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 |
|---|---|---|---|---|---|
| 7 | g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
| 7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
| 7 | g.117540298_117540317del | CA2695208311 | CFTR | c.1068_1087del (p.Trp356Ter) c.*965_*984del (n.*965_*984del) c.*892_*911del (n.*892_*911del) c.825_844del (p.Trp275Ter) c.978_997del (p.Trp326Ter) c.1158_1177del (p.Trp386Ter) | |
| 7 | g.117540313del | CA325600 | CFTR | c.1083del (p.Trp361CysfsTer8) c.*980del (n.*980del) c.*907del (n.*907del) c.840del (p.Trp280CysfsTer8) c.993del (p.Trp331CysfsTer8) c.1173del (p.Trp391CysfsTer8) | ClinVar dbSNP |
| 7 | g.117540313G>A | CA368979000 | CFTR | c.1083G>A (p.Trp361Ter) c.*980G>A (n.*980G>A) c.*907G>A (n.*907G>A) c.840G>A (p.Trp280Ter) c.993G>A (p.Trp331Ter) c.1173G>A (p.Trp391Ter) | gnomAD v4 |
| 7 | g.117540313G>C | CA368979001 | CFTR | c.1083G>C (p.Trp361Cys) c.*980G>C (n.*980G>C) c.*907G>C (n.*907G>C) c.840G>C (p.Trp280Cys) c.993G>C (p.Trp331Cys) c.1173G>C (p.Trp391Cys) | dbSNP |
| 7 | g.117540313G= | CA1737332631 | CFTR | c.1083G= (p.Trp361=) c.*980G= (n.*980G=) c.*907G= (n.*907G=) c.840G= (p.Trp280=) c.993G= (p.Trp331=) c.1173G= (p.Trp391=) | |
| 7 | g.117540313G>T | CA368979003 | CFTR | c.1083G>T (p.Trp361Cys) c.*980G>T (n.*980G>T) c.*907G>T (n.*907G>T) c.840G>T (p.Trp280Cys) c.993G>T (p.Trp331Cys) c.1173G>T (p.Trp391Cys) | |
| 7 | g.117540314T>A | CA368979012 | CFTR | c.1084T>A (p.Tyr362Asn) c.*981T>A (n.*981T>A) c.*908T>A (n.*908T>A) c.841T>A (p.Tyr281Asn) c.994T>A (p.Tyr332Asn) c.1174T>A (p.Tyr392Asn) | |
| 7 | g.117540314T>C | CA368979014 | CFTR | c.1084T>C (p.Tyr362His) c.*981T>C (n.*981T>C) c.*908T>C (n.*908T>C) c.841T>C (p.Tyr281His) c.994T>C (p.Tyr332His) c.1174T>C (p.Tyr392His) | ClinVar gnomAD v4 |
| 7 | g.117540314T>G | CA368979015 | CFTR | c.1084T>G (p.Tyr362Asp) c.*981T>G (n.*981T>G) c.*908T>G (n.*908T>G) c.841T>G (p.Tyr281Asp) c.994T>G (p.Tyr332Asp) c.1174T>G (p.Tyr392Asp) | ClinVar |
| 7 | g.117540314_117540318dup | CA913189993 | CFTR | c.1084_1088dup (p.Ser364MetfsTer7) c.*981_*985dup (n.*981_*985dup) c.*908_*912dup (n.*908_*912dup) c.841_845dup (p.Ser283MetfsTer7) c.994_998dup (p.Ser334MetfsTer7) c.1174_1178dup (p.Ser394MetfsTer7) | ClinVar dbSNP |
| 7 | g.117540315A>C | CA368979020 | CFTR | c.1085A>C (p.Tyr362Ser) c.*982A>C (n.*982A>C) c.*909A>C (n.*909A>C) c.842A>C (p.Tyr281Ser) c.995A>C (p.Tyr332Ser) c.1175A>C (p.Tyr392Ser) | COSMIC |
