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 |
|---|---|---|---|---|---|
| X | g.85893511_85894233delinsCTTCAACGATGACATGCATGAAAGGCACCTGTAAGCATAGTAGAGTGGTTATTTGTATTTTGTGTTTGTTTAGGGGGTAAAGGGGGCAGTTATTACAGTTGTGAAGGTTGTATTTGTAGAGATTTTCTTACTTTTTTATTATTCACAGTTTTTGTTTATATAAAAGATGGTTATAGAGTAAGTCATTTCACACCATCCCCTTACCTATAAACATTTCAGTGGCTAAATCTTCACAAGCATGATGTTTTAGTTCTCCAGTTAAGGAATTTTATGACTTTCAATTCTAATTTTTATTTAGCTTATTGAAAACCTGGTTGCATAACATTTTTTTTATTGTTAATTTTTTTTCTTTACTTTCTTAGTCCATTTGGGCTGCTATGAAAAAATACCTTAGACTGGGTAACTTATAATAAACAATAGAAATTTATTGCTCACAATTCTAGAGGCTGGAAAGTCCAAAATCAAGGTGCCAGCAGATTCAGTGTCTGATGAGGACCCTTTCCTCATAAGTGGCACCTTCTGTGTGTCCTCATACAGGCAAGGGGATAAAAAAGCTTCCTTGAACCCTTTTTTAAGAGCACTAATCCCATTTATGAGGGCAGAGCTCTTGTTATCTAACCATCTTCCAAAGCCCCTACCTCTTAATAACTTTTGCATTGTGGGTCTACTTGAGGTATTAAGAGGTAATACTTTTGTA | CA2573159637 | CHM | c.1465_1510+677delinsTACAAAAGTATTACCTCTTAATACCTCAAGTAGACCCACAATGCAAAAGTTATTAAGAGGTAGGGGCTTTGGAAGATGGTTAGATAACAAGAGCTCTGCCCTCATAAATGGGATTAGTGCTCTTAAAAAAGGGTTCAAGGAAGCTTTTTTATCCCCTTGCCTGTATGAGGACACACAGAAGGTGCCACTTATGAGGAAAGGGTCCTCATCAGACACTGAATCTGCTGGCACCTTGATTTTGGACTTTCCAGCCTCTAGAATTGTGAGCAATAAATTTCTATTGTTTATTATAAGTTACCCAGTCTAAGGTATTTTTTCATAGCAGCCCAAATGGACTAAGAAAGTAAAGAAAAAAAATTAACAATAAAAAAAATGTTATGCAACCAGGTTTTCAATAAGCTAAATAAAAATTAGAATTGAAAGTCATAAAATTCCTTAACTGGAGAACTAAAACATCATGCTTGTGAAGATTTAGCCACTGAAATGTTTATAGGTAAGGGGATGGTGTGAAATGACTTACTCTATAACCATCTTTTATATAAACAAAAACTGTGAATAATAAAAAAGTAAGAAAATCTCTACAAATACAACCTTCACAACTGTAATAACTGCCCCCTTTACCCCCTAAACAAACACAAAATACAAATAACCACTCTACTATGCTTACAGGTGCCTTTCATGCATGTCATCGTTGAAG n.127-31139_127-30417delinsTACAAAAGTATTACCTCTTAATACCTCAAGTAGACCCACAATGCAAAAGTTATTAAGAGGTAGGGGCTTTGGAAGATGGTTAGATAACAAGAGCTCTGCCCTCATAAATGGGATTAGTGCTCTTAAAAAAGGGTTCAAGGAAGCTTTTTTATCCCCTTGCCTGTATGAGGACACACAGAAGGTGCCACTTATGAGGAAAGGGTCCTCATCAGACACTGAATCTGCTGGCACCTTGATTTTGGACTTTCCAGCCTCTAGAATTGTGAGCAATAAATTTCTATTGTTTATTATAAGTTACCCAGTCTAAGGTATTTTTTCATAGCAGCCCAAATGGACTAAGAAAGTAAAGAAAAAAAATTAACAATAAAAAAAATGTTATGCAACCAGGTTTTCAATAAGCTAAATAAAAATTAGAATTGAAAGTCATAAAATTCCTTAACTGGAGAACTAAAACATCATGCTTGTGAAGATTTAGCCACTGAAATGTTTATAGGTAAGGGGATGGTGTGAAATGACTTACTCTATAACCATCTTTTATATAAACAAAAACTGTGAATAATAAAAAAGTAAGAAAATCTCTACAAATACAACCTTCACAACTGTAATAACTGCCCCCTTTACCCCCTAAACAAACACAAAATACAAATAACCACTCTACTATGCTTACAGGTGCCTTTCATGCATGTCATCGTTGAAG