_96+166dup (n.96+144_96+166dup) n.387_409dup c.14_36dup (p.Gln13CysfsTer?) | ClinVar dbSNP |
| 17 | g.7676217T>A | CA397846557 | TP53 | c.152A>T (p.Glu51Val) c.-21-981A>T (n.-21-981A>T) c.96+165A>T (n.96+165A>T) n.408A>T c.35A>T (p.Glu12Val) | dbSNP |
| 17 | g.7676217T>C | CA397846560 | TP53 | c.152A>G (p.Glu51Gly) c.-21-981A>G (n.-21-981A>G) c.96+165A>G (n.96+165A>G) n.408A>G c.35A>G (p.Glu12Gly) | ClinVar dbSNP |
| 17 | g.7676217T>G | CA397846563 | TP53 | c.152A>C (p.Glu51Ala) c.-21-981A>C (n.-21-981A>C) c.96+165A>C (n.96+165A>C) n.408A>C c.35A>C (p.Glu12Ala) | |
| 17 | g.7676217T= | CA2245935394 | TP53 | c.152A= (p.Glu51=) c.-21-981A= (n.-21-981A=) c.96+165A= (n.96+165A=) n.408A= c.35A= (p.Glu12=) | |
| 17 | g.7676218_7676221del | CA645589405 | TP53 | c.149_152del (p.Ile50AsnfsTer?) c.-21-984_-21-981del (n.-21-984_-21-981del) c.96+162_96+165del (n.96+162_96+165del) n.405_408del c.32_35del (p.Ile11AsnfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676217_7676227dup | CA913203396 | TP53 | c.142_152dup (p.Gln52ThrfsTer?) c.-21-991_-21-981dup (n.-21-991_-21-981dup) c.96+155_96+165dup (n.96+155_96+165dup) n.398_408dup c.25_35dup (p.Gln13ThrfsTer?) | ClinVar dbSNP |
| 17 | g.7676218del | CA497926033 | TP53 | c.151del (p.Glu51AsnfsTer?) c.-21-982del (n.-21-982del) c.96+164del (n.96+164del) n.407del c.34del (p.Glu12AsnfsTer?) | COSMIC |
| 17 | g.7676218C>A | CA397846566 | TP53 | c.151G>T (p.Glu51Ter) c.-21-982G>T (n.-21-982G>T) c.96+164G>T (n.96+164G>T) n.407G>T c.34G>T (p.Glu12Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676218C= | CA2245935421 | TP53 | c.151G= (p.Glu51=) c.-21-982G= (n.-21-982G=) c.96+164G= (n.96+164G=) n.407G= c.34G= (p.Glu12=) | |
| 17 | g.7676218C>G | CA397846570 | TP53 | c.151G>C (p.Glu51Gln) c.-21-982G>C (n.-21-982G>C) c.96+164G>C (n.96+164G>C) n.407G>C c.34G>C (p.Glu12Gln) | |
| 17 | g.7676218C>T | CA397846575 | TP53 | c.151G>A (p.Glu51Lys) c.-21-982G>A (n.-21-982G>A) c.96+164G>A (n.96+164G>A) n.407G>A c.34G>A (p.Glu12Lys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7676218dup | CA645589406 | TP53 | c.151dup (p.Glu51GlyfsTer6) c.-21-982dup (n.-21-982dup) c.96+164dup (n.96+164dup) n.407dup c.34dup (p.Glu12GlyfsTer6) | COSMIC COSMIC COSMIC |
| 17 | g.7676218_7676219insG | CA497926034 | TP53 | c.150_151insC (p.Glu51ArgfsTer6) c.-21-983_-21-982insC (n.-21-983_-21-982insC) c.96+163_96+164insC (n.96+163_96+164insC) n.406_407insC c.33_34insC (p.Glu12ArgfsTer6) | |
| 17 | g.7676219A>C | CA397846576 | TP53 | c.150T>G (p.Ile50Met) c.-21-983T>G (n.-21-983T>G) c.96+163T>G (n.96+163T>G) n.406T>G c.33T>G (p.Ile11Met) | |
| 17 | g.7676219A>G | CA497926035 | TP53 | c.150T>C (p.Ile50=) c.-21-983T>C (n.-21-983T>C) c.96+163T>C (n.96+163T>C) n.406T>C c.33T>C (p.Ile11=) | dbSNP gnomAD v4 |
| 17 | g.7676219A>T | CA497926036 | TP53 | c.150T>A (p.Ile50=) c.-21-983T>A (n.-21-983T>A) c.96+163T>A (n.96+163T>A) n.406T>A c.33T>A (p.Ile11=) | dbSNP |
| 17 | g.7676220del | CA497926037 | TP53 | c.150del (p.Ile50MetfsTer?) c.-21-983del (n.-21-983del) c.96+163del (n.96+163del) n.406del c.33del (p.Ile11MetfsTer?) | COSMIC COSMIC COSMIC |
| 17 | g.7676220A= | CA2245935439 | TP53 | c.149T= (p.Ile50=) c.-21-984T= (n.-21-984T=) c.96+162T= (n.96+162T=) n.405T= c.32T= (p.Ile11=) | |
| 17 | g.7676220A>C | CA397846579 | TP53 | c.149T>G (p.Ile50Ser) c.-21-984T>G (n.-21-984T>G) c.96+162T>G (n.96+162T>G) n.405T>G c.32T>G (p.Ile11Ser) | |
| 17 | g.7676220A>G | CA337284 | TP53 | c.149T>C (p.Ile50Thr) c.-21-984T>C (n.-21-984T>C) c.96+162T>C (n.96+162T>C) n.405T>C c.32T>C (p.Ile11Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7676220A>T | CA000059 | TP53 | c.149T>A (p.Ile50Asn) c.-21-984T>A (n.-21-984T>A) c.96+162T>A (n.96+162T>A) n.405T>A c.32T>A (p.Ile11Asn) | ClinVar dbSNP |
| 17 | g.7676222_7676223del | CA645589407 | TP53 | c.148_149del (p.Ile50Ter) c.-21-985_-21-984del (n.-21-985_-21-984del) c.96+161_96+162del (n.96+161_96+162del) n.404_405del c.31_32del (p.Ile11Ter) | COSMIC |
| 17 | g.7676221T>A | CA397846591 | TP53 | c.148A>T (p.Ile50Phe) c.-21-985A>T (n.-21-985A>T) c.96+161A>T (n.96+161A>T) n.404A>T c.31A>T (p.Ile11Phe) | dbSNP |
| 17 | g.7676221T>C | CA397846598 | TP53 | c.148A>G (p.Ile50Val) c.-21-985A>G (n.-21-985A>G) c.96+161A>G (n.96+161A>G) n.404A>G c.31A>G (p.Ile11Val) | dbSNP |