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.117531043C>A | CA368974750 | CFTR | c.418C>A (p.Pro140Thr) c.*315C>A (n.*315C>A) c.*242C>A (n.*242C>A) c.175C>A (p.Pro59Thr) c.508C>A (p.Pro170Thr) | |
| 7 | g.117531043C= | CA1737359568 | CFTR | c.418C= (p.Pro140=) c.*315C= (n.*315C=) c.*242C= (n.*242C=) c.175C= (p.Pro59=) c.508C= (p.Pro170=) | |
| 7 | g.117531043C>G | CA368974752 | CFTR | c.418C>G (p.Pro140Ala) c.*315C>G (n.*315C>G) c.*242C>G (n.*242C>G) c.175C>G (p.Pro59Ala) c.508C>G (p.Pro170Ala) | ClinVar |
| 7 | g.117531043C>T | CA327438 | CFTR | c.418C>T (p.Pro140Ser) c.*315C>T (n.*315C>T) c.*242C>T (n.*242C>T) c.175C>T (p.Pro59Ser) c.508C>T (p.Pro170Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117531044C>A | CA368974753 | CFTR | c.419C>A (p.Pro140Gln) c.*316C>A (n.*316C>A) c.*243C>A (n.*243C>A) c.176C>A (p.Pro59Gln) c.509C>A (p.Pro170Gln) | dbSNP |
| 7 | g.117531044C= | CA1737359574 | CFTR | c.419C= (p.Pro140=) c.*316C= (n.*316C=) c.*243C= (n.*243C=) c.176C= (p.Pro59=) c.509C= (p.Pro170=) | |
| 7 | g.117531044C>G | CA4450720 | CFTR | c.419C>G (p.Pro140Arg) c.*316C>G (n.*316C>G) c.*243C>G (n.*243C>G) c.176C>G (p.Pro59Arg) c.509C>G (p.Pro170Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117531044C>T | CA327444 | CFTR | c.419C>T (p.Pro140Leu) c.*316C>T (n.*316C>T) c.*243C>T (n.*243C>T) c.176C>T (p.Pro59Leu) c.509C>T (p.Pro170Leu) | ClinVar dbSNP COSMIC |
| 7 | g.117531045A>C | CA457448694 | CFTR | c.420A>C (p.Pro140=) c.*317A>C (n.*317A>C) c.*244A>C (n.*244A>C) c.177A>C (p.Pro59=) c.510A>C (p.Pro170=) | |
| 7 | g.117531045A>G | CA457448695 | CFTR | c.420A>G (p.Pro140=) c.*317A>G (n.*317A>G) c.*244A>G (n.*244A>G) c.177A>G (p.Pro59=) c.510A>G (p.Pro170=) | |
| 7 | g.117531045A>T | CA457448696 | CFTR | c.420A>T (p.Pro140=) c.*317A>T (n.*317A>T) c.*244A>T (n.*244A>T) c.177A>T (p.Pro59=) c.510A>T (p.Pro170=) | |
| 7 | g.117531045dup | CA327455 | CFTR | c.420dup (p.Ala141SerfsTer18) c.*317dup (n.*317dup) c.*244dup (n.*244dup) c.177dup (p.Ala60SerfsTer18) c.510dup (p.Ala171SerfsTer18) | dbSNP |
| 7 | g.117531046G>A | CA368974754 | CFTR | c.421G>A (p.Ala141Thr) c.*318G>A (n.*318G>A) c.*245G>A (n.*245G>A) c.178G>A (p.Ala60Thr) c.511G>A (p.Ala171Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117531046G>C | CA368974755 | CFTR | c.421G>C (p.Ala141Pro) c.*318G>C (n.*318G>C) c.*245G>C (n.*245G>C) c.178G>C (p.Ala60Pro) c.511G>C (p.Ala171Pro) | |
| 7 | g.117531046G= | CA1737359580 | CFTR | c.421G= (p.Ala141=) c.*318G= (n.*318G=) c.*245G= (n.*245G=) c.178G= (p.Ala60=) c.511G= (p.Ala171=) | |