| 7 | g.117540315A>G | CA368979016 | CFTR | c.1085A>G (p.Tyr362Cys) c.*982A>G (n.*982A>G) c.*909A>G (n.*909A>G) c.842A>G (p.Tyr281Cys) c.995A>G (p.Tyr332Cys) c.1175A>G (p.Tyr392Cys) | ClinVar |
| 7 | g.117540315A>T | CA368979018 | CFTR | c.1085A>T (p.Tyr362Phe) c.*982A>T (n.*982A>T) c.*909A>T (n.*909A>T) c.842A>T (p.Tyr281Phe) c.995A>T (p.Tyr332Phe) c.1175A>T (p.Tyr392Phe) | gnomAD v4 |
| 7 | g.117540316T>A | CA326396 | CFTR | c.1086T>A (p.Tyr362Ter) c.*983T>A (n.*983T>A) c.*910T>A (n.*910T>A) c.843T>A (p.Tyr281Ter) c.996T>A (p.Tyr332Ter) c.1176T>A (p.Tyr392Ter) | ClinVar dbSNP |
| 7 | g.117540316T>C | CA4450887 | CFTR | c.1086T>C (p.Tyr362=) c.*983T>C (n.*983T>C) c.*910T>C (n.*910T>C) c.843T>C (p.Tyr281=) c.996T>C (p.Tyr332=) c.1176T>C (p.Tyr392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540316T>G | CA326398 | CFTR | c.1086T>G (p.Tyr362Ter) c.*983T>G (n.*983T>G) c.*910T>G (n.*910T>G) c.843T>G (p.Tyr281Ter) c.996T>G (p.Tyr332Ter) c.1176T>G (p.Tyr392Ter) | ClinVar dbSNP |
| 7 | g.117540316T= | CA1737332650 | CFTR | c.1086T= (p.Tyr362=) c.*983T= (n.*983T=) c.*910T= (n.*910T=) c.843T= (p.Tyr281=) c.996T= (p.Tyr332=) c.1176T= (p.Tyr392=) | |
| 7 | g.117540317G>A | CA368979024 | CFTR | c.1087G>A (p.Asp363Asn) c.*984G>A (n.*984G>A) c.*911G>A (n.*911G>A) c.844G>A (p.Asp282Asn) c.997G>A (p.Asp333Asn) c.1177G>A (p.Asp393Asn) | |
| 7 | g.117540317G>C | CA368979025 | CFTR | c.1087G>C (p.Asp363His) c.*984G>C (n.*984G>C) c.*911G>C (n.*911G>C) c.844G>C (p.Asp282His) c.997G>C (p.Asp333His) c.1177G>C (p.Asp393His) | |
| 7 | g.117540317G>T | CA368979027 | CFTR | c.1087G>T (p.Asp363Tyr) c.*984G>T (n.*984G>T) c.*911G>T (n.*911G>T) c.844G>T (p.Asp282Tyr) c.997G>T (p.Asp333Tyr) c.1177G>T (p.Asp393Tyr) | |
| 7 | g.117540318A>C | CA368979029 | CFTR | c.1088A>C (p.Asp363Ala) c.*985A>C (n.*985A>C) c.*912A>C (n.*912A>C) c.845A>C (p.Asp282Ala) c.998A>C (p.Asp333Ala) c.1178A>C (p.Asp393Ala) | |
| 7 | g.117540318A>G | CA368979032 | CFTR | c.1088A>G (p.Asp363Gly) c.*985A>G (n.*985A>G) c.*912A>G (n.*912A>G) c.845A>G (p.Asp282Gly) c.998A>G (p.Asp333Gly) c.1178A>G (p.Asp393Gly) | |
| 7 | g.117540318A>T | CA368979030 | CFTR | c.1088A>T (p.Asp363Val) c.*985A>T (n.*985A>T) c.*912A>T (n.*912A>T) c.845A>T (p.Asp282Val) c.998A>T (p.Asp333Val) c.1178A>T (p.Asp393Val) | |
