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 |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116835946C>A | CA382714596 | APOA1 | c.666G>T (p.Glu222Asp) c.600G>T (p.Glu200Asp) c.339G>T (p.Glu113Asp) | |
| 11 | g.116835946C= | CA2002761803 | APOA1 | c.666G= (p.Glu222=) c.600G= (p.Glu200=) c.339G= (p.Glu113=) | |
| 11 | g.116835946C>G | CA382714599 | APOA1 | c.666G>C (p.Glu222Asp) c.600G>C (p.Glu200Asp) c.339G>C (p.Glu113Asp) | |
| 11 | g.116835946C>T | CA6289761 | APOA1 | c.666G>A (p.Glu222=) c.600G>A (p.Glu200=) c.339G>A (p.Glu113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835947T>A | CA382714606 | APOA1 | c.665A>T (p.Glu222Val) c.599A>T (p.Glu200Val) c.338A>T (p.Glu113Val) | |
| 11 | g.116835947T>C | CA382714608 | APOA1 | c.665A>G (p.Glu222Gly) c.599A>G (p.Glu200Gly) c.338A>G (p.Glu113Gly) | gnomAD v4 |
| 11 | g.116835947T>G | CA382714610 | APOA1 | c.665A>C (p.Glu222Ala) c.599A>C (p.Glu200Ala) c.338A>C (p.Glu113Ala) | |
| 11 | g.116835948C>A | CA382714613 | APOA1 | c.664G>T (p.Glu222Ter) c.598G>T (p.Glu200Ter) c.337G>T (p.Glu113Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835948C= | CA2002761804 | APOA1 | c.664G= (p.Glu222=) c.598G= (p.Glu200=) c.337G= (p.Glu113=) | |
| 11 | g.116835948C>G | CA382714615 | APOA1 | c.664G>C (p.Glu222Gln) c.598G>C (p.Glu200Gln) c.337G>C (p.Glu113Gln) | |
| 11 | g.116835948C>T | CA127546 | APOA1 | c.664G>A (p.Glu222Lys) c.598G>A (p.Glu200Lys) c.337G>A (p.Glu113Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835949G>A | CA477048598 | APOA1 | c.663C>T (p.Thr221=) c.597C>T (p.Thr199=) c.336C>T (p.Thr112=) | |
| 11 | g.116835949G>C | CA477048599 | APOA1 | c.663C>G (p.Thr221=) c.597C>G (p.Thr199=) c.336C>G (p.Thr112=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835949G= | CA2002761805 | APOA1 | c.663C= (p.Thr221=) c.597C= (p.Thr199=) c.336C= (p.Thr112=) | |
| 11 | g.116835949G>T | CA229324001 | APOA1 | c.663C>A (p.Thr221=) c.597C>A (p.Thr199=) c.336C>A (p.Thr112=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116835950G>A | CA382714620 | APOA1 | c.662C>T (p.Thr221Ile) c.596C>T (p.Thr199Ile) c.335C>T (p.Thr112Ile) | |
| 11 | g.116835950G>C | CA6289762 | APOA1 | c.662C>G (p.Thr221Ser) c.596C>G (p.Thr199Ser) c.335C>G (p.Thr112Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835950G= | CA2002761806 | APOA1 | c.662C= (p.Thr221=) c.596C= (p.Thr199=) c.335C= (p.Thr112=) | |
| 11 | g.116835950G>T | CA382714623 | APOA1 | c.662C>A (p.Thr221Asn) c.596C>A (p.Thr199Asn) c.335C>A (p.Thr112Asn) | |
| 11 | g.116835951T>A | CA382714625 | APOA1 | c.661A>T (p.Thr221Ser) c.595A>T (p.Thr199Ser) c.334A>T (p.Thr112Ser) | |
| 11 | g.116835951T>C | CA382714627 | APOA1 | c.661A>G (p.Thr221Ala) c.595A>G (p.Thr199Ala) c.334A>G (p.Thr112Ala) | |
| 11 | g.116835951T>G | CA382714638 | APOA1 | c.661A>C (p.Thr221Pro) c.595A>C (p.Thr199Pro) c.334A>C (p.Thr112Pro) | |
| 11 | g.116835952G>A | CA477048600 | APOA1 | c.660C>T (p.Ala220=) c.594C>T (p.Ala198=) c.333C>T (p.Ala111=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835952G>C | CA477048602 | APOA1 | c.660C>G (p.Ala220=) c.594C>G (p.Ala198=) c.333C>G (p.Ala111=) | gnomAD v4 |
