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 |
|---|---|---|---|---|---|
| 12 | g.51914505_51914508delinsTCTC | CA2036269070 | ACVRL1 | c.422_425delinsTCTC (p.Phe141=) c.692_695delinsTCTC (p.Phe231=) c.170_173delinsTCTC (p.Phe57=) c.734_737delinsTCTC (p.Phe245=) c.-98_-95delinsTCTC (n.-98_-95delinsTCTC) | |
| 12 | g.51914509_51914511del | CA254369 | ACVRL1 | c.426_428del (p.Ser143del) c.696_698del (p.Ser233del) c.174_176del (p.Ser59del) c.738_740del (p.Ser247del) c.-94_-92del (n.-94_-92del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51914508C>A | CA384900094 | ACVRL1 | c.425C>A (p.Ser142Tyr) c.695C>A (p.Ser232Tyr) c.173C>A (p.Ser58Tyr) c.737C>A (p.Ser246Tyr) c.-95C>A (n.-95C>A) | |
| 12 | g.51914508C= | CA2036269078 | ACVRL1 | c.425C= (p.Ser142=) c.695C= (p.Ser232=) c.173C= (p.Ser58=) c.737C= (p.Ser246=) c.-95C= (n.-95C=) | |
| 12 | g.51914508C>G | CA384900095 | ACVRL1 | c.425C>G (p.Ser142Cys) c.695C>G (p.Ser232Cys) c.173C>G (p.Ser58Cys) c.737C>G (p.Ser246Cys) c.-95C>G (n.-95C>G) | |
| 12 | g.51914508C>T | CA384900096 | ACVRL1 | c.425C>T (p.Ser142Phe) c.695C>T (p.Ser232Phe) c.173C>T (p.Ser58Phe) c.737C>T (p.Ser246Phe) c.-95C>T (n.-95C>T) | dbSNP COSMIC COSMIC |
| 12 | g.51914509C>A | CA479807908 | ACVRL1 | c.426C>A (p.Ser142=) c.696C>A (p.Ser232=) c.174C>A (p.Ser58=) c.738C>A (p.Ser246=) c.-94C>A (n.-94C>A) | |
| 12 | g.51914509C= | CA2036269081 | ACVRL1 | c.426C= (p.Ser142=) c.696C= (p.Ser232=) c.174C= (p.Ser58=) c.738C= (p.Ser246=) c.-94C= (n.-94C=) | |
| 12 | g.51914509C>G | CA479807910 | ACVRL1 | c.426C>G (p.Ser142=) c.696C>G (p.Ser232=) c.174C>G (p.Ser58=) c.738C>G (p.Ser246=) c.-94C>G (n.-94C>G) | |
| 12 | g.51914509C>T | CA479807911 | ACVRL1 | c.426C>T (p.Ser142=) c.696C>T (p.Ser232=) c.174C>T (p.Ser58=) c.738C>T (p.Ser246=) c.-94C>T (n.-94C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51914510T>A | CA384900097 | ACVRL1 | c.427T>A (p.Ser143Thr) c.697T>A (p.Ser233Thr) c.175T>A (p.Ser59Thr) c.739T>A (p.Ser247Thr) c.-93T>A (n.-93T>A) | |
| 12 | g.51914510T>C | CA384900098 | ACVRL1 | c.427T>C (p.Ser143Pro) c.697T>C (p.Ser233Pro) c.175T>C (p.Ser59Pro) c.739T>C (p.Ser247Pro) c.-93T>C (n.-93T>C) | |
| 12 | g.51914510T>G | CA384900099 | ACVRL1 | c.427T>G (p.Ser143Ala) c.697T>G (p.Ser233Ala) c.175T>G (p.Ser59Ala) c.739T>G (p.Ser247Ala) c.-93T>G (n.-93T>G) | |
| 12 | g.51914511C>A | CA384900100 | ACVRL1 | c.428C>A (p.Ser143Ter) c.698C>A (p.Ser233Ter) c.176C>A (p.Ser59Ter) c.740C>A (p.Ser247Ter) c.-92C>A (n.-92C>A) | |
| 12 | g.51914511C= | CA2036269086 | ACVRL1 | c.428C= (p.Ser143=) c.698C= (p.Ser233=) c.176C= (p.Ser59=) c.740C= (p.Ser247=) c.-92C= (n.-92C=) | |
| 12 | g.51914511C>G | CA384900101 | ACVRL1 | c.428C>G (p.Ser143Trp) c.698C>G (p.Ser233Trp) c.176C>G (p.Ser59Trp) c.740C>G (p.Ser247Trp) c.-92C>G (n.-92C>G) | ClinVar dbSNP |
