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 |
|---|---|---|---|---|---|
| 21 | g.34886940_34886967delinsTGGTCGGCCAGCACCTCCACCATGCTGC | CA2387297159 | RUNX1 | c.227_254delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg76=) c.146_173delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg49=) c.191_218delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg64=) c.188_215delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg63=) c.59-6254_59-6227delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (n.59-6254_59-6227delinsGCAGCATGGTGGAGGTGCTGGCCGACCA) n.406_433delinsGCAGCATGGTGGAGGTGCTGGCCGACCA c.74_101delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg25=) n.453_480delinsGCAGCATGGTGGAGGTGCTGGCCGACCA | |
| 21 | g.34886941G>A | CA410203798 | RUNX1 | c.253C>T (p.His85Tyr) c.172C>T (p.His58Tyr) c.217C>T (p.His73Tyr) c.214C>T (p.His72Tyr) c.59-6228C>T (n.59-6228C>T) n.432C>T c.100C>T (p.His34Tyr) n.479C>T | ClinVar dbSNP |
| 21 | g.34886941G>C | CA410203799 | RUNX1 | c.253C>G (p.His85Asp) c.172C>G (p.His58Asp) c.217C>G (p.His73Asp) c.214C>G (p.His72Asp) c.59-6228C>G (n.59-6228C>G) n.432C>G c.100C>G (p.His34Asp) n.479C>G | |
| 21 | g.34886941G= | CA2387297161 | RUNX1 | c.253C= (p.His85=) c.172C= (p.His58=) c.217C= (p.His73=) c.214C= (p.His72=) c.59-6228C= (n.59-6228C=) n.432C= c.100C= (p.His34=) n.479C= | |
| 21 | g.34886941G>T | CA123975 | RUNX1 | c.253C>A (p.His85Asn) c.172C>A (p.His58Asn) c.217C>A (p.His73Asn) c.214C>A (p.His72Asn) c.59-6228C>A (n.59-6228C>A) n.432C>A c.100C>A (p.His34Asn) n.479C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.34886942dup | CA645607449 | RUNX1 | c.253dup (p.His85ProfsTer?) c.172dup (p.His58ProfsTer?) c.217dup (p.His73ProfsTer?) c.214dup (p.His72ProfsTer?) c.59-6228dup (n.59-6228dup) n.432dup c.100dup (p.His34ProfsTer?) n.479dup | COSMIC COSMIC |
| 21 | g.34886941_34886942dup | CA915940742 | RUNX1 | c.252_253dup (p.His85ProfsTer?) c.171_172dup (p.His58ProfsTer?) c.216_217dup (p.His73ProfsTer?) c.213_214dup (p.His72ProfsTer?) c.59-6229_59-6228dup (n.59-6229_59-6228dup) n.431_432dup c.99_100dup (p.His34ProfsTer?) n.478_479dup | |
| 21 | g.34886946_34886972del | CA2387297160 | RUNX1 | c.227_253del (p.Arg76_Asp84del) c.146_172del (p.Arg49_Asp57del) c.191_217del (p.Arg64_Asp72del) c.188_214del (p.Arg63_Asp71del) c.59-6254_59-6228del (n.59-6254_59-6228del) n.406_432del c.74_100del (p.Arg25_Asp33del) n.453_479del | dbSNP |
