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.34876207_34881076del | CA1139533046 | RUNX1 | c.352-363_508+4350del c.271-363_427+4350del c.316-363_472+4350del c.59-363_*98+4350del c.313-363_469+4350del n.531-363_687+4350del c.199-363_355+4350del n.578-363_734+4350del | |
| 21 | g.34880553_34880609dup | CA658824416 | RUNX1 | c.457_508+5dup c.376_427+5dup c.421_472+5dup c.*47_*98+5dup c.418_469+5dup n.636_687+5dup c.304_355+5dup n.683_734+5dup | ClinVar dbSNP |
| 21 | g.34880598G>A | CA410202550 | RUNX1 | c.467C>T (p.Ala156Val) c.386C>T (p.Ala129Val) c.431C>T (p.Ala144Val) c.*57C>T (n.*57C>T) c.428C>T (p.Ala143Val) n.646C>T c.314C>T (p.Ala105Val) n.693C>T | dbSNP |
| 21 | g.34880598G>C | CA410202551 | RUNX1 | c.467C>G (p.Ala156Gly) c.386C>G (p.Ala129Gly) c.431C>G (p.Ala144Gly) c.*57C>G (n.*57C>G) c.428C>G (p.Ala143Gly) n.646C>G c.314C>G (p.Ala105Gly) n.693C>G | dbSNP |
| 21 | g.34880598G= | CA2387294327 | RUNX1 | c.467C= (p.Ala156=) c.386C= (p.Ala129=) c.431C= (p.Ala144=) c.*57C= (n.*57C=) c.428C= (p.Ala143=) n.646C= c.314C= (p.Ala105=) n.693C= | |
| 21 | g.34880598G>T | CA248628 | RUNX1 | c.467C>A (p.Ala156Glu) c.386C>A (p.Ala129Glu) c.431C>A (p.Ala144Glu) c.*57C>A (n.*57C>A) c.428C>A (p.Ala143Glu) n.646C>A c.314C>A (p.Ala105Glu) n.693C>A | ClinVar dbSNP |
| 21 | g.34880599C>A | CA410202552 | RUNX1 | c.466G>T (p.Ala156Ser) c.385G>T (p.Ala129Ser) c.430G>T (p.Ala144Ser) c.*56G>T (n.*56G>T) c.427G>T (p.Ala143Ser) n.645G>T c.313G>T (p.Ala105Ser) n.692G>T | dbSNP |
| 21 | g.34880599C>G | CA410202553 | RUNX1 | c.466G>C (p.Ala156Pro) c.385G>C (p.Ala129Pro) c.430G>C (p.Ala144Pro) c.*56G>C (n.*56G>C) c.427G>C (p.Ala143Pro) n.645G>C c.313G>C (p.Ala105Pro) n.692G>C | dbSNP |
| 21 | g.34880599C>T | CA410202554 | RUNX1 | c.466G>A (p.Ala156Thr) c.385G>A (p.Ala129Thr) c.430G>A (p.Ala144Thr) c.*56G>A (n.*56G>A) c.427G>A (p.Ala143Thr) n.645G>A c.313G>A (p.Ala105Thr) n.692G>A | ClinVar dbSNP |
| 21 | g.34880600A>C | CA512318700 | RUNX1 | c.465T>G (p.Val155=) c.384T>G (p.Val128=) c.429T>G (p.Val143=) c.*55T>G (n.*55T>G) c.426T>G (p.Val142=) n.644T>G c.312T>G (p.Val104=) n.691T>G | ClinVar dbSNP |
| 21 | g.34880600A>G | CA512318699 | RUNX1 | c.465T>C (p.Val155=) c.384T>C (p.Val128=) c.429T>C (p.Val143=) c.*55T>C (n.*55T>C) c.426T>C (p.Val142=) n.644T>C c.312T>C (p.Val104=) n.691T>C | |
| 21 | g.34880600A>T | CA512318698 | RUNX1 | c.465T>A (p.Val155=) c.384T>A (p.Val128=) c.429T>A (p.Val143=) c.*55T>A (n.*55T>A) c.426T>A (p.Val142=) n.644T>A c.312T>A (p.Val104=) n.691T>A | dbSNP |
| 21 | g.34880601A= | CA2387294328 | RUNX1 | c.464T= (p.Val155=) c.383T= (p.Val128=) c.428T= (p.Val143=) c.*54T= (n.*54T=) c.425T= (p.Val142=) n.643T= c.311T= (p.Val104=) n.690T= | |
| 21 | g.34880601A>C | CA410202555 | RUNX1 | c.464T>G (p.Val155Gly) c.383T>G (p.Val128Gly) c.428T>G (p.Val143Gly) c.*54T>G (n.*54T>G) c.425T>G (p.Val142Gly) n.643T>G c.311T>G (p.Val104Gly) n.690T>G | dbSNP |