| 12 | g.51914511C>T | CA6572972 | ACVRL1 | c.428C>T (p.Ser143Leu) c.698C>T (p.Ser233Leu) c.176C>T (p.Ser59Leu) c.740C>T (p.Ser247Leu) c.-92C>T (n.-92C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.51914511_51914512dup | CA2573148781 | ACVRL1 | c.428_429dup (p.Asp145GlyfsTer24) c.698_699dup (p.Asp235GlyfsTer24) c.176_177dup (p.Asp61GlyfsTer24) c.428_429dup (p.Asp145GlyfsTer?) c.740_741dup (p.Asp249GlyfsTer24) c.-92_-91dup (n.-92_-91dup) | ClinVar dbSNP |
| 12 | g.51914512G>A | CA6572973 | ACVRL1 | c.429G>A (p.Ser143=) c.699G>A (p.Ser233=) c.177G>A (p.Ser59=) c.741G>A (p.Ser247=) c.-91G>A (n.-91G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914512G>C | CA479807925 | ACVRL1 | c.429G>C (p.Ser143=) c.699G>C (p.Ser233=) c.177G>C (p.Ser59=) c.741G>C (p.Ser247=) c.-91G>C (n.-91G>C) | |
| 12 | g.51914512G= | CA2036269089 | ACVRL1 | c.429G= (p.Ser143=) c.699G= (p.Ser233=) c.177G= (p.Ser59=) c.741G= (p.Ser247=) c.-91G= (n.-91G=) | |
| 12 | g.51914512G>T | CA479807927 | ACVRL1 | c.429G>T (p.Ser143=) c.699G>T (p.Ser233=) c.177G>T (p.Ser59=) c.741G>T (p.Ser247=) c.-91G>T (n.-91G>T) | gnomAD v4 |
| 12 | g.51914513A>C | CA479807931 | ACVRL1 | c.430A>C (p.Arg144=) c.700A>C (p.Arg234=) c.178A>C (p.Arg60=) c.742A>C (p.Arg248=) c.-90A>C (n.-90A>C) | |
| 12 | g.51914513A>G | CA384900102 | ACVRL1 | c.430A>G (p.Arg144Gly) c.700A>G (p.Arg234Gly) c.178A>G (p.Arg60Gly) c.742A>G (p.Arg248Gly) c.-90A>G (n.-90A>G) | |
| 12 | g.51914513A>T | CA384900103 | ACVRL1 | c.430A>T (p.Arg144Trp) c.700A>T (p.Arg234Trp) c.178A>T (p.Arg60Trp) c.742A>T (p.Arg248Trp) c.-90A>T (n.-90A>T) | |
| 12 | g.51914514G>A | CA384900104 | ACVRL1 | c.431G>A (p.Arg144Lys) c.701G>A (p.Arg234Lys) c.179G>A (p.Arg60Lys) c.743G>A (p.Arg248Lys) c.-89G>A (n.-89G>A) | |
| 12 | g.51914514G>C | CA384900106 | ACVRL1 | c.431G>C (p.Arg144Thr) c.701G>C (p.Arg234Thr) c.179G>C (p.Arg60Thr) c.743G>C (p.Arg248Thr) c.-89G>C (n.-89G>C) | gnomAD v4 |
| 12 | g.51914514G>T | CA384900105 | ACVRL1 | c.431G>T (p.Arg144Met) c.701G>T (p.Arg234Met) c.179G>T (p.Arg60Met) c.743G>T (p.Arg248Met) c.-89G>T (n.-89G>T) | |
| 12 | g.51914516del | CA2580086471 | ACVRL1 | c.433del (p.Asp145MetfsTer23) c.703del (p.Asp235MetfsTer23) c.181del (p.Asp61MetfsTer23) c.433del (p.Asp145MetfsTer?) c.745del (p.Asp249MetfsTer23) c.-87del (n.-87del) | ClinVar |
| 12 | g.51914515G>A | CA479807939 | ACVRL1 | c.432G>A (p.Arg144=) c.702G>A (p.Arg234=) c.180G>A (p.Arg60=) c.744G>A (p.Arg248=) c.-88G>A (n.-88G>A) | |
| 12 | g.51914515G>C | CA384900108 | ACVRL1 | c.432G>C (p.Arg144Ser) c.702G>C (p.Arg234Ser) c.180G>C (p.Arg60Ser) c.744G>C (p.Arg248Ser) c.-88G>C (n.-88G>C) | |
| 12 | g.51914515G>T | CA384900109 | ACVRL1 | c.432G>T (p.Arg144Ser) c.702G>T (p.Arg234Ser) c.180G>T (p.Arg60Ser) c.744G>T (p.Arg248Ser) c.-88G>T (n.-88G>T) | |