| 7 | g.117540318_117540320delinsACT | CA1737332661 | CFTR | c.1088_1090delinsACT (p.Asp363=) c.*985_*987delinsACT (n.*985_*987delinsACT) c.*912_*914delinsACT (n.*912_*914delinsACT) c.845_847delinsACT (p.Asp282=) c.998_1000delinsACT (p.Asp333=) c.1178_1180delinsACT (p.Asp393=) | |
| 7 | g.117540319C>A | CA368979034 | CFTR | c.1089C>A (p.Asp363Glu) c.*986C>A (n.*986C>A) c.*913C>A (n.*913C>A) c.846C>A (p.Asp282Glu) c.999C>A (p.Asp333Glu) c.1179C>A (p.Asp393Glu) | gnomAD v4 |
| 7 | g.117540319C= | CA1737332673 | CFTR | c.1089C= (p.Asp363=) c.*986C= (n.*986C=) c.*913C= (n.*913C=) c.846C= (p.Asp282=) c.999C= (p.Asp333=) c.1179C= (p.Asp393=) | |
| 7 | g.117540319C>G | CA368979036 | CFTR | c.1089C>G (p.Asp363Glu) c.*986C>G (n.*986C>G) c.*913C>G (n.*913C>G) c.846C>G (p.Asp282Glu) c.999C>G (p.Asp333Glu) c.1179C>G (p.Asp393Glu) | |
| 7 | g.117540319C>T | CA4450888 | CFTR | c.1089C>T (p.Asp363=) c.*986C>T (n.*986C>T) c.*913C>T (n.*913C>T) c.846C>T (p.Asp282=) c.999C>T (p.Asp333=) c.1179C>T (p.Asp393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540323_117540324del | CA325550 | CFTR | c.1093_1094del (p.Leu365TrpfsTer16) c.*990_*991del (n.*990_*991del) c.*917_*918del (n.*917_*918del) c.850_851del (p.Leu284TrpfsTer16) c.1003_1004del (p.Leu335TrpfsTer16) c.1183_1184del (p.Leu395TrpfsTer16) | ClinVar dbSNP |
| 7 | g.117540320T>A | CA368979037 | CFTR | c.1090T>A (p.Ser364Thr) c.*987T>A (n.*987T>A) c.*914T>A (n.*914T>A) c.847T>A (p.Ser283Thr) c.1000T>A (p.Ser334Thr) c.1180T>A (p.Ser394Thr) | gnomAD v4 |
| 7 | g.117540320T>C | CA326399 | CFTR | c.1090T>C (p.Ser364Pro) c.*987T>C (n.*987T>C) c.*914T>C (n.*914T>C) c.847T>C (p.Ser283Pro) c.1000T>C (p.Ser334Pro) c.1180T>C (p.Ser394Pro) | ClinVar dbSNP |
| 7 | g.117540320T>G | CA368979039 | CFTR | c.1090T>G (p.Ser364Ala) c.*987T>G (n.*987T>G) c.*914T>G (n.*914T>G) c.847T>G (p.Ser283Ala) c.1000T>G (p.Ser334Ala) c.1180T>G (p.Ser394Ala) | |
| 7 | g.117540320T= | CA1737332676 | CFTR | c.1090T= (p.Ser364=) c.*987T= (n.*987T=) c.*914T= (n.*914T=) c.847T= (p.Ser283=) c.1000T= (p.Ser334=) c.1180T= (p.Ser394=) | |
| 7 | g.117540321C>A | CA368979041 | CFTR | c.1091C>A (p.Ser364Tyr) c.*988C>A (n.*988C>A) c.*915C>A (n.*915C>A) c.848C>A (p.Ser283Tyr) c.1001C>A (p.Ser334Tyr) c.1181C>A (p.Ser394Tyr) | |
| 7 | g.117540321C= | CA1737332681 | CFTR | c.1091C= (p.Ser364=) c.*988C= (n.*988C=) c.*915C= (n.*915C=) c.848C= (p.Ser283=) c.1001C= (p.Ser334=) c.1181C= (p.Ser394=) | |