c.1402_1447+677delinsTACAAAAGTATTACCTCTTAATACCTCAAGTAGACCCACAATGCAAAAGTTATTAAGAGGTAGGGGCTTTGGAAGATGGTTAGATAACAAGAGCTCTGCCCTCATAAATGGGATTAGTGCTCTTAAAAAAGGGTTCAAGGAAGCTTTTTTATCCCCTTGCCTGTATGAGGACACACAGAAGGTGCCACTTATGAGGAAAGGGTCCTCATCAGACACTGAATCTGCTGGCACCTTGATTTTGGACTTTCCAGCCTCTAGAATTGTGAGCAATAAATTTCTATTGTTTATTATAAGTTACCCAGTCTAAGGTATTTTTTCATAGCAGCCCAAATGGACTAAGAAAGTAAAGAAAAAAAATTAACAATAAAAAAAATGTTATGCAACCAGGTTTTCAATAAGCTAAATAAAAATTAGAATTGAAAGTCATAAAATTCCTTAACTGGAGAACTAAAACATCATGCTTGTGAAGATTTAGCCACTGAAATGTTTATAGGTAAGGGGATGGTGTGAAATGACTTACTCTATAACCATCTTTTATATAAACAAAAACTGTGAATAATAAAAAAGTAAGAAAATCTCTACAAATACAACCTTCACAACTGTAATAACTGCCCCCTTTACCCCCTAAACAAACACAAAATACAAATAACCACTCTACTATGCTTACAGGTGCCTTTCATGCATGTCATCGTTGAAG c.1021_1066+677delinsTACAAAAGTATTACCTCTTAATACCTCAAGTAGACCCACAATGCAAAAGTTATTAAGAGGTAGGGGCTTTGGAAGATGGTTAGATAACAAGAGCTCTGCCCTCATAAATGGGATTAGTGCTCTTAAAAAAGGGTTCAAGGAAGCTTTTTTATCCCCTTGCCTGTATGAGGACACACAGAAGGTGCCACTTATGAGGAAAGGGTCCTCATCAGACACTGAATCTGCTGGCACCTTGATTTTGGACTTTCCAGCCTCTAGAATTGTGAGCAATAAATTTCTATTGTTTATTATAAGTTACCCAGTCTAAGGTATTTTTTCATAGCAGCCCAAATGGACTAAGAAAGTAAAGAAAAAAAATTAACAATAAAAAAAATGTTATGCAACCAGGTTTTCAATAAGCTAAATAAAAATTAGAATTGAAAGTCATAAAATTCCTTAACTGGAGAACTAAAACATCATGCTTGTGAAGATTTAGCCACTGAAATGTTTATAGGTAAGGGGATGGTGTGAAATGACTTACTCTATAACCATCTTTTATATAAACAAAAACTGTGAATAATAAAAAAGTAAGAAAATCTCTACAAATACAACCTTCACAACTGTAATAACTGCCCCCTTTACCCCCTAAACAAACACAAAATACAAATAACCACTCTACTATGCTTACAGGTGCCTTTCATGCATGTCATCGTTGAAG | ClinVar dbSNP |
| X | g.85894214G>A | CA413788467 | CHM | c.1484C>T (p.Ser495Leu) n.127-31120C>T c.1421C>T (p.Ser474Leu) c.1040C>T (p.Ser347Leu) | |
| X | g.85894214G>C | CA413788468 | CHM | c.1484C>G (p.Ser495Ter) n.127-31120C>G c.1421C>G (p.Ser474Ter) c.1040C>G (p.Ser347Ter) | ClinVar |
| X | g.85894214G= | CA2442456219 | CHM | c.1484C= (p.Ser495=) n.127-31120C= c.1421C= (p.Ser474=) c.1040C= (p.Ser347=) | |
| X | g.85894214G>T | CA255733 | CHM | c.1484C>A (p.Ser495Ter) n.127-31120C>A c.1421C>A (p.Ser474Ter) c.1040C>A (p.Ser347Ter) | ClinVar dbSNP |
| X | g.85894215A>C | CA413788469 | CHM | c.1483T>G (p.Ser495Ala) n.127-31121T>G c.1420T>G (p.Ser474Ala) c.1039T>G (p.Ser347Ala) | |
| X | g.85894215A>G | CA413788471 | CHM | c.1483T>C (p.Ser495Pro) n.127-31121T>C c.1420T>C (p.Ser474Pro) c.1039T>C (p.Ser347Pro) | |
| X | g.85894215A>T | CA413788470 | CHM | c.1483T>A (p.Ser495Thr) n.127-31121T>A c.1420T>A (p.Ser474Thr) c.1039T>A (p.Ser347Thr) | |
| X | g.85894216A>C | CA517493614 | CHM | c.1482T>G (p.Ser494=) n.127-31122T>G c.1419T>G (p.Ser473=) c.1038T>G (p.Ser346=) | |
| X | g.85894216A>G | CA517493615 | CHM | c.1482T>C (p.Ser494=) n.127-31122T>C c.1419T>C (p.Ser473=) c.1038T>C (p.Ser346=) | |
| X | g.85894216A>T | CA517493616 | CHM | c.1482T>A (p.Ser494=) n.127-31122T>A c.1419T>A (p.Ser473=) c.1038T>A (p.Ser346=) | |
| X | g.85894217G>A | CA413788472 | CHM | c.1481C>T (p.Ser494Phe) n.127-31123C>T c.1418C>T (p.Ser473Phe) c.1037C>T (p.Ser346Phe) | |
