WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117530938del | CA327059 | CFTR | c.313del (p.Ile105SerfsTer2) c.*210del (n.*210del) c.*137del (n.*137del) c.70del (p.Ile24SerfsTer2) c.403del (p.Ile135SerfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530938A= | CA1737359230 | CFTR | c.313A= (p.Ile105=) c.*210A= (n.*210A=) c.*137A= (n.*137A=) c.70A= (p.Ile24=) c.403A= (p.Ile135=) | |
| 7 | g.117530938A>C | CA368974329 | CFTR | c.313A>C (p.Ile105Leu) c.*210A>C (n.*210A>C) c.*137A>C (n.*137A>C) c.70A>C (p.Ile24Leu) c.403A>C (p.Ile135Leu) | ClinVar dbSNP |
| 7 | g.117530938A>G | CA4450704 | CFTR | c.313A>G (p.Ile105Val) c.*210A>G (n.*210A>G) c.*137A>G (n.*137A>G) c.70A>G (p.Ile24Val) c.403A>G (p.Ile135Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530938A>T | CA368974332 | CFTR | c.313A>T (p.Ile105Phe) c.*210A>T (n.*210A>T) c.*137A>T (n.*137A>T) c.70A>T (p.Ile24Phe) c.403A>T (p.Ile135Phe) | |
| 7 | g.117530939T>A | CA327065 | CFTR | c.314T>A (p.Ile105Asn) c.*211T>A (n.*211T>A) c.*138T>A (n.*138T>A) c.71T>A (p.Ile24Asn) c.404T>A (p.Ile135Asn) | ClinVar dbSNP |
| 7 | g.117530939T>C | CA368974338 | CFTR | c.314T>C (p.Ile105Thr) c.*211T>C (n.*211T>C) c.*138T>C (n.*138T>C) c.71T>C (p.Ile24Thr) c.404T>C (p.Ile135Thr) | |
| 7 | g.117530939T>G | CA368974336 | CFTR | c.314T>G (p.Ile105Ser) c.*211T>G (n.*211T>G) c.*138T>G (n.*138T>G) c.71T>G (p.Ile24Ser) c.404T>G (p.Ile135Ser) | gnomAD v4 |
| 7 | g.117530939T= | CA1737359233 | CFTR | c.314T= (p.Ile105=) c.*211T= (n.*211T=) c.*138T= (n.*138T=) c.71T= (p.Ile24=) c.404T= (p.Ile135=) | |
| 7 | g.117530940C>A | CA457448586 | CFTR | c.315C>A (p.Ile105=) c.*212C>A (n.*212C>A) c.*139C>A (n.*139C>A) c.72C>A (p.Ile24=) c.405C>A (p.Ile135=) | |
| 7 | g.117530940C>G | CA368974340 | CFTR | c.315C>G (p.Ile105Met) c.*212C>G (n.*212C>G) c.*139C>G (n.*139C>G) c.72C>G (p.Ile24Met) c.405C>G (p.Ile135Met) | gnomAD v4 |
| 7 | g.117530940C>T | CA457448587 | CFTR | c.315C>T (p.Ile105=) c.*212C>T (n.*212C>T) c.*139C>T (n.*139C>T) c.72C>T (p.Ile24=) c.405C>T (p.Ile135=) | gnomAD v4 |
| 7 | g.117530941A= | CA1737359238 | CFTR | c.316A= (p.Ile106=) c.*213A= (n.*213A=) c.*140A= (n.*140A=) c.73A= (p.Ile25=) c.406A= (p.Ile136=) | |
| 7 | g.117530941A>C | CA368974342 | CFTR | c.316A>C (p.Ile106Leu) c.*213A>C (n.*213A>C) c.*140A>C (n.*140A>C) c.73A>C (p.Ile25Leu) c.406A>C (p.Ile136Leu) | |
| 7 | g.117530941A>G | CA164943625 | CFTR | c.316A>G (p.Ile106Val) c.*213A>G (n.*213A>G) c.*140A>G (n.*140A>G) c.73A>G (p.Ile25Val) c.406A>G (p.Ile136Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530941A>T | CA368974345 | CFTR | c.316A>T (p.Ile106Leu) c.*213A>T (n.*213A>T) c.*140A>T (n.*140A>T) c.73A>T (p.Ile25Leu) c.406A>T (p.Ile136Leu) | |
| 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.117530942T>A | CA368974348 | CFTR | c.317T>A (p.Ile106Lys) c.*214T>A (n.*214T>A) c.*141T>A (n.*141T>A) c.74T>A (p.Ile25Lys) c.407T>A (p.Ile136Lys) | |
| 7 | g.117530942T>C | CA368974353 | CFTR | c.317T>C (p.Ile106Thr) c.*214T>C (n.*214T>C) c.*141T>C (n.*141T>C) c.74T>C (p.Ile25Thr) c.407T>C (p.Ile136Thr) | ClinVar gnomAD v4 |
| 7 | g.117530942T>G | CA368974351 | CFTR | c.317T>G (p.Ile106Arg) c.*214T>G (n.*214T>G) c.*141T>G (n.*141T>G) c.74T>G (p.Ile25Arg) c.407T>G (p.Ile136Arg) | |
| 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.117530943A>C | CA457448590 | CFTR | c.318A>C (p.Ile106=) c.*215A>C (n.*215A>C) c.*142A>C (n.*142A>C) c.75A>C (p.Ile25=) c.408A>C (p.Ile136=) | |
| 7 | g.117530943A>G | CA368974362 | CFTR | c.318A>G (p.Ile106Met) c.*215A>G (n.*215A>G) c.*142A>G (n.*142A>G) c.75A>G (p.Ile25Met) c.408A>G (p.Ile136Met) | gnomAD v4 |
| 7 | g.117530943A>T | CA457448589 | CFTR | c.318A>T (p.Ile106=) c.*215A>T (n.*215A>T) c.*142A>T (n.*142A>T) c.75A>T (p.Ile25=) c.408A>T (p.Ile136=) | |
| 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 |