| 21 | g.34886942G>A | CA512318887 | RUNX1 | c.252C>T (p.Asp84=) c.171C>T (p.Asp57=) c.216C>T (p.Asp72=) c.213C>T (p.Asp71=) c.59-6229C>T (n.59-6229C>T) n.431C>T c.99C>T (p.Asp33=) n.478C>T | dbSNP gnomAD v4 |
| 21 | g.34886942G>C | CA16622098 | RUNX1 | c.252C>G (p.Asp84Glu) c.171C>G (p.Asp57Glu) c.216C>G (p.Asp72Glu) c.213C>G (p.Asp71Glu) c.59-6229C>G (n.59-6229C>G) n.431C>G c.99C>G (p.Asp33Glu) n.478C>G | ClinVar dbSNP |
| 21 | g.34886942G= | CA2387297162 | RUNX1 | c.252C= (p.Asp84=) c.171C= (p.Asp57=) c.216C= (p.Asp72=) c.213C= (p.Asp71=) c.59-6229C= (n.59-6229C=) n.431C= c.99C= (p.Asp33=) n.478C= | |
| 21 | g.34886942G>T | CA410203800 | RUNX1 | c.252C>A (p.Asp84Glu) c.171C>A (p.Asp57Glu) c.216C>A (p.Asp72Glu) c.213C>A (p.Asp71Glu) c.59-6229C>A (n.59-6229C>A) n.431C>A c.99C>A (p.Asp33Glu) n.478C>A | |
| 21 | g.34886943_34886945del | CA2737785031 | RUNX1 | c.250_252del (p.Asp84del) c.169_171del (p.Asp57del) c.214_216del (p.Asp72del) c.211_213del (p.Asp71del) c.59-6231_59-6229del (n.59-6231_59-6229del) n.429_431del c.97_99del (p.Asp33del) n.476_478del | dbSNP |
| 21 | g.34886943T>A | CA410203801 | RUNX1 | c.251A>T (p.Asp84Val) c.170A>T (p.Asp57Val) c.215A>T (p.Asp72Val) c.212A>T (p.Asp71Val) c.59-6230A>T (n.59-6230A>T) n.430A>T c.98A>T (p.Asp33Val) n.477A>T | dbSNP |
| 21 | g.34886943T>C | CA410203802 | RUNX1 | c.251A>G (p.Asp84Gly) c.170A>G (p.Asp57Gly) c.215A>G (p.Asp72Gly) c.212A>G (p.Asp71Gly) c.59-6230A>G (n.59-6230A>G) n.430A>G c.98A>G (p.Asp33Gly) n.477A>G | ClinVar dbSNP |
| 21 | g.34886943T>G | CA410203803 | RUNX1 | c.251A>C (p.Asp84Ala) c.170A>C (p.Asp57Ala) c.215A>C (p.Asp72Ala) c.212A>C (p.Asp71Ala) c.59-6230A>C (n.59-6230A>C) n.430A>C c.98A>C (p.Asp33Ala) n.477A>C | dbSNP |
| 21 | g.34886944C>A | CA410203804 | RUNX1 | c.250G>T (p.Asp84Tyr) c.169G>T (p.Asp57Tyr) c.214G>T (p.Asp72Tyr) c.211G>T (p.Asp71Tyr) c.59-6231G>T (n.59-6231G>T) n.429G>T c.97G>T (p.Asp33Tyr) n.476G>T | |
| 21 | g.34886944C= | CA2387297163 | RUNX1 | c.250G= (p.Asp84=) c.169G= (p.Asp57=) c.214G= (p.Asp72=) c.211G= (p.Asp71=) c.59-6231G= (n.59-6231G=) n.429G= c.97G= (p.Asp33=) n.476G= | |
| 21 | g.34886944C>G | CA410203805 | RUNX1 | c.250G>C (p.Asp84His) c.169G>C (p.Asp57His) c.214G>C (p.Asp72His) c.211G>C (p.Asp71His) c.59-6231G>C (n.59-6231G>C) n.429G>C c.97G>C (p.Asp33His) n.476G>C | dbSNP |
