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.117527502_117531824del | CA2580076333 | CFTR | c.274-3397_489+710del c.*171-3397_*386+710del c.*98-3397_*313+710del c.31-3397_246+710del c.364-3397_579+710del | ClinVar |
| 7 | g.117530896_117531112delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | CA1737359079 | CFTR | c.274-3_487delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*171-3_*384delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*98-3_*311delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.31-3_244delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.364-3_577delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | |
| 7 | g.117530900_117531115del | CA913189986 | CFTR | c.275_489+1del c.*172_*386+1del c.*99_*313+1del c.32_246+1del c.365_579+1del | ClinVar dbSNP |
| 7 | g.117530900_117534366del | CA913189987 | CFTR | c.275_579+1del c.*172_*476+1del c.*99_*403+1del c.32_336+1del c.275_490-882del c.365_669+1del | ClinVar |
| 7 | g.117530919_117530960del | CA2695208292 | CFTR | c.294_335del (p.Gln98_Asp112delinsHis) c.*191_*232del (n.*191_*232del) c.*118_*159del (n.*118_*159del) c.51_92del (p.Gln17_Asp31delinsHis) c.384_425del (p.Gln128_Asp142delinsHis) | |
| 7 | g.117530941_117530949delinsATAGCTTCC | CA1737359237 | CFTR | c.316_324delinsATAGCTTCC (p.Ile106=) c.*213_*221delinsATAGCTTCC (n.*213_*221delinsATAGCTTCC) c.*140_*148delinsATAGCTTCC (n.*140_*148delinsATAGCTTCC) c.73_81delinsATAGCTTCC (p.Ile25=) c.406_414delinsATAGCTTCC (p.Ile136=) | |
| 7 | g.117530944_117530951del | CA327090 | CFTR | c.319_326del (p.Ala107Ter) c.*216_*223del (n.*216_*223del) c.*143_*150del (n.*143_*150del) c.76_83del (p.Ala26Ter) c.409_416del (p.Ala137Ter) | ClinVar dbSNP |
| 7 | g.117530944G>A | CA368974364 | CFTR | c.319G>A (p.Ala107Thr) c.*216G>A (n.*216G>A) c.*143G>A (n.*143G>A) c.76G>A (p.Ala26Thr) c.409G>A (p.Ala137Thr) | |
| 7 | g.117530944G>C | CA368974367 | CFTR | c.319G>C (p.Ala107Pro) c.*216G>C (n.*216G>C) c.*143G>C (n.*143G>C) c.76G>C (p.Ala26Pro) c.409G>C (p.Ala137Pro) | ClinVar dbSNP |
| 7 | g.117530944G= | CA1737359243 | CFTR | c.319G= (p.Ala107=) c.*216G= (n.*216G=) c.*143G= (n.*143G=) c.76G= (p.Ala26=) c.409G= (p.Ala137=) | |
| 7 | g.117530944G>T | CA368974369 | CFTR | c.319G>T (p.Ala107Ser) c.*216G>T (n.*216G>T) c.*143G>T (n.*143G>T) c.76G>T (p.Ala26Ser) c.409G>T (p.Ala137Ser) | |
| 7 | g.117530945C>A | CA368974372 | CFTR | c.320C>A (p.Ala107Asp) c.*217C>A (n.*217C>A) c.*144C>A (n.*144C>A) c.77C>A (p.Ala26Asp) c.410C>A (p.Ala137Asp) | |
| 7 | g.117530945C>G | CA368974373 | CFTR | c.320C>G (p.Ala107Gly) c.*217C>G (n.*217C>G) c.*144C>G (n.*144C>G) c.77C>G (p.Ala26Gly) c.410C>G (p.Ala137Gly) | ClinVar |
| 7 | g.117530945C>T | CA368974374 | CFTR | c.320C>T (p.Ala107Val) c.*217C>T (n.*217C>T) c.*144C>T (n.*144C>T) c.77C>T (p.Ala26Val) c.410C>T (p.Ala137Val) | |
| 7 | g.117530946T>A | CA457448595 | CFTR | c.321T>A (p.Ala107=) c.*218T>A (n.*218T>A) c.*145T>A (n.*145T>A) c.78T>A (p.Ala26=) c.411T>A (p.Ala137=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530946T>C | CA457448596 | CFTR | c.321T>C (p.Ala107=) c.*218T>C (n.*218T>C) c.*145T>C (n.*145T>C) c.78T>C (p.Ala26=) c.411T>C (p.Ala137=) | |
