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.139551025_139551347delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG | CA2461408577 | F9 | c.521-37_723+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG n.1188-37_1390+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG c.407-37_609+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG c.392-37_594+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG | |
| X | g.139551027_139551348del | CA915952348 | F9 | c.521-35_723+84del n.1188-35_1390+84del c.407-35_609+84del c.392-35_594+84del | ClinVar dbSNP |
| X | g.139551115_139551130delinsGCTGAGACTGTTTTTC | CA2461408603 | F9 | c.574_589delinsGCTGAGACTGTTTTTC (p.Ala192=) n.1241_1256delinsGCTGAGACTGTTTTTC c.460_475delinsGCTGAGACTGTTTTTC (p.Ala154=) c.445_460delinsGCTGAGACTGTTTTTC (p.Ala149=) | |
| X | g.139551120_139551134del | CA872122347 | F9 | c.579_593del (p.Glu193_Pro197del) n.1246_1260del c.465_479del (p.Glu155_Pro159del) c.450_464del (p.Glu150_Pro154del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.139551120G>A | CA518861671 | F9 | c.579G>A (p.Glu193=) n.1246G>A c.465G>A (p.Glu155=) c.450G>A (p.Glu150=) | ClinVar dbSNP gnomAD v4 |
| X | g.139551120G>C | CA414440603 | F9 | c.579G>C (p.Glu193Asp) n.1246G>C c.465G>C (p.Glu155Asp) c.450G>C (p.Glu150Asp) | |
| X | g.139551120G>T | CA414440601 | F9 | c.579G>T (p.Glu193Asp) n.1246G>T c.465G>T (p.Glu155Asp) c.450G>T (p.Glu150Asp) | gnomAD v4 |
| X | g.139551121A= | CA2461408606 | F9 | c.580A= (p.Thr194=) n.1247A= c.466A= (p.Thr156=) c.451A= (p.Thr151=) | |
| X | g.139551121A>C | CA414440604 | F9 | c.580A>C (p.Thr194Pro) n.1247A>C c.466A>C (p.Thr156Pro) c.451A>C (p.Thr151Pro) | |
| X | g.139551121A>G | CA121125 | F9 | c.580A>G (p.Thr194Ala) n.1247A>G c.466A>G (p.Thr156Ala) c.451A>G (p.Thr151Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.139551121A>T | CA414440605 | F9 | c.580A>T (p.Thr194Ser) n.1247A>T c.466A>T (p.Thr156Ser) c.451A>T (p.Thr151Ser) | |
| X | g.139551122C>A | CA414440606 | F9 | c.581C>A (p.Thr194Asn) n.1248C>A c.467C>A (p.Thr156Asn) c.452C>A (p.Thr151Asn) | |
| X | g.139551122C>G | CA414440608 | F9 | c.581C>G (p.Thr194Ser) n.1248C>G c.467C>G (p.Thr156Ser) c.452C>G (p.Thr151Ser) | |
| X | g.139551122C>T | CA414440610 | F9 | c.581C>T (p.Thr194Ile) n.1248C>T c.467C>T (p.Thr156Ile) c.452C>T (p.Thr151Ile) | |
| X | g.139551123T>A | CA518861672 | F9 | c.582T>A (p.Thr194=) n.1249T>A c.468T>A (p.Thr156=) c.453T>A (p.Thr151=) | |
| X | g.139551123T>C | CA518861673 | F9 | c.582T>C (p.Thr194=) n.1249T>C c.468T>C (p.Thr156=) c.453T>C (p.Thr151=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.139551123T>G | CA10529812 | F9 | c.582T>G (p.Thr194=) n.1249T>G c.468T>G (p.Thr156=) c.453T>G (p.Thr151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.139551123T= | CA2461408607 | F9 | c.582T= (p.Thr194=) n.1249T= c.468T= (p.Thr156=) c.453T= (p.Thr151=) | |
| X | g.139551124_139551125del | CA2695236185 | F9 | c.583_584del (p.Val195PhefsTer3) n.1250_1251del c.469_470del (p.Val157PhefsTer3) c.454_455del (p.Val152PhefsTer3) | |
| X | g.139551124G>A | CA414440611 | F9 | c.583G>A (p.Val195Ile) n.1250G>A c.469G>A (p.Val157Ile) c.454G>A (p.Val152Ile) | |
| X | g.139551124G>C | CA414440614 | F9 | c.583G>C (p.Val195Leu) n.1250G>C c.469G>C (p.Val157Leu) c.454G>C (p.Val152Leu) | |
| X | g.139551124G>T | CA414440616 | F9 | c.583G>T (p.Val195Phe) n.1250G>T c.469G>T (p.Val157Phe) c.454G>T (p.Val152Phe) | |