| 21 | g.34886944C>T | CA10014562 | RUNX1 | c.250G>A (p.Asp84Asn) c.169G>A (p.Asp57Asn) c.214G>A (p.Asp72Asn) c.211G>A (p.Asp71Asn) c.59-6231G>A (n.59-6231G>A) n.429G>A c.97G>A (p.Asp33Asn) n.476G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.34886944_34886945dup | CA2695202283 | RUNX1 | c.249_250dup (p.Asp84AlafsTer?) c.168_169dup (p.Asp57AlafsTer?) c.213_214dup (p.Asp72AlafsTer?) c.210_211dup (p.Asp71AlafsTer?) c.59-6232_59-6231dup (n.59-6232_59-6231dup) n.428_429dup c.96_97dup (p.Asp33AlafsTer?) n.475_476dup | |
| 21 | g.34886945G>A | CA512318889 | RUNX1 | c.249C>T (p.Ala83=) c.168C>T (p.Ala56=) c.213C>T (p.Ala71=) c.210C>T (p.Ala70=) c.59-6232C>T (n.59-6232C>T) n.428C>T c.96C>T (p.Ala32=) n.475C>T | ClinVar dbSNP |
| 21 | g.34886945G>C | CA10014563 | RUNX1 | c.249C>G (p.Ala83=) c.168C>G (p.Ala56=) c.213C>G (p.Ala71=) c.210C>G (p.Ala70=) c.59-6232C>G (n.59-6232C>G) n.428C>G c.96C>G (p.Ala32=) n.475C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.34886945G= | CA2387297164 | RUNX1 | c.249C= (p.Ala83=) c.168C= (p.Ala56=) c.213C= (p.Ala71=) c.210C= (p.Ala70=) c.59-6232C= (n.59-6232C=) n.428C= c.96C= (p.Ala32=) n.475C= | |
| 21 | g.34886945G>T | CA512318888 | RUNX1 | c.249C>A (p.Ala83=) c.168C>A (p.Ala56=) c.213C>A (p.Ala71=) c.210C>A (p.Ala70=) c.59-6232C>A (n.59-6232C>A) n.428C>A c.96C>A (p.Ala32=) n.475C>A | dbSNP |
| 21 | g.34886946G>A | CA410203806 | RUNX1 | c.248C>T (p.Ala83Val) c.167C>T (p.Ala56Val) c.212C>T (p.Ala71Val) c.209C>T (p.Ala70Val) c.59-6233C>T (n.59-6233C>T) n.427C>T c.95C>T (p.Ala32Val) n.474C>T | ClinVar dbSNP COSMIC |
| 21 | g.34886946G>C | CA410203808 | RUNX1 | c.248C>G (p.Ala83Gly) c.167C>G (p.Ala56Gly) c.212C>G (p.Ala71Gly) c.209C>G (p.Ala70Gly) c.59-6233C>G (n.59-6233C>G) n.427C>G c.95C>G (p.Ala32Gly) n.474C>G | |
| 21 | g.34886946G= | CA2387297165 | RUNX1 | c.248C= (p.Ala83=) c.167C= (p.Ala56=) c.212C= (p.Ala71=) c.209C= (p.Ala70=) c.59-6233C= (n.59-6233C=) n.427C= c.95C= (p.Ala32=) n.474C= | |
| 21 | g.34886946G>T | CA410203807 | RUNX1 | c.248C>A (p.Ala83Asp) c.167C>A (p.Ala56Asp) c.212C>A (p.Ala71Asp) c.209C>A (p.Ala70Asp) c.59-6233C>A (n.59-6233C>A) n.427C>A c.95C>A (p.Ala32Asp) n.474C>A | |