| 12 | g.51914516G>A | CA384900110 | ACVRL1 | c.433G>A (p.Asp145Asn) c.703G>A (p.Asp235Asn) c.181G>A (p.Asp61Asn) c.745G>A (p.Asp249Asn) c.-87G>A (n.-87G>A) | |
| 12 | g.51914516G>C | CA384900111 | ACVRL1 | c.433G>C (p.Asp145His) c.703G>C (p.Asp235His) c.181G>C (p.Asp61His) c.745G>C (p.Asp249His) c.-87G>C (n.-87G>C) | |
| 12 | g.51914516G>T | CA384900112 | ACVRL1 | c.433G>T (p.Asp145Tyr) c.703G>T (p.Asp235Tyr) c.181G>T (p.Asp61Tyr) c.745G>T (p.Asp249Tyr) c.-87G>T (n.-87G>T) | |
| 12 | g.51914517del | CA2695216736 | ACVRL1 | c.434del (p.Asp145ValfsTer23) c.704del (p.Asp235ValfsTer23) c.182del (p.Asp61ValfsTer23) c.434del (p.Asp145ValfsTer?) c.746del (p.Asp249ValfsTer23) c.-86del (n.-86del) | |
| 12 | g.51914517A>C | CA384900113 | ACVRL1 | c.434A>C (p.Asp145Ala) c.704A>C (p.Asp235Ala) c.182A>C (p.Asp61Ala) c.746A>C (p.Asp249Ala) c.-86A>C (n.-86A>C) | |
| 12 | g.51914517A>G | CA384900114 | ACVRL1 | c.434A>G (p.Asp145Gly) c.704A>G (p.Asp235Gly) c.182A>G (p.Asp61Gly) c.746A>G (p.Asp249Gly) c.-86A>G (n.-86A>G) | ClinVar |
| 12 | g.51914517A>T | CA384900115 | ACVRL1 | c.434A>T (p.Asp145Val) c.704A>T (p.Asp235Val) c.182A>T (p.Asp61Val) c.746A>T (p.Asp249Val) c.-86A>T (n.-86A>T) | |
| 12 | g.51914518T>A | CA384900116 | ACVRL1 | c.435T>A (p.Asp145Glu) c.705T>A (p.Asp235Glu) c.183T>A (p.Asp61Glu) c.747T>A (p.Asp249Glu) c.-85T>A (n.-85T>A) | |
| 12 | g.51914518T>C | CA236363417 | ACVRL1 | c.435T>C (p.Asp145=) c.705T>C (p.Asp235=) c.183T>C (p.Asp61=) c.747T>C (p.Asp249=) c.-85T>C (n.-85T>C) | dbSNP |
| 12 | g.51914518T>G | CA384900117 | ACVRL1 | c.435T>G (p.Asp145Glu) c.705T>G (p.Asp235Glu) c.183T>G (p.Asp61Glu) c.747T>G (p.Asp249Glu) c.-85T>G (n.-85T>G) | |
| 12 | g.51914518T= | CA2036269092 | ACVRL1 | c.435T= (p.Asp145=) c.705T= (p.Asp235=) c.183T= (p.Asp61=) c.747T= (p.Asp249=) c.-85T= (n.-85T=) | |
| 12 | g.51914519G>A | CA384900118 | ACVRL1 | c.436G>A (p.Glu146Lys) c.706G>A (p.Glu236Lys) c.184G>A (p.Glu62Lys) c.748G>A (p.Glu250Lys) c.-84G>A (n.-84G>A) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51914519G>C | CA384900119 | ACVRL1 | c.436G>C (p.Glu146Gln) c.706G>C (p.Glu236Gln) c.184G>C (p.Glu62Gln) c.748G>C (p.Glu250Gln) c.-84G>C (n.-84G>C) | |
| 12 | g.51914519G= | CA2036269097 | ACVRL1 | c.436G= (p.Glu146=) c.706G= (p.Glu236=) c.184G= (p.Glu62=) c.748G= (p.Glu250=) c.-84G= (n.-84G=) | |
| 12 | g.51914519G>T | CA384900120 | ACVRL1 | c.436G>T (p.Glu146Ter) c.706G>T (p.Glu236Ter) c.184G>T (p.Glu62Ter) c.748G>T (p.Glu250Ter) c.-84G>T (n.-84G>T) | |
| 12 | g.51914520A>C | CA384900121 | ACVRL1 | c.437A>C (p.Glu146Ala) c.707A>C (p.Glu236Ala) c.185A>C (p.Glu62Ala) c.749A>C (p.Glu250Ala) c.-83A>C (n.-83A>C) | |
| 12 | g.51914520A>G | CA384900122 | ACVRL1 | c.437A>G (p.Glu146Gly) c.707A>G (p.Glu236Gly) c.185A>G (p.Glu62Gly) c.749A>G (p.Glu250Gly) c.-