| 21 | g.34880601A>G | CA10014507 | RUNX1 | c.464T>C (p.Val155Ala) c.383T>C (p.Val128Ala) c.428T>C (p.Val143Ala) c.*54T>C (n.*54T>C) c.425T>C (p.Val142Ala) n.643T>C c.311T>C (p.Val104Ala) n.690T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.34880601A>T | CA410202556 | RUNX1 | c.464T>A (p.Val155Asp) c.383T>A (p.Val128Asp) c.428T>A (p.Val143Asp) c.*54T>A (n.*54T>A) c.425T>A (p.Val142Asp) n.643T>A c.311T>A (p.Val104Asp) n.690T>A | dbSNP |
| 21 | g.34880655_34880656insATTCTACCTGGTTCTTCATGGCTGCGGTAGCATTTCTCAGCTCAGCCGAGTAGTTTTCAT | CA645607353 | RUNX1 | c.464_465insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val155_Ala156insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) c.383_384insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val128_Ala129insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) c.428_429insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val143_Ala144insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) c.*54_*55insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (n.*54_*55insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT) c.425_426insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val142_Ala143insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) n.643_644insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT c.311_312insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val104_Ala105insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) n.690_691insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT | COSMIC |
| 21 | g.34880602C>A | CA410202558 | RUNX1 | c.463G>T (p.Val155Phe) c.382G>T (p.Val128Phe) c.427G>T (p.Val143Phe) c.*53G>T (n.*53G>T) c.424G>T (p.Val142Phe) n.642G>T c.310G>T (p.Val104Phe) n.689G>T | dbSNP |
| 21 | g.34880602C= | CA2387294329 | RUNX1 | c.463G= (p.Val155=) c.382G= (p.Val128=) c.427G= (p.Val143=) c.*53G= (n.*53G=) c.424G= (p.Val142=) n.642G= c.310G= (p.Val104=) n.689G= | |
| 21 | g.34880602C>G | CA10014508 | RUNX1 | c.463G>C (p.Val155Leu) c.382G>C (p.Val128Leu) c.427G>C (p.Val143Leu) c.*53G>C (n.*53G>C) c.424G>C (p.Val142Leu) n.642G>C c.310G>C (p.Val104Leu) n.689G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.34880602C>T | CA410202557 | RUNX1 | c.463G>A (p.Val155Ile) c.382G>A (p.Val128Ile) c.427G>A (p.Val143Ile) c.*53G>A (n.*53G>A) c.424G>A (p.Val142Ile) n.642G>A c.310G>A (p.Val104Ile) n.689G>A | ClinVar dbSNP |
| 21 | g.34880603C>A | CA410202559 | RUNX1 | c.462G>T (p.Gln154His) c.381G>T (p.Gln127His) c.426G>T (p.Gln142His) c.*52G>T (n.*52G>T) c.423G>T (p.Gln141His) n.641G>T c.309G>T (p.Gln103His) n.688G>T | |
| 21 | g.34880603C= | CA2387294330 | RUNX1 | c.462G= (p.Gln154=) c.381G= (p.Gln127=) c.426G= (p.Gln142=) c.*52G= (n.*52G=) c.423G= (p.Gln141=) n.641G= c.309G= (p.Gln103=) n.688G= | |
| 21 | g.34880603C>G | CA10014509 | RUNX1 | c.462G>C (p.Gln154His) c.381G>C (p.Gln127His) c.426G>C (p.Gln142His) c.*52G>C (n.*52G>C) c.423G>C (p.Gln141His) n.641G>C c.309G>C (p.Gln103His) n.688G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.34880603C>T | CA512318702 | RUNX1 | c.462G>A (p.Gln154=) c.381G>A (p.Gln127=) c.426G>A (p.Gln142=) c.*52G>A (n.*52G>A) c.423G>A (p.Gln141=) n.641G>A c.309G>A (p.Gln103=) n.688G>A | dbSNP gnomAD v4 |
| 21 | g.34880604T>A | CA410202560 | RUNX1 | c.461A>T (p.Gln154Leu) c.380A>T (p.Gln127Leu) c.425A>T (p.Gln142Leu) c.*51A>T (n.*51A>T) c.422A>T (p.Gln141Leu) n.640A>T c.308A>T (p.Gln103Leu) n.687A>T | |
| 21 | g.34880604T>C | CA10014510 | RUNX1 | c.461A>G (p.Gln154Arg) c.380A>G (p.Gln127Arg) c.425A>G (p.Gln142Arg) c.*51A>G (n.*51A>G) c.422A>G (p.Gln141Arg) n.640A>G c.308A>G (p.Gln103Arg) n.687A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.34880604T>G | CA410202561 | RUNX1 | c.461A>C (p.Gln154Pro) c.380A>C (p.Gln127Pro) c.425A>C (p.Gln142Pro) c.*51A>C (n.*51A>C) c.422A>C (p.Gln141Pro) n.640A>C c.308A>C (p.Gln103Pro) n.687A>C | |
| 21 | g.34880604T= | CA2387294331 | RUNX1 | c.461A= (p.Gln154=) c.380A= (p.Gln127=) c.425A= (p.Gln142=) c.*51A= (n.*51A=) c.422A= (p.Gln141=) n.640A= c.308A= (p.Gln103=) n.687A= | |
| 21 | g.34880605G>A | CA410202562 | RUNX1 | c.460C>T (p.Gln154Ter) c.379C>T (p.Gln127Ter) c.424C>T (p.Gln142Ter) c.*50C>T (n.*50C>T) c.421C>T (p.Gln141Ter) n.639C>T c.307C>T (p.Gln103Ter) n.686C>T | dbSNP COSMIC |
| 21 | g.34880605G>C | CA410202564 | RUNX1 | c.460C>G (p.Gln154Glu) c.379C>G (p.Gln127Glu) c.424C>G (p.Gln142Glu) c.*50C>G (n.*50C>G) c.421C>G (p.Gln141Glu) n.639C>G c.307C>G (p.Gln103Glu) n.686C>G | dbSNP |
| 21 | g.34880605G>T | CA410202563 | RUNX1 | c.460C>A (p.Gln154Lys) c.379C>A (p.Gln127Lys) c.424C>A (p.Gln142Lys) c.*50C>A (n.*50C>A) c.421C>A (p.Gln141Lys) n.639C>A c.307C>A (p.Gln103Lys) n.686C>A | dbSNP |
| 21 | g.34880606dup | CA645607354 | RUNX1 | c.460dup (p.Gln154ProfsTer6) c.379dup (p.Gln127ProfsTer6) c.424dup (p.Gln142ProfsTer6) c.*50dup (n.*50dup) c.421dup (p.Gln141ProfsTer6) n.639dup c.307dup (p.Gln103ProfsTer6) n.686dup | COSMIC |
| 21 | g.34880606del | CA913189261 | RUNX1 | c.460del (p.Gln154ArgfsTer22) c.379del (p.Gln127ArgfsTer22) c.424del (p.Gln142ArgfsTer22) c.*50del (n.*50del) c.421del (p.Gln141ArgfsTer22) n.639del c.307del (p.Gln103ArgfsTer22) n.686del | |
| 21 | g.34880606G>A | CA512318704 | RUNX1 | c.459C>T (p.Asn153=) c.378C>T (p.Asn126=) c.423C>T (p.Asn141=) c.420C>T (p.Asn140=) c.*49C>T (n.*49C>T) n.638C>T c.306C>T (p.Asn102=) n.685C>T | dbSNP |
| 21 | g.34880606G>C | CA410202565 | RUNX1 | c.459C>G (p.Asn153Lys) c.378C>G (p.Asn126Lys) c.423C>G (p.Asn141Lys) c.420C>G (p.Asn140Lys) c.*49C>G (n.*49C>G) n.638C>G c.306C>G (p.Asn102Lys) n.685C>G | dbSNP |
| 21 | g.34880606G>T | CA410202566 | RUNX1 | c.459C>A (p.Asn153Lys) c.378C>A (p.Asn126Lys) c.423C>A (p.Asn141Lys) c.420C>A (p.Asn140Lys) c.*49C>A (n.*49C>A) n.638C>A c.306C>A (p.Asn102Lys) n.685C>A | dbSNP |
| 21 | g.34880607T>A | CA410202567 | RUNX1 | c.458A>T (p.Asn153Ile) c.377A>T (p.Asn126Ile) c.422A>T (p.Asn141Ile) c.419A>T (p.Asn140Ile) c.*48A>T (n.*48A>T) n.637A>T c.305A>T (p.Asn102Ile) n.684A>T | |