| 7 | g.117530946T>G | CA4450705 | CFTR | c.321T>G (p.Ala107=) c.*218T>G (n.*218T>G) c.*145T>G (n.*145T>G) c.78T>G (p.Ala26=) c.411T>G (p.Ala137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530946T= | CA1737359248 | CFTR | c.321T= (p.Ala107=) c.*218T= (n.*218T=) c.*145T= (n.*145T=) c.78T= (p.Ala26=) c.411T= (p.Ala137=) | |
| 7 | g.117530947T>A | CA368974375 | CFTR | c.322T>A (p.Ser108Thr) c.*219T>A (n.*219T>A) c.*146T>A (n.*146T>A) c.79T>A (p.Ser27Thr) c.412T>A (p.Ser138Thr) | |
| 7 | g.117530947T>C | CA368974376 | CFTR | c.322T>C (p.Ser108Pro) c.*219T>C (n.*219T>C) c.*146T>C (n.*146T>C) c.79T>C (p.Ser27Pro) c.412T>C (p.Ser138Pro) | ClinVar |
| 7 | g.117530947T>G | CA368974377 | CFTR | c.322T>G (p.Ser108Ala) c.*219T>G (n.*219T>G) c.*146T>G (n.*146T>G) c.79T>G (p.Ser27Ala) c.412T>G (p.Ser138Ala) | |
| 7 | g.117530948C>A | CA368974378 | CFTR | c.323C>A (p.Ser108Tyr) c.*220C>A (n.*220C>A) c.*147C>A (n.*147C>A) c.80C>A (p.Ser27Tyr) c.413C>A (p.Ser138Tyr) | COSMIC |
| 7 | g.117530948C= | CA1737359256 | CFTR | c.323C= (p.Ser108=) c.*220C= (n.*220C=) c.*147C= (n.*147C=) c.80C= (p.Ser27=) c.413C= (p.Ser138=) | |
| 7 | g.117530948C>G | CA368974379 | CFTR | c.323C>G (p.Ser108Cys) c.*220C>G (n.*220C>G) c.*147C>G (n.*147C>G) c.80C>G (p.Ser27Cys) c.413C>G (p.Ser138Cys) | |
| 7 | g.117530948C>T | CA327108 | CFTR | c.323C>T (p.Ser108Phe) c.*220C>T (n.*220C>T) c.*147C>T (n.*147C>T) c.80C>T (p.Ser27Phe) c.413C>T (p.Ser138Phe) | ClinVar dbSNP |
| 7 | g.117530949C>A | CA457448598 | CFTR | c.324C>A (p.Ser108=) c.*221C>A (n.*221C>A) c.*148C>A (n.*148C>A) c.81C>A (p.Ser27=) c.414C>A (p.Ser138=) | |
| 7 | g.117530949C>G | CA457448600 | CFTR | c.324C>G (p.Ser108=) c.*221C>G (n.*221C>G) c.*148C>G (n.*148C>G) c.81C>G (p.Ser27=) c.414C>G (p.Ser138=) | |
| 7 | g.117530949C>T | CA457448599 | CFTR | c.324C>T (p.Ser108=) c.*221C>T (n.*221C>T) c.*148C>T (n.*148C>T) c.81C>T (p.Ser27=) c.414C>T (p.Ser138=) | gnomAD v4 |
| 7 | g.117530949_117530952delinsCTAT | CA1737359260 | CFTR | c.324_327delinsCTAT (p.Ser108=) c.*221_*224delinsCTAT (n.*221_*224delinsCTAT) c.*148_*151delinsCTAT (n.*148_*151delinsCTAT) c.81_84delinsCTAT (p.Ser27=) c.414_417delinsCTAT (p.Ser138=) | |
| 7 | g.117530950T>A | CA327114 | CFTR | c.325T>A (p.Tyr109Asn) c.*222T>A (n.*222T>A) c.*149T>A (n.*149T>A) c.82T>A (p.Tyr28Asn) c.415T>A (p.Tyr139Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530950T>C | CA368974380 | CFTR | c.325T>C (p.Tyr109His) c.*222T>C (n.*222T>C) c.*149T>C (n.*149T>C) c.82T>C (p.Tyr28His) c.415T>C (p.Tyr139His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530950T>G | CA368974381 | CFTR | c.325T>G (p.Tyr109Asp) c.*222T>G (n.*222T>G) c.*149T>G (n.*149T>G) c.82T>G (p.Tyr28Asp) c.415T>G (p.Tyr139Asp) | dbSNP |
| 7 | g.117530950T= | CA1737359270 | CFTR | c.325T= (p.Tyr109=) c.*222T= (n.*222T=) c.*149T= (n.*149T=) c.82T= (p.Tyr28=) c.415T= (p.Tyr139=) | |