| X | g.139551125T>A | CA414440618 | F9 | c.584T>A (p.Val195Asp) n.1251T>A c.470T>A (p.Val157Asp) c.455T>A (p.Val152Asp) | ClinVar dbSNP |
| X | g.139551125T>C | CA414440623 | F9 | c.584T>C (p.Val195Ala) n.1251T>C c.470T>C (p.Val157Ala) c.455T>C (p.Val152Ala) | |
| X | g.139551125T>G | CA336137420 | F9 | c.584T>G (p.Val195Gly) n.1251T>G c.470T>G (p.Val157Gly) c.455T>G (p.Val152Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.139551125T= | CA2461408608 | F9 | c.584T= (p.Val195=) n.1251T= c.470T= (p.Val157=) c.455T= (p.Val152=) | |
| X | g.139551129dup | CA645610452 | F9 | c.588dup (p.Pro197SerfsTer2) n.1255dup c.474dup (p.Pro159SerfsTer2) c.459dup (p.Pro154SerfsTer2) | COSMIC |
| X | g.139551126T>A | CA518861674 | F9 | c.585T>A (p.Val195=) n.1252T>A c.471T>A (p.Val157=) c.456T>A (p.Val152=) | |
| X | g.139551126T>C | CA518861675 | F9 | c.585T>C (p.Val195=) n.1252T>C c.471T>C (p.Val157=) c.456T>C (p.Val152=) | |
| X | g.139551126T>G | CA518861676 | F9 | c.585T>G (p.Val195=) n.1252T>G c.471T>G (p.Val157=) c.456T>G (p.Val152=) | |
| X | g.139551127T>A | CA414440625 | F9 | c.586T>A (p.Phe196Ile) n.1253T>A c.472T>A (p.Phe158Ile) c.457T>A (p.Phe153Ile) | |
| X | g.139551127T>C | CA414440627 | F9 | c.586T>C (p.Phe196Leu) n.1253T>C c.472T>C (p.Phe158Leu) c.457T>C (p.Phe153Leu) | |
| X | g.139551127T>G | CA414440626 | F9 | c.586T>G (p.Phe196Val) n.1253T>G c.472T>G (p.Phe158Val) c.457T>G (p.Phe153Val) | |
| X | g.139551128T>A | CA414440628 | F9 | c.587T>A (p.Phe196Tyr) n.1254T>A c.473T>A (p.Phe158Tyr) c.458T>A (p.Phe153Tyr) | |
| X | g.139551128T>C | CA414440629 | F9 | c.587T>C (p.Phe196Ser) n.1254T>C c.473T>C (p.Phe158Ser) c.458T>C (p.Phe153Ser) | |
| X | g.139551128T>G | CA414440631 | F9 | c.587T>G (p.Phe196Cys) n.1254T>G c.473T>G (p.Phe158Cys) c.458T>G (p.Phe153Cys) | |
| X | g.139551129T>A | CA414440632 | F9 | c.588T>A (p.Phe196Leu) n.1255T>A c.474T>A (p.Phe158Leu) c.459T>A (p.Phe153Leu) | |
| X | g.139551129T>C | CA518861681 | F9 | c.588T>C (p.Phe196=) n.1255T>C c.474T>C (p.Phe158=) c.459T>C (p.Phe153=) | gnomAD v4 |
| X | g.139551129T>G | CA414440634 | F9 | c.588T>G (p.Phe196Leu) n.1255T>G c.474T>G (p.Phe158Leu) c.459T>G (p.Phe153Leu) | |
| X | g.139551130C>A | CA414440636 | F9 | c.589C>A (p.Pro197Thr) n.1256C>A c.475C>A (p.Pro159Thr) c.460C>A (p.Pro154Thr) | |
| X | g.139551130C= | CA2461408609 | F9 | c.589C= (p.Pro197=) n.1256C= c.475C= (p.Pro159=) c.460C= (p.Pro154=) | |
| X | g.139551130C>G | CA414440641 | F9 | c.589C>G (p.Pro197Ala) n.1256C>G c.475C>G (p.Pro159Ala) c.460C>G (p.Pro154Ala) | |
| X | g.139551130C>T | CA336137425 | F9 | c.589C>T (p.Pro197Ser) n.1256C>T c.475C>T (p.Pro159Ser) c.460C>T (p.Pro154Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.139551131C>A | CA414440643 | F9 | c.590C>A (p.Pro197His) n.1257C>A c.476C>A (p.Pro159His) c.461C>A (p.Pro154His) | |
| X | g.139551131C>G | CA414440644 | F9 | c.590C>G (p.Pro197Arg) n.1257C>G c.476C>G (p.Pro159Arg) c.461C>G (p.Pro154Arg) | |
| X | g.139551131C>T | CA414440645 | F9 | c.590C>T (p.Pro197Leu) n.1257C>T c.476C>T (p.Pro159Leu) c.461C>T (p.Pro154Leu) | ClinVar |
| X | g.139551132T>A | CA518861688 | F9 | c.591T>A (p.Pro197=) n.1258T>A c.477T>A (p.Pro159=) c.462T>A (p.Pro154=) | |
| X | g.139551132T>C | CA518861690 | F9 | c.591T>C (p.Pro197=) n.1258T>C c.477T>C (p.Pro159=) c.462T>C (p.Pro154=) | |
| X | g.139551132T>G | CA518861691 | F9 | c.591T>G (p.Pro197=) n.1258T>G c.477T>G (p.Pro159=) c.462T>G (p.Pro154=) | |
| X | g.139551133G>A | CA414440649 | F9 | c.592G>A (p.Asp198Asn) n.1259G>A c.478G>A (p.Asp160Asn) c.463G>A (p.Asp155Asn) |