| 7 | g.117540321C>G | CA368979043 | CFTR | c.1091C>G (p.Ser364Cys) c.*988C>G (n.*988C>G) c.*915C>G (n.*915C>G) c.848C>G (p.Ser283Cys) c.1001C>G (p.Ser334Cys) c.1181C>G (p.Ser394Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540321C>T | CA368979044 | CFTR | c.1091C>T (p.Ser364Phe) c.*988C>T (n.*988C>T) c.*915C>T (n.*915C>T) c.848C>T (p.Ser283Phe) c.1001C>T (p.Ser334Phe) c.1181C>T (p.Ser394Phe) | gnomAD v4 COSMIC |
| 7 | g.117540322T>A | CA457448792 | CFTR | c.1092T>A (p.Ser364=) c.*989T>A (n.*989T>A) c.*916T>A (n.*916T>A) c.849T>A (p.Ser283=) c.1002T>A (p.Ser334=) c.1182T>A (p.Ser394=) | ClinVar dbSNP |
| 7 | g.117540322T>C | CA457448793 | CFTR | c.1092T>C (p.Ser364=) c.*989T>C (n.*989T>C) c.*916T>C (n.*916T>C) c.849T>C (p.Ser283=) c.1002T>C (p.Ser334=) c.1182T>C (p.Ser394=) | |
| 7 | g.117540322T>G | CA457448794 | CFTR | c.1092T>G (p.Ser364=) c.*989T>G (n.*989T>G) c.*916T>G (n.*916T>G) c.849T>G (p.Ser283=) c.1002T>G (p.Ser334=) c.1182T>G (p.Ser394=) | |
| 7 | g.117540322T= | CA1737332688 | CFTR | c.1092T= (p.Ser364=) c.*989T= (n.*989T=) c.*916T= (n.*916T=) c.849T= (p.Ser283=) c.1002T= (p.Ser334=) c.1182T= (p.Ser394=) | |
| 7 | g.117540323C>A | CA368979046 | CFTR | c.1093C>A (p.Leu365Ile) c.*990C>A (n.*990C>A) c.*917C>A (n.*917C>A) c.850C>A (p.Leu284Ile) c.1003C>A (p.Leu335Ile) c.1183C>A (p.Leu395Ile) | |
| 7 | g.117540323C>G | CA368979048 | CFTR | c.1093C>G (p.Leu365Val) c.*990C>G (n.*990C>G) c.*917C>G (n.*917C>G) c.850C>G (p.Leu284Val) c.1003C>G (p.Leu335Val) c.1183C>G (p.Leu395Val) | |
| 7 | g.117540323C>T | CA368979049 | CFTR | c.1093C>T (p.Leu365Phe) c.*990C>T (n.*990C>T) c.*917C>T (n.*917C>T) c.850C>T (p.Leu284Phe) c.1003C>T (p.Leu335Phe) c.1183C>T (p.Leu395Phe) | |
| 7 | g.117540324T>A | CA368979053 | CFTR | c.1094T>A (p.Leu365His) c.*991T>A (n.*991T>A) c.*918T>A (n.*918T>A) c.851T>A (p.Leu284His) c.1004T>A (p.Leu335His) c.1184T>A (p.Leu395His) | |
| 7 | g.117540324T>C | CA326401 | CFTR | c.1094T>C (p.Leu365Pro) c.*991T>C (n.*991T>C) c.*918T>C (n.*918T>C) c.851T>C (p.Leu284Pro) c.1004T>C (p.Leu335Pro) c.1184T>C (p.Leu395Pro) | ClinVar dbSNP COSMIC |
| 7 | g.117540324T>G | CA368979051 | CFTR | c.1094T>G (p.Leu365Arg) c.*991T>G (n.*991T>G) c.*918T>G (n.*918T>G) c.851T>G (p.Leu284Arg) c.1004T>G (p.Leu335Arg) c.1184T>G (p.Leu395Arg) | |
| 7 | g.117540324T= | CA1737332699 | CFTR | c.1094T= (p.Leu365=) c.*991T= (n.*991T=) c.*918T= (n.*918T=) c.851T= (p.Leu284=) c.1004T= (p.Leu335=) c.1184T= (p.Leu395=) |