| 21 | g.34886947C>A | CA410203809 | RUNX1 | c.247G>T (p.Ala83Ser) c.166G>T (p.Ala56Ser) c.211G>T (p.Ala71Ser) c.208G>T (p.Ala70Ser) c.59-6234G>T (n.59-6234G>T) n.426G>T c.94G>T (p.Ala32Ser) n.473G>T | |
| 21 | g.34886947C>G | CA410203810 | RUNX1 | c.247G>C (p.Ala83Pro) c.166G>C (p.Ala56Pro) c.211G>C (p.Ala71Pro) c.208G>C (p.Ala70Pro) c.59-6234G>C (n.59-6234G>C) n.426G>C c.94G>C (p.Ala32Pro) n.473G>C | dbSNP |
| 21 | g.34886947C>T | CA410203811 | RUNX1 | c.247G>A (p.Ala83Thr) c.166G>A (p.Ala56Thr) c.211G>A (p.Ala71Thr) c.208G>A (p.Ala70Thr) c.59-6234G>A (n.59-6234G>A) n.426G>A c.94G>A (p.Ala32Thr) n.473G>A | dbSNP |
| 21 | g.34886948dup | CA2499225883 | RUNX1 | c.247dup (p.Ala83GlyfsTer?) c.166dup (p.Ala56GlyfsTer?) c.211dup (p.Ala71GlyfsTer?) c.208dup (p.Ala70GlyfsTer?) c.59-6234dup (n.59-6234dup) n.426dup c.94dup (p.Ala32GlyfsTer?) n.473dup | ClinVar dbSNP |
| 21 | g.34886948C>A | CA512318891 | RUNX1 | c.246G>T (p.Leu82=) c.165G>T (p.Leu55=) c.210G>T (p.Leu70=) c.207G>T (p.Leu69=) c.59-6235G>T (n.59-6235G>T) n.425G>T c.93G>T (p.Leu31=) n.472G>T | |
| 21 | g.34886948C= | CA2387297166 | RUNX1 | c.246G= (p.Leu82=) c.165G= (p.Leu55=) c.210G= (p.Leu70=) c.207G= (p.Leu69=) c.59-6235G= (n.59-6235G=) n.425G= c.93G= (p.Leu31=) n.472G= | |
| 21 | g.34886948C>G | CA512318892 | RUNX1 | c.246G>C (p.Leu82=) c.165G>C (p.Leu55=) c.210G>C (p.Leu70=) c.207G>C (p.Leu69=) c.59-6235G>C (n.59-6235G>C) n.425G>C c.93G>C (p.Leu31=) n.472G>C | |
| 21 | g.34886948C>T | CA512318890 | RUNX1 | c.246G>A (p.Leu82=) c.165G>A (p.Leu55=) c.210G>A (p.Leu70=) c.207G>A (p.Leu69=) c.59-6235G>A (n.59-6235G>A) n.425G>A c.93G>A (p.Leu31=) n.472G>A | dbSNP |
| 21 | g.34886949A>C | CA410203812 | RUNX1 | c.245T>G (p.Leu82Arg) c.164T>G (p.Leu55Arg) c.209T>G (p.Leu70Arg) c.206T>G (p.Leu69Arg) c.59-6236T>G (n.59-6236T>G) n.424T>G c.92T>G (p.Leu31Arg) n.471T>G | dbSNP |
| 21 | g.34886949A>G | CA410203813 | RUNX1 | c.245T>C (p.Leu82Pro) c.164T>C (p.Leu55Pro) c.209T>C (p.Leu70Pro) c.206T>C (p.Leu69Pro) c.59-6236T>C (n.59-6236T>C) n.424T>C c.92T>C (p.Leu31Pro) n.471T>C | dbSNP |
| 21 | g.34886949A>T | CA410203814 | RUNX1 | c.245T>A (p.Leu82Gln) c.164T>A (p.Leu55Gln) c.209T>A (p.Leu70Gln) c.206T>A (p.Leu69Gln) c.59-6236T>A (n.59-6236T>A) n.424T>A c.92T>A (p.Leu31Gln) n.471T>A | ClinVar dbSNP |