| 7 | g.117531046G>T | CA368974756 | CFTR | c.421G>T (p.Ala141Ser) c.*318G>T (n.*318G>T) c.*245G>T (n.*245G>T) c.178G>T (p.Ala60Ser) c.511G>T (p.Ala171Ser) | |
| 7 | g.117531047C>A | CA327458 | CFTR | c.422C>A (p.Ala141Asp) c.*319C>A (n.*319C>A) c.*246C>A (n.*246C>A) c.179C>A (p.Ala60Asp) c.512C>A (p.Ala171Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117531047C= | CA1737359584 | CFTR | c.422C= (p.Ala141=) c.*319C= (n.*319C=) c.*246C= (n.*246C=) c.179C= (p.Ala60=) c.512C= (p.Ala171=) | |
| 7 | g.117531047C>G | CA368974757 | CFTR | c.422C>G (p.Ala141Gly) c.*319C>G (n.*319C>G) c.*246C>G (n.*246C>G) c.179C>G (p.Ala60Gly) c.512C>G (p.Ala171Gly) | gnomAD v4 |
| 7 | g.117531047C>T | CA368974758 | CFTR | c.422C>T (p.Ala141Val) c.*319C>T (n.*319C>T) c.*246C>T (n.*246C>T) c.179C>T (p.Ala60Val) c.512C>T (p.Ala171Val) | |
| 7 | g.117531048C>A | CA457448697 | CFTR | c.423C>A (p.Ala141=) c.*320C>A (n.*320C>A) c.*247C>A (n.*247C>A) c.180C>A (p.Ala60=) c.513C>A (p.Ala171=) | |
| 7 | g.117531048C= | CA1737359589 | CFTR | c.423C= (p.Ala141=) c.*320C= (n.*320C=) c.*247C= (n.*247C=) c.180C= (p.Ala60=) c.513C= (p.Ala171=) | |
| 7 | g.117531048C>G | CA457448698 | CFTR | c.423C>G (p.Ala141=) c.*320C>G (n.*320C>G) c.*247C>G (n.*247C>G) c.180C>G (p.Ala60=) c.513C>G (p.Ala171=) | |
| 7 | g.117531048C>T | CA457448699 | CFTR | c.423C>T (p.Ala141=) c.*320C>T (n.*320C>T) c.*247C>T (n.*247C>T) c.180C>T (p.Ala60=) c.513C>T (p.Ala171=) | ClinVar dbSNP COSMIC |
| 7 | g.117531048_117531049delinsCA | CA1737359591 | CFTR | c.423_424delinsCA (p.Ala141=) c.*320_*321delinsCA (n.*320_*321delinsCA) c.*247_*248delinsCA (n.*247_*248delinsCA) c.180_181delinsCA (p.Ala60=) c.513_514delinsCA (p.Ala171=) | |
| 7 | g.117531049del | CA325540 | CFTR | c.424del (p.Ile142PhefsTer11) c.*321del (n.*321del) c.*248del (n.*248del) c.181del (p.Ile61PhefsTer11) c.514del (p.Ile172PhefsTer11) | ClinVar dbSNP |
| 7 | g.117531049A= | CA1737359597 | CFTR | c.424A= (p.Ile142=) c.*321A= (n.*321A=) c.*248A= (n.*248A=) c.181A= (p.Ile61=) c.514A= (p.Ile172=) | |
| 7 | g.117531049A>C | CA368974759 | CFTR | c.424A>C (p.Ile142Leu) c.*321A>C (n.*321A>C) c.*248A>C (n.*248A>C) c.181A>C (p.Ile61Leu) c.514A>C (p.Ile172Leu) | |
| 7 | g.117531049A>G | CA368974760 | CFTR | c.424A>G (p.Ile142Val) c.*321A>G (n.*321A>G) c.*248A>G (n.*248A>G) c.181A>G (p.Ile61Val) c.514A>G (p.Ile172Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531049A>T | CA368974761 | CFTR | c.424A>T (p.Ile142Phe) c.*321A>T (n.*321A>T) c.*248A>T (n.*248A>T) c.181A>T (p.Ile61Phe) c.514A>T (p.Ile172Phe) | |