| 7 | g.117530950_117530952delinsG | CA328112 | CFTR | c.325_327delinsG (p.Tyr109GlyfsTer4) c.*222_*224delinsG (n.*222_*224delinsG) c.*149_*151delinsG (n.*149_*151delinsG) c.82_84delinsG (p.Tyr28GlyfsTer4) c.415_417delinsG (p.Tyr139GlyfsTer4) | ClinVar dbSNP |
| 7 | g.117530951_117530952del | CA327120 | CFTR | c.326_327del (p.Tyr109Ter) c.*223_*224del (n.*223_*224del) c.*150_*151del (n.*150_*151del) c.83_84del (p.Tyr28Ter) c.416_417del (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530950_117530951insG | CA923726135 | CFTR | c.325_326insG (p.Tyr109Ter) c.*222_*223insG (n.*222_*223insG) c.*149_*150insG (n.*149_*150insG) c.82_83insG (p.Tyr28Ter) c.415_416insG (p.Tyr139Ter) | |
| 7 | g.117530951A= | CA1737359280 | CFTR | c.326A= (p.Tyr109=) c.*223A= (n.*223A=) c.*150A= (n.*150A=) c.83A= (p.Tyr28=) c.416A= (p.Tyr139=) | |
| 7 | g.117530951A>C | CA368974382 | CFTR | c.326A>C (p.Tyr109Ser) c.*223A>C (n.*223A>C) c.*150A>C (n.*150A>C) c.83A>C (p.Tyr28Ser) c.416A>C (p.Tyr139Ser) | |
| 7 | g.117530951A>G | CA325582 | CFTR | c.326A>G (p.Tyr109Cys) c.*223A>G (n.*223A>G) c.*150A>G (n.*150A>G) c.83A>G (p.Tyr28Cys) c.416A>G (p.Tyr139Cys) | ClinVar dbSNP COSMIC |
| 7 | g.117530951A>T | CA368974383 | CFTR | c.326A>T (p.Tyr109Phe) c.*223A>T (n.*223A>T) c.*150A>T (n.*150A>T) c.83A>T (p.Tyr28Phe) c.416A>T (p.Tyr139Phe) | |
| 7 | g.117530952T>A | CA327123 | CFTR | c.327T>A (p.Tyr109Ter) c.*224T>A (n.*224T>A) c.*151T>A (n.*151T>A) c.84T>A (p.Tyr28Ter) c.417T>A (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530952T>C | CA457448601 | CFTR | c.327T>C (p.Tyr109=) c.*224T>C (n.*224T>C) c.*151T>C (n.*151T>C) c.84T>C (p.Tyr28=) c.417T>C (p.Tyr139=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530952T>G | CA368974384 | CFTR | c.327T>G (p.Tyr109Ter) c.*224T>G (n.*224T>G) c.*151T>G (n.*151T>G) c.84T>G (p.Tyr28Ter) c.417T>G (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530952T= | CA1737359286 | CFTR | c.327T= (p.Tyr109=) c.*224T= (n.*224T=) c.*151T= (n.*151T=) c.84T= (p.Tyr28=) c.417T= (p.Tyr139=) | |
| 7 | g.117530952_117530953delinsTG | CA1737359289 | CFTR | c.327_328delinsTG (p.Tyr109=) c.*224_*225delinsTG (n.*224_*225delinsTG) c.*151_*152delinsTG (n.*151_*152delinsTG) c.84_85delinsTG (p.Tyr28=) c.417_418delinsTG (p.Tyr139=) | |
| 7 | g.117530953del | CA327129 | CFTR | c.328del (p.Asp110ThrfsTer14) c.*225del (n.*225del) c.*152del (n.*152del) c.85del (p.Asp29ThrfsTer14) c.85del (p.Asp29ThrfsTer?) c.418del (p.Asp140ThrfsTer14) | ClinVar dbSNP |
| 7 | g.117530953G>A | CA368974385 | CFTR | c.328G>A (p.Asp110Asn) c.*225G>A (n.*225G>A) c.*152G>A (n.*152G>A) c.85G>A (p.Asp29Asn) c.418G>A (p.Asp140Asn) | ClinVar dbSNP |
| 7 | g.117530953G>C | CA284835 | CFTR | c.328G>C (p.Asp110His) c.*225G>C (n.*225G>C) c.*152G>C (n.*152G>C) c.85G>C (p.Asp29His) c.418G>C (p.Asp140His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530953G= | CA1737359299 | CFTR | c.328G= (p.Asp110=) c.*225G= (n.*225G=) c.*152G= (n.*152G=) c.85G= (p.Asp29=) c.418G= (p.Asp140=) | |
| 7 | g.117530953G>T | CA327127 | CFTR | c.328G>T (p.Asp110Tyr) c.*225G>T (n.*225G>T) c.*152G>T (n.*152G>T) c.85G>T (p.Asp29Tyr) c.418G>T (p.Asp140Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |