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.48689423T>A | CA121363 | WAS | c.1442T>A (p.Ile481Asn) n.151T>A c.1286T>A (p.Ile429Asn) | ClinVar dbSNP |
| X | g.48689423T>C | CA412874003 | WAS | c.1442T>C (p.Ile481Thr) n.151T>C c.1286T>C (p.Ile429Thr) | |
| X | g.48689423T>G | CA412874004 | WAS | c.1442T>G (p.Ile481Ser) n.151T>G c.1286T>G (p.Ile429Ser) | |
| X | g.48689423T= | CA2428355945 | WAS | c.1442T= (p.Ile481=) n.151T= c.1286T= (p.Ile429=) | |
| X | g.48689424C>A | CA516024008 | WAS | c.1443C>A (p.Ile481=) n.152C>A c.1287C>A (p.Ile429=) | |
| X | g.48689424C>G | CA412874005 | WAS | c.1443C>G (p.Ile481Met) n.152C>G c.1287C>G (p.Ile429Met) | |
| X | g.48689424C>T | CA516024010 | WAS | c.1443C>T (p.Ile481=) n.152C>T c.1287C>T (p.Ile429=) | |
| X | g.48689425C>A | CA412874006 | WAS | c.1444C>A (p.His482Asn) n.153C>A c.1288C>A (p.His430Asn) | |
| X | g.48689425C>G | CA412874007 | WAS | c.1444C>G (p.His482Asp) n.153C>G c.1288C>G (p.His430Asp) | |
| X | g.48689425C>T | CA412874008 | WAS | c.1444C>T (p.His482Tyr) n.153C>T c.1288C>T (p.His430Tyr) | gnomAD v4 |
| X | g.48689426A>C | CA412874010 | WAS | c.1445A>C (p.His482Pro) n.154A>C c.1289A>C (p.His430Pro) | |
| X | g.48689426A>G | CA412874011 | WAS | c.1445A>G (p.His482Arg) n.154A>G c.1289A>G (p.His430Arg) | |
| X | g.48689426A>T | CA412874009 | WAS | c.1445A>T (p.His482Leu) n.154A>T c.1289A>T (p.His430Leu) | |
| X | g.48689427C>A | CA412874012 | WAS | c.1446C>A (p.His482Gln) n.155C>A c.1290C>A (p.His430Gln) | |
| X | g.48689427C>G | CA412874013 | WAS | c.1446C>G (p.His482Gln) n.155C>G c.1290C>G (p.His430Gln) | |
| X | g.48689427C>T | CA516024014 | WAS | c.1446C>T (p.His482=) n.155C>T c.1290C>T (p.His430=) | |
| X | g.48689428T>A | CA412874014 | WAS | c.1447T>A (p.Ser483Thr) n.156T>A c.1291T>A (p.Ser431Thr) | |
| X | g.48689428T>C | CA412874015 | WAS | c.1447T>C (p.Ser483Pro) n.156T>C c.1291T>C (p.Ser431Pro) | gnomAD v4 |
| X | g.48689428T>G | CA412874016 | WAS | c.1447T>G (p.Ser483Ala) n.156T>G c.1291T>G (p.Ser431Ala) | |
| X | g.48689428dup | CA2695233816 | WAS | c.1447dup (p.Ser483PhefsTer12) c.1447dup (p.Ser483PhefsTer?) n.156dup c.1291dup (p.Ser431PhefsTer12) | |
| X | g.48689429C>A | CA412874019 | WAS | c.1448C>A (p.Ser483Tyr) n.157C>A c.1292C>A (p.Ser431Tyr) | |
| X | g.48689429C>G | CA412874018 | WAS | c.1448C>G (p.Ser483Cys) n.157C>G c.1292C>G (p.Ser431Cys) | |
| X | g.48689429C>T | CA412874017 | WAS | c.1448C>T (p.Ser483Phe) n.157C>T c.1292C>T (p.Ser431Phe) | |
| X | g.48689430del | CA2695233817 | WAS | c.1449del (p.Ser484ProfsTer?) n.158del c.1293del (p.Ser432ProfsTer?) | |