| X | g.85894217G>C | CA413788474 | CHM | c.1481C>G (p.Ser494Cys) n.127-31123C>G c.1418C>G (p.Ser473Cys) c.1037C>G (p.Ser346Cys) | |
| X | g.85894217G>T | CA413788473 | CHM | c.1481C>A (p.Ser494Tyr) n.127-31123C>A c.1418C>A (p.Ser473Tyr) c.1037C>A (p.Ser346Tyr) | |
| X | g.85894218A>C | CA413788475 | CHM | c.1480T>G (p.Ser494Ala) n.127-31124T>G c.1417T>G (p.Ser473Ala) c.1036T>G (p.Ser346Ala) | |
| X | g.85894218A>G | CA413788477 | CHM | c.1480T>C (p.Ser494Pro) n.127-31124T>C c.1417T>C (p.Ser473Pro) c.1036T>C (p.Ser346Pro) | |
| X | g.85894218A>T | CA413788476 | CHM | c.1480T>A (p.Ser494Thr) n.127-31124T>A c.1417T>A (p.Ser473Thr) c.1036T>A (p.Ser346Thr) | |
| X | g.85894219A= | CA2442456220 | CHM | c.1479T= (p.Cys493=) n.127-31125T= c.1416T= (p.Cys472=) c.1035T= (p.Cys345=) | |
| X | g.85894219A>C | CA413788478 | CHM | c.1479T>G (p.Cys493Trp) n.127-31125T>G c.1416T>G (p.Cys472Trp) c.1035T>G (p.Cys345Trp) | |
| X | g.85894219A>G | CA332649882 | CHM | c.1479T>C (p.Cys493=) n.127-31125T>C c.1416T>C (p.Cys472=) c.1035T>C (p.Cys345=) | dbSNP |
| X | g.85894219A>T | CA413788479 | CHM | c.1479T>A (p.Cys493Ter) n.127-31125T>A c.1416T>A (p.Cys472Ter) c.1035T>A (p.Cys345Ter) | |
| X | g.85894220C>A | CA413788480 | CHM | c.1478G>T (p.Cys493Phe) n.127-31126G>T c.1415G>T (p.Cys472Phe) c.1034G>T (p.Cys345Phe) | |
| X | g.85894220C>G | CA413788481 | CHM | c.1478G>C (p.Cys493Ser) n.127-31126G>C c.1415G>C (p.Cys472Ser) c.1034G>C (p.Cys345Ser) | |
| X | g.85894220C>T | CA413788482 | CHM | c.1478G>A (p.Cys493Tyr) n.127-31126G>A c.1415G>A (p.Cys472Tyr) c.1034G>A (p.Cys345Tyr) | |
| X | g.85894221A= | CA2442456221 | CHM | c.1477T= (p.Cys493=) n.127-31127T= c.1414T= (p.Cys472=) c.1033T= (p.Cys345=) | |
| X | g.85894221A>C | CA413788483 | CHM | c.1477T>G (p.Cys493Gly) n.127-31127T>G c.1414T>G (p.Cys472Gly) c.1033T>G (p.Cys345Gly) | |
| X | g.85894221A>G | CA10465376 | CHM | c.1477T>C (p.Cys493Arg) n.127-31127T>C c.1414T>C (p.Cys472Arg) c.1033T>C (p.Cys345Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.85894221A>T | CA413788484 | CHM | c.1477T>A (p.Cys493Ser) n.127-31127T>A c.1414T>A (p.Cys472Ser) c.1033T>A (p.Cys345Ser) | |
| X | g.85894222_85894223dup | CA2695235676 | CHM | c.1476_1477dup (p.Cys493TyrfsTer6) n.127-31128_127-31127dup c.1413_1414dup (p.Cys472TyrfsTer6) c.1032_1033dup (p.Cys345TyrfsTer6) | |
| X | g.85894222T>A | CA413788485 | CHM | c.1476A>T (p.Leu492Phe) n.127-31128A>T c.1413A>T (p.Leu471Phe) c.1032A>T (p.Leu344Phe) | |
| X | g.85894222T>C | CA517493617 | CHM | c.1476A>G (p.Leu492=) n.127-31128A>G c.1413A>G (p.Leu471=) c.1032A>G (p.Leu344=) | |