| 11 | g.116835952G= | CA2002761807 | APOA1 | c.660C= (p.Ala220=) c.594C= (p.Ala198=) c.333C= (p.Ala111=) | |
| 11 | g.116835952G>T | CA477048603 | APOA1 | c.660C>A (p.Ala220=) c.594C>A (p.Ala198=) c.333C>A (p.Ala111=) | |
| 11 | g.116835953G>A | CA382714641 | APOA1 | c.659C>T (p.Ala220Val) c.593C>T (p.Ala198Val) c.332C>T (p.Ala111Val) | gnomAD v4 |
| 11 | g.116835953G>C | CA382714643 | APOA1 | c.659C>G (p.Ala220Gly) c.593C>G (p.Ala198Gly) c.332C>G (p.Ala111Gly) | |
| 11 | g.116835953G>T | CA382714645 | APOA1 | c.659C>A (p.Ala220Asp) c.593C>A (p.Ala198Asp) c.332C>A (p.Ala111Asp) | |
| 11 | g.116835954C>A | CA382714648 | APOA1 | c.658G>T (p.Ala220Ser) c.592G>T (p.Ala198Ser) c.331G>T (p.Ala111Ser) | |
| 11 | g.116835954C= | CA2002761808 | APOA1 | c.658G= (p.Ala220=) c.592G= (p.Ala198=) c.331G= (p.Ala111=) | |
| 11 | g.116835954C>G | CA6289763 | APOA1 | c.658G>C (p.Ala220Pro) c.592G>C (p.Ala198Pro) c.331G>C (p.Ala111Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835954C>T | CA382714653 | APOA1 | c.658G>A (p.Ala220Thr) c.592G>A (p.Ala198Thr) c.331G>A (p.Ala111Thr) | |
| 11 | g.116835955C>A | CA382714659 | APOA1 | c.657G>T (p.Lys219Asn) c.591G>T (p.Lys197Asn) c.330G>T (p.Lys110Asn) | |
| 11 | g.116835955C>G | CA382714657 | APOA1 | c.657G>C (p.Lys219Asn) c.591G>C (p.Lys197Asn) c.330G>C (p.Lys110Asn) | |
| 11 | g.116835955C>T | CA477048604 | APOA1 | c.657G>A (p.Lys219=) c.591G>A (p.Lys197=) c.330G>A (p.Lys110=) | |
| 11 | g.116835956T>A | CA382714660 | APOA1 | c.656A>T (p.Lys219Met) c.590A>T (p.Lys197Met) c.329A>T (p.Lys110Met) | |
| 11 | g.116835956T>C | CA382714663 | APOA1 | c.656A>G (p.Lys219Arg) c.590A>G (p.Lys197Arg) c.329A>G (p.Lys110Arg) | |
| 11 | g.116835956T>G | CA382714661 | APOA1 | c.656A>C (p.Lys219Thr) c.590A>C (p.Lys197Thr) c.329A>C (p.Lys110Thr) | |
| 11 | g.116835957T>A | CA382714666 | APOA1 | c.655A>T (p.Lys219Ter) c.589A>T (p.Lys197Ter) c.328A>T (p.Lys110Ter) | |
| 11 | g.116835957T>C | CA382714669 | APOA1 | c.655A>G (p.Lys219Glu) c.589A>G (p.Lys197Glu) c.328A>G (p.Lys110Glu) | |
| 11 | g.116835957T>G | CA382714672 | APOA1 | c.655A>C (p.Lys219Gln) c.589A>C (p.Lys197Gln) c.328A>C (p.Lys110Gln) | |
| 11 | g.116835958G>A | CA477048606 | APOA1 | c.654C>T (p.Ala218=) c.588C>T (p.Ala196=) c.327C>T (p.Ala109=) | |
| 11 | g.116835958G>C | CA477048607 | APOA1 | c.654C>G (p.Ala218=) c.588C>G (p.Ala196=) c.327C>G (p.Ala109=) | |
| 11 | g.116835958G>T | CA477048608 | APOA1 | c.654C>A (p.Ala218=) c.588C>A (p.Ala196=) c.327C>A (p.Ala109=) | |
| 11 | g.116835959G>A | CA382714675 | APOA1 | c.653C>T (p.Ala218Val) c.587C>T (p.Ala196Val) c.326C>T (p.Ala109Val) | |
| 11 | g.116835959G>C | CA382714682 | APOA1 | c.653C>G (p.Ala218Gly) c.587C>G (p.Ala196Gly) c.326C>G (p.Ala109Gly) | dbSNP gnomAD v2 |
| 11 | g.116835959G= | CA2002761809 | APOA1 | c.653C= (p.Ala218=) c.587C= (p.Ala196=) c.326C= (p.Ala109=) | |
| 11 | g.116835959G>T | CA382714688 | APOA1 | c.653C>A (p.Ala218Asp) c.587C>A (p.Ala196Asp) c.326C>A (p.Ala109Asp) |