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.48689042_48689638delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA | CA2428355807 | WAS | c.1314_1453+204delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA c.1158_1297+204delinsCCGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTGTGCTGATCCCTGCCTGCTGCAGACCCCTGGGGCCCCAGAGAGCTCAGCGCTGCAGCCACCACCTCAGAGCTCAGAGGGACTGGTGGGGGCCCTGATGCACGTGATGCAGAAGAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCAAACCTGGCTCCCAGGGCTAGCACTGGCCTCAAAACAATCCCAGCAGTCACCACCAATAGTGACATCAGCCCCATCTGTTTGACAGCATTAACATGAATCTTGTGTCAGCCTCGTTTTTGACAATGTTAACATTAAGTCATTATGTGACAATAATATAATTAACTCCAACTTTGACAGTA | |
| X | g.48689043_48689638del | CA915951088 | WAS | c.1315_1453+204del c.1159_1297+204del | ClinVar dbSNP |
| X | g.48689323C>A | CA412873779 | WAS | n.586C>A c.1342C>A (p.Pro448Thr) n.51C>A c.1186C>A (p.Pro396Thr) | |
| X | g.48689323C>G | CA412873780 | WAS | n.586C>G c.1342C>G (p.Pro448Ala) n.51C>G c.1186C>G (p.Pro396Ala) | |
| X | g.48689323C>T | CA412873781 | WAS | n.586C>T c.1342C>T (p.Pro448Ser) n.51C>T c.1186C>T (p.Pro396Ser) | ClinVar |
| X | g.48689324C>A | CA412873782 | WAS | n.587C>A c.1343C>A (p.Pro448His) n.52C>A c.1187C>A (p.Pro396His) | gnomAD v4 |
| X | g.48689324C= | CA2428355918 | WAS | n.587C= c.1343C= (p.Pro448=) n.52C= c.1187C= (p.Pro396=) | |
| X | g.48689324C>G | CA412873783 | WAS | n.587C>G c.1343C>G (p.Pro448Arg) n.52C>G c.1187C>G (p.Pro396Arg) | |
| X | g.48689324C>T | CA412873784 | WAS | n.587C>T c.1343C>T (p.Pro448Leu) n.52C>T c.1187C>T (p.Pro396Leu) | dbSNP |
| X | g.48689325T>A | CA516023861 | WAS | n.588T>A c.1344T>A (p.Pro448=) n.53T>A c.1188T>A (p.Pro396=) | gnomAD v4 |
| X | g.48689325T>C | CA516023862 | WAS | n.588T>C c.1344T>C (p.Pro448=) n.53T>C c.1188T>C (p.Pro396=) | |
| X | g.48689325T>G | CA516023863 | WAS | n.588T>G c.1344T>G (p.Pro448=) n.53T>G c.1188T>G (p.Pro396=) | |
| X | g.48689326G>A | CA412873785 | WAS | n.589G>A c.1345G>A (p.Gly449Arg) n.54G>A c.1189G>A (p.Gly397Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48689326G>C | CA412873786 | WAS | n.589G>C c.1345G>C (p.Gly449Arg) n.54G>C c.1189G>C (p.Gly397Arg) | |
| X | g.48689326G= | CA2428355919 | WAS | n.589G= c.1345G= (p.Gly449=) n.54G= c.1189G= (p.Gly397=) | |
| X | g.48689326G>T | CA412873787 | WAS | n.589G>T c.1345G>T (p.Gly449Trp) n.54G>T c.1189G>T (p.Gly397Trp) | |
| X | g.48689329del | CA2695233810 | WAS | n.592del c.1348del (p.Ala450ProfsTer21) n.57del c.1192del (p.Ala398ProfsTer21) | |
| X | g.48689327G>A | CA412873788 | WAS | n.590G>A c.1346G>A (p.Gly449Glu) n.55G>A c.1190G>A (p.Gly397Glu) | |
| X | g.48689327G>C | CA412873789 | WAS | n.590G>C c.1346G>C (p.Gly449Ala) n.55G>C c.1190G>C (p.Gly397Ala) | |
| X | g.48689327G>T | CA412873790 | WAS | n.590G>T c.1346G>T (p.Gly449Val) n.55G>T c.1190G>T (p.Gly397Val) | |
| X | g.48689328_48689335del | CA2695233811 | WAS | n.591_598del c.1347_1354del (p.Ala450GlufsTer?) n.56_63del c.1191_1198del (p.Ala398GlufsTer?) | |
| X | g.48689328G>A | CA516023864 | WAS | n.591G>A c.1347G>A (p.Gly449=) n.56G>A c.1191G>A (p.Gly397=) | |