| 7 | g.117531049_117531050delinsAT | CA1737359595 | CFTR | c.424_425delinsAT (p.Ile142=) c.*321_*322delinsAT (n.*321_*322delinsAT) c.*248_*249delinsAT (n.*248_*249delinsAT) c.181_182delinsAT (p.Ile61=) c.514_515delinsAT (p.Ile172=) | |
| 7 | g.117531050T>A | CA368974765 | CFTR | c.425T>A (p.Ile142Asn) c.*322T>A (n.*322T>A) c.*249T>A (n.*249T>A) c.182T>A (p.Ile61Asn) c.515T>A (p.Ile172Asn) | |
| 7 | g.117531050T>C | CA368974768 | CFTR | c.425T>C (p.Ile142Thr) c.*322T>C (n.*322T>C) c.*249T>C (n.*249T>C) c.182T>C (p.Ile61Thr) c.515T>C (p.Ile172Thr) | |
| 7 | g.117531050T>G | CA368974770 | CFTR | c.425T>G (p.Ile142Ser) c.*322T>G (n.*322T>G) c.*249T>G (n.*249T>G) c.182T>G (p.Ile61Ser) c.515T>G (p.Ile172Ser) | ClinVar |
| 7 | g.117531054del | CA325541 | CFTR | c.429del (p.Phe143LeufsTer10) c.*326del (n.*326del) c.*253del (n.*253del) c.186del (p.Phe62LeufsTer10) c.519del (p.Phe173LeufsTer10) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117531051T>A | CA457448700 | CFTR | c.426T>A (p.Ile142=) c.*323T>A (n.*323T>A) c.*250T>A (n.*250T>A) c.183T>A (p.Ile61=) c.516T>A (p.Ile172=) | |
| 7 | g.117531051T>C | CA457448701 | CFTR | c.426T>C (p.Ile142=) c.*323T>C (n.*323T>C) c.*250T>C (n.*250T>C) c.183T>C (p.Ile61=) c.516T>C (p.Ile172=) | ClinVar dbSNP |
| 7 | g.117531051T>G | CA368974778 | CFTR | c.426T>G (p.Ile142Met) c.*323T>G (n.*323T>G) c.*250T>G (n.*250T>G) c.183T>G (p.Ile61Met) c.516T>G (p.Ile172Met) | |
| 7 | g.117531051T= | CA1737359604 | CFTR | c.426T= (p.Ile142=) c.*323T= (n.*323T=) c.*250T= (n.*250T=) c.183T= (p.Ile61=) c.516T= (p.Ile172=) | |
| 7 | g.117531052T>A | CA368974780 | CFTR | c.427T>A (p.Phe143Ile) c.*324T>A (n.*324T>A) c.*251T>A (n.*251T>A) c.184T>A (p.Phe62Ile) c.517T>A (p.Phe173Ile) | |
| 7 | g.117531052T>C | CA368974783 | CFTR | c.427T>C (p.Phe143Leu) c.*324T>C (n.*324T>C) c.*251T>C (n.*251T>C) c.184T>C (p.Phe62Leu) c.517T>C (p.Phe173Leu) | |
| 7 | g.117531052T>G | CA368974785 | CFTR | c.427T>G (p.Phe143Val) c.*324T>G (n.*324T>G) c.*251T>G (n.*251T>G) c.184T>G (p.Phe62Val) c.517T>G (p.Phe173Val) | ClinVar |
| 7 | g.117531053T>A | CA368974792 | CFTR | c.428T>A (p.Phe143Tyr) c.*325T>A (n.*325T>A) c.*252T>A (n.*252T>A) c.185T>A (p.Phe62Tyr) c.518T>A (p.Phe173Tyr) | |
| 7 | g.117531053T>C | CA368974791 | CFTR | c.428T>C (p.Phe143Ser) c.*325T>C (n.*325T>C) c.*252T>C (n.*252T>C) c.185T>C (p.Phe62Ser) c.518T>C (p.Phe173Ser) | |
| 7 | g.117531053T>G | CA368974790 | CFTR | c.428T>G (p.Phe143Cys) c.*325T>G (n.*325T>G) c.*252T>G (n.*252T>G) c.185T>G (p.Phe62Cys) c.518T>G (p.Phe173Cys) | |
| 7 | g.117531054T>A | CA368974794 | CFTR | c.429T>A (p.Phe143Leu) c.*326T>A (n.*326T>A) c.*253T>A (n.*253T>A) c.186T>A (p.Phe62Leu) c.519T>A (p.Phe173Leu) |