| X | g.85894222T>G | CA413788486 | CHM | c.1476A>C (p.Leu492Phe) n.127-31128A>C c.1413A>C (p.Leu471Phe) c.1032A>C (p.Leu344Phe) | |
| X | g.85894222_85894223insTG | CA2695235677 | CHM | c.1475_1476insCA (p.Leu492PhefsTer7) n.127-31129_127-31128insCA c.1412_1413insCA (p.Leu471PhefsTer7) c.1031_1032insCA (p.Leu344PhefsTer7) | |
| X | g.85894223A>C | CA413788489 | CHM | c.1475T>G (p.Leu492Ter) n.127-31129T>G c.1412T>G (p.Leu471Ter) c.1031T>G (p.Leu344Ter) | |
| X | g.85894223A>G | CA413788488 | CHM | c.1475T>C (p.Leu492Ser) n.127-31129T>C c.1412T>C (p.Leu471Ser) c.1031T>C (p.Leu344Ser) | |
| X | g.85894223A>T | CA413788487 | CHM | c.1475T>A (p.Leu492Ter) n.127-31129T>A c.1412T>A (p.Leu471Ter) c.1031T>A (p.Leu344Ter) | |
| X | g.85894224A>C | CA413788490 | CHM | c.1474T>G (p.Leu492Val) n.127-31130T>G c.1411T>G (p.Leu471Val) c.1030T>G (p.Leu344Val) | |
| X | g.85894224A>G | CA517493618 | CHM | c.1474T>C (p.Leu492=) n.127-31130T>C c.1411T>C (p.Leu471=) c.1030T>C (p.Leu344=) | |
| X | g.85894224A>T | CA413788491 | CHM | c.1474T>A (p.Leu492Ile) n.127-31130T>A c.1411T>A (p.Leu471Ile) c.1030T>A (p.Leu344Ile) | |
| X | g.85894225C>A | CA413788492 | CHM | c.1473G>T (p.Glu491Asp) n.127-31131G>T c.1410G>T (p.Glu470Asp) c.1029G>T (p.Glu343Asp) | |
| X | g.85894225C>G | CA413788493 | CHM | c.1473G>C (p.Glu491Asp) n.127-31131G>C c.1410G>C (p.Glu470Asp) c.1029G>C (p.Glu343Asp) | |
| X | g.85894225C>T | CA517493619 | CHM | c.1473G>A (p.Glu491=) n.127-31131G>A c.1410G>A (p.Glu470=) c.1029G>A (p.Glu343=) | ClinVar dbSNP gnomAD v4 |
| X | g.85894226T>A | CA413788494 | CHM | c.1472A>T (p.Glu491Val) n.127-31132A>T c.1409A>T (p.Glu470Val) c.1028A>T (p.Glu343Val) | |
| X | g.85894226T>C | CA413788495 | CHM | c.1472A>G (p.Glu491Gly) n.127-31132A>G c.1409A>G (p.Glu470Gly) c.1028A>G (p.Glu343Gly) | |
| X | g.85894226T>G | CA413788496 | CHM | c.1472A>C (p.Glu491Ala) n.127-31132A>C c.1409A>C (p.Glu470Ala) c.1028A>C (p.Glu343Ala) | |
| X | g.85894227C>A | CA255736 | CHM | c.1471G>T (p.Glu491Ter) n.127-31133G>T c.1408G>T (p.Glu470Ter) c.1027G>T (p.Glu343Ter) | ClinVar dbSNP |
| X | g.85894227C= | CA2442456222 | CHM | c.1471G= (p.Glu491=) n.127-31133G= c.1408G= (p.Glu470=) c.1027G= (p.Glu343=) | |
| X | g.85894227C>G | CA413788497 | CHM | c.1471G>C (p.Glu491Gln) n.127-31133G>C c.1408G>C (p.Glu470Gln) c.1027G>C (p.Glu343Gln) | |
| X | g.85894227C>T | CA413788498 | CHM | c.1471G>A (p.Glu491Lys) n.127-31133G>A c.1408G>A (p.Glu470Lys) c.1027G>A (p.Glu343Lys) | |
| X | g.85894228A>C | CA413788499 | CHM | c.1470T>G (p.Ile490Met) n.127-31134T>G c.1407T>G (p.Ile469Met) c.1026T>G (p.Ile342Met) |