| X | g.48689430C>A | CA516024017 | WAS | c.1449C>A (p.Ser483=) n.158C>A c.1293C>A (p.Ser431=) | gnomAD v4 |
| X | g.48689430C>G | CA516024018 | WAS | c.1449C>G (p.Ser483=) n.158C>G c.1293C>G (p.Ser431=) | |
| X | g.48689430C>T | CA516024019 | WAS | c.1449C>T (p.Ser483=) n.158C>T c.1293C>T (p.Ser431=) | |
| X | g.48689431T>A | CA412874020 | WAS | c.1450T>A (p.Ser484Thr) n.159T>A c.1294T>A (p.Ser432Thr) | |
| X | g.48689431T>C | CA412874021 | WAS | c.1450T>C (p.Ser484Pro) n.159T>C c.1294T>C (p.Ser432Pro) | |
| X | g.48689431T>G | CA412874022 | WAS | c.1450T>G (p.Ser484Ala) n.159T>G c.1294T>G (p.Ser432Ala) | |
| X | g.48689432C>A | CA412874023 | WAS | c.1451C>A (p.Ser484Tyr) n.160C>A c.1295C>A (p.Ser432Tyr) | |
| X | g.48689432C>G | CA412874024 | WAS | c.1451C>G (p.Ser484Cys) n.160C>G c.1295C>G (p.Ser432Cys) | |
| X | g.48689432C>T | CA412874025 | WAS | c.1451C>T (p.Ser484Phe) n.160C>T c.1295C>T (p.Ser432Phe) | |
| X | g.48689433C>A | CA516024023 | WAS | c.1452C>A (p.Ser484=) n.161C>A c.1296C>A (p.Ser432=) | |
| X | g.48689433C= | CA2428355946 | WAS | c.1452C= (p.Ser484=) n.161C= c.1296C= (p.Ser432=) | |
| X | g.48689433C>G | CA516024026 | WAS | c.1452C>G (p.Ser484=) n.161C>G c.1296C>G (p.Ser432=) | |
| X | g.48689433C>T | CA516024024 | WAS | c.1452C>T (p.Ser484=) n.161C>T c.1296C>T (p.Ser432=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.48689434G>A | CA16621420 | WAS | c.1453G>A (p.Asp485Asn) c.1453G>A (p.Gly485Arg) n.162G>A c.1297G>A (p.Asp433Asn) | ClinVar dbSNP |
| X | g.48689434G>C | CA412874027 | WAS | c.1453G>C (p.Asp485His) c.1453G>C (p.Gly485Arg) n.162G>C c.1297G>C (p.Asp433His) | |
| X | g.48689434G= | CA2428355947 | WAS | c.1453G= (p.Asp485=) c.1453G= (p.Gly485=) n.162G= c.1297G= (p.Asp433=) | |
| X | g.48689434G>T | CA412874026 | WAS | c.1453G>T (p.Asp485Tyr) c.1453G>T (p.Gly485Trp) n.162G>T c.1297G>T (p.Asp433Tyr) | gnomAD v4 |
| X | g.48689435del | CA2695233818 | WAS | c.1453+1del n.163del c.1297+1del | |
| X | g.48689435G>A | CA412874028 | WAS | c.1453+1G>A (n.1453+1G>A) n.163G>A c.1297+1G>A (n.1297+1G>A) | ClinVar |
| X | g.48689435G>C | CA412874029 | WAS | c.1453+1G>C (n.1453+1G>C) n.163G>C c.1297+1G>C (n.1297+1G>C) | |
| X | g.48689435G>T | CA412874030 | WAS | c.1453+1G>T (n.1453+1G>T) n.163G>T c.1297+1G>T (n.1297+1G>T) | |
| X | g.48689436T>A | CA412874031 | WAS | c.1453+2T>A (n.1453+2T>A) n.164T>A c.1297+2T>A (n.1297+2T>A) | |
| X | g.48689436T>C | CA412874032 | WAS | c.1453+2T>C (n.1453+2T>C) n.164T>C c.1297+2T>C (n.1297+2T>C) | |
| X | g.48689436T>G | CA412874033 | WAS | c.1453+2T>G (n.1453+2T>G) n.164T>G c.1297+2T>G (n.1297+2T>G) | ClinVar dbSNP |