| 21 | g.34886949_34886950insAGCAA | CA645607450 | RUNX1 | c.245_246insTGCTT (p.Asp84TrpfsTer?) c.164_165insTGCTT (p.Asp57TrpfsTer?) c.209_210insTGCTT (p.Asp72TrpfsTer?) c.206_207insTGCTT (p.Asp71TrpfsTer?) c.59-6236_59-6235insTGCTT (n.59-6236_59-6235insTGCTT) n.424_425insTGCTT c.92_93insTGCTT (p.Asp33TrpfsTer?) n.471_472insTGCTT | COSMIC |
| 21 | g.34886949dup | CA2740097782 | RUNX1 | c.245dup (p.Ala83GlyfsTer?) c.164dup (p.Ala56GlyfsTer?) c.209dup (p.Ala71GlyfsTer?) c.206dup (p.Ala70GlyfsTer?) c.59-6236dup (n.59-6236dup) n.424dup c.92dup (p.Ala32GlyfsTer?) n.471dup | |
| 21 | g.34886950G>A | CA512318893 | RUNX1 | c.244C>T (p.Leu82=) c.163C>T (p.Leu55=) c.208C>T (p.Leu70=) c.205C>T (p.Leu69=) c.59-6237C>T (n.59-6237C>T) n.423C>T c.91C>T (p.Leu31=) n.470C>T | gnomAD v4 |
| 21 | g.34886950G>C | CA410203815 | RUNX1 | c.244C>G (p.Leu82Val) c.163C>G (p.Leu55Val) c.208C>G (p.Leu70Val) c.205C>G (p.Leu69Val) c.59-6237C>G (n.59-6237C>G) n.423C>G c.91C>G (p.Leu31Val) n.470C>G | |
| 21 | g.34886950G>T | CA410203816 | RUNX1 | c.244C>A (p.Leu82Met) c.163C>A (p.Leu55Met) c.208C>A (p.Leu70Met) c.205C>A (p.Leu69Met) c.59-6237C>A (n.59-6237C>A) n.423C>A c.91C>A (p.Leu31Met) n.470C>A | |
| 21 | g.34886950_34886956delinsGCACCTC | CA2387297167 | RUNX1 | c.238_244delinsGAGGTGC (p.Glu80=) c.157_163delinsGAGGTGC (p.Glu53=) c.202_208delinsGAGGTGC (p.Glu68=) c.199_205delinsGAGGTGC (p.Glu67=) c.59-6243_59-6237delinsGAGGTGC (n.59-6243_59-6237delinsGAGGTGC) n.417_423delinsGAGGTGC c.85_91delinsGAGGTGC (p.Glu29=) n.464_470delinsGAGGTGC | |
| 21 | g.34886951C>A | CA512318896 | RUNX1 | c.243G>T (p.Val81=) c.162G>T (p.Val54=) c.207G>T (p.Val69=) c.204G>T (p.Val68=) c.59-6238G>T (n.59-6238G>T) n.422G>T c.90G>T (p.Val30=) n.469G>T | |
| 21 | g.34886951C>G | CA512318895 | RUNX1 | c.243G>C (p.Val81=) c.162G>C (p.Val54=) c.207G>C (p.Val69=) c.204G>C (p.Val68=) c.59-6238G>C (n.59-6238G>C) n.422G>C c.90G>C (p.Val30=) n.469G>C | ClinVar |
| 21 | g.34886951C>T | CA512318894 | RUNX1 | c.243G>A (p.Val81=) c.162G>A (p.Val54=) c.207G>A (p.Val69=) c.204G>A (p.Val68=) c.59-6238G>A (n.59-6238G>A) n.422G>A c.90G>A (p.Val30=) n.469G>A | ClinVar dbSNP |
| 21 | g.34886952_34886953dup | CA645607451 | RUNX1 | c.242_243dup (p.Leu82CysfsTer?) c.161_162dup (p.Leu55CysfsTer?) c.206_207dup (p.Leu70CysfsTer?) c.203_204dup (p.Leu69CysfsTer?) c.59-6239_59-6238dup (n.59-6239_59-6238dup) n.421_422dup c.89_90dup (p.Leu31CysfsTer?) n.468_469dup | COSMIC |