| X | g.48689328G>C | CA516023866 | WAS | n.591G>C c.1347G>C (p.Gly449=) n.56G>C c.1191G>C (p.Gly397=) | |
| X | g.48689328G>T | CA516023865 | WAS | n.591G>T c.1347G>T (p.Gly449=) n.56G>T c.1191G>T (p.Gly397=) | |
| X | g.48689329G>A | CA412873793 | WAS | n.592G>A c.1348G>A (p.Ala450Thr) n.57G>A c.1192G>A (p.Ala398Thr) | |
| X | g.48689329G>C | CA412873792 | WAS | n.592G>C c.1348G>C (p.Ala450Pro) n.57G>C c.1192G>C (p.Ala398Pro) | |
| X | g.48689329G>T | CA412873791 | WAS | n.592G>T c.1348G>T (p.Ala450Ser) n.57G>T c.1192G>T (p.Ala398Ser) | |
| X | g.48689330C>A | CA412873794 | WAS | n.593C>A c.1349C>A (p.Ala450Asp) n.58C>A c.1193C>A (p.Ala398Asp) | |
| X | g.48689330C>G | CA412873796 | WAS | n.593C>G c.1349C>G (p.Ala450Gly) n.58C>G c.1193C>G (p.Ala398Gly) | |
| X | g.48689330C>T | CA412873795 | WAS | n.593C>T c.1349C>T (p.Ala450Val) n.58C>T c.1193C>T (p.Ala398Val) | |
| X | g.48689333del | CA2579600765 | WAS | n.596del c.1352del (p.Pro451GlnfsTer20) n.61del c.1196del (p.Pro399GlnfsTer20) | |
| X | g.48689331C>A | CA516023867 | WAS | n.594C>A c.1350C>A (p.Ala450=) n.59C>A c.1194C>A (p.Ala398=) | |
| X | g.48689331C>G | CA516023868 | WAS | n.594C>G c.1350C>G (p.Ala450=) n.59C>G c.1194C>G (p.Ala398=) | |
| X | g.48689331C>T | CA516023869 | WAS | n.594C>T c.1350C>T (p.Ala450=) n.59C>T c.1194C>T (p.Ala398=) | |
| X | g.48689332C>A | CA412873797 | WAS | n.595C>A c.1351C>A (p.Pro451Thr) n.60C>A c.1195C>A (p.Pro399Thr) | |
| X | g.48689332C>G | CA412873799 | WAS | n.595C>G c.1351C>G (p.Pro451Ala) n.60C>G c.1195C>G (p.Pro399Ala) | |
| X | g.48689332C>T | CA412873798 | WAS | n.595C>T c.1351C>T (p.Pro451Ser) n.60C>T c.1195C>T (p.Pro399Ser) | |
| X | g.48689333C>A | CA412873800 | WAS | n.596C>A c.1352C>A (p.Pro451Gln) n.61C>A c.1196C>A (p.Pro399Gln) | |
| X | g.48689333C>G | CA412873801 | WAS | n.596C>G c.1352C>G (p.Pro451Arg) n.61C>G c.1196C>G (p.Pro399Arg) | |
| X | g.48689333C>T | CA412873802 | WAS | n.596C>T c.1352C>T (p.Pro451Leu) n.61C>T c.1196C>T (p.Pro399Leu) | |
| X | g.48689334A>C | CA516023871 | WAS | n.597A>C c.1353A>C (p.Pro451=) n.62A>C c.1197A>C (p.Pro399=) | |
| X | g.48689334A>G | CA516023872 | WAS | n.597A>G c.1353A>G (p.Pro451=) n.62A>G c.1197A>G (p.Pro399=) | |
| X | g.48689334A>T | CA516023873 | WAS | n.597A>T c.1353A>T (p.Pro451=) n.62A>T c.1197A>T (p.Pro399=) | |
| X | g.48689335G>A | CA329102747 | WAS | n.598G>A c.1354G>A (p.Glu452Lys) n.63G>A c.1198G>A (p.Glu400Lys) | dbSNP gnomAD v2 |
| X | g.48689335G>C | CA412873803 | WAS | n.598G>C c.1354G>C (p.Glu452Gln) n.63G>C c.1198G>C (p.Glu400Gln) | |
| X | g.48689335G= | CA2428355920 | WAS | n.598G= c.1354G= (p.Glu452=) n.63G= c.1198G= (p.Glu400=) | |
| X | g.48689335G>T | CA412873804 | WAS | n.598G>T c.1354G>T (p.Glu452Ter) n.63G>T c.1198G>T (p.Glu400Ter) | |
| X | g.48689336A>C | CA412873807 | WAS | n.599A>C c.1355A>C (p.Glu452Ala) n.64A>C c.1199A>C (p.Glu400Ala) | |
| X | g.48689336A>G | CA412873805 | WAS | n.599A>G c.1355A>G (p.Glu452Gly) n.64A>G c.1199A>G (p.Glu400Gly) | |
| X | g.48689336A>T | CA412873806 | WAS | n.599A>T c.1355A>T (p.Glu452Val) n.64A>T c.1199A>T (p.Glu400Val) |