| 21 | g.34880607T>C | CA320637867 | RUNX1 | c.458A>G (p.Asn153Ser) c.377A>G (p.Asn126Ser) c.422A>G (p.Asn141Ser) c.419A>G (p.Asn140Ser) c.*48A>G (n.*48A>G) n.637A>G c.305A>G (p.Asn102Ser) n.684A>G | dbSNP |
| 21 | g.34880607T>G | CA410202568 | RUNX1 | c.458A>C (p.Asn153Thr) c.377A>C (p.Asn126Thr) c.422A>C (p.Asn141Thr) c.419A>C (p.Asn140Thr) c.*48A>C (n.*48A>C) n.637A>C c.305A>C (p.Asn102Thr) n.684A>C | gnomAD v4 |
| 21 | g.34880607T= | CA2387294332 | RUNX1 | c.458A= (p.Asn153=) c.377A= (p.Asn126=) c.422A= (p.Asn141=) c.419A= (p.Asn140=) c.*48A= (n.*48A=) n.637A= c.305A= (p.Asn102=) n.684A= | |
| 21 | g.34880608dup | CA1139655015 | RUNX1 | c.458dup (p.Asn153LysfsTer7) c.377dup (p.Asn126LysfsTer7) c.422dup (p.Asn141LysfsTer7) c.419dup (p.Asn140LysfsTer?) c.*48dup (n.*48dup) c.419dup (p.Asn140LysfsTer7) n.637dup c.305dup (p.Asn102LysfsTer7) n.684dup | |
| 21 | g.34880608del | CA2739267617 | RUNX1 | c.458del (p.Asn153ThrfsTer23) c.377del (p.Asn126ThrfsTer23) c.422del (p.Asn141ThrfsTer23) c.419del (p.Asn140=) c.*48del (n.*48del) c.419del (p.Asn140ThrfsTer23) n.637del c.305del (p.Asn102ThrfsTer23) n.684del | ClinVar |
| 21 | g.34880608_34880611dup | CA2695202354 | RUNX1 | c.455_458dup (p.Asn153LysfsTer8) c.374_377dup (p.Asn126LysfsTer8) c.419_422dup (p.Asn141LysfsTer8) c.416_419dup (p.Asn140LysfsTer?) c.*45_*48dup (n.*45_*48dup) c.416_419dup (p.Asn140LysfsTer8) n.634_637dup c.302_305dup (p.Asn102LysfsTer8) n.681_684dup | |
| 21 | g.34880608T>A | CA410202569 | RUNX1 | c.457A>T (p.Asn153Tyr) c.376A>T (p.Asn126Tyr) c.421A>T (p.Asn141Tyr) c.418A>T (p.Asn140Tyr) c.*47A>T (n.*47A>T) n.636A>T c.304A>T (p.Asn102Tyr) n.683A>T | |
| 21 | g.34880608T>C | CA410202570 | RUNX1 | c.457A>G (p.Asn153Asp) c.376A>G (p.Asn126Asp) c.421A>G (p.Asn141Asp) c.418A>G (p.Asn140Asp) c.*47A>G (n.*47A>G) n.636A>G c.304A>G (p.Asn102Asp) n.683A>G | dbSNP |
| 21 | g.34880608T>G | CA410202571 | RUNX1 | c.457A>C (p.Asn153His) c.376A>C (p.Asn126His) c.421A>C (p.Asn141His) c.418A>C (p.Asn140His) c.*47A>C (n.*47A>C) n.636A>C c.304A>C (p.Asn102His) n.683A>C | |
| 21 | g.34880609_34880610dup | CA891842369 | RUNX1 | c.456_457dup (p.Asn153ArgfsTer24) c.375_376dup (p.Asn126ArgfsTer24) c.420_421dup (p.Asn141ArgfsTer24) c.417_418dup (p.Asn140ArgfsTer?) c.*46_*47dup (n.*46_*47dup) c.417_418dup (p.Asn140ArgfsTer24) n.635_636dup c.303_304dup (p.Asn102ArgfsTer24) n.682_683dup | |
| 21 | g.34880609del | CA645607355 | RUNX1 | c.456del (p.Asn153ThrfsTer23) c.375del (p.Asn126ThrfsTer23) c.420del (p.Asn141ThrfsTer23) c.417del (p.Lys139=) c.*46del (n.*46del) c.417del (p.Asn140ThrfsTer23) n.635del c.303del (p.Asn102ThrfsTer23) n.682del | COSMIC COSMIC |
| 21 | g.34880609C>A | CA410202572 | RUNX1 | c.456G>T (p.Lys152Asn) c.375G>T (p.Lys125Asn) c.420G>T (p.Lys140Asn) c.417G>T (p.Lys139Asn) c.*46G>T (n.*46G>T) n.635G>T c.303G>T (p.Lys101Asn) n.682G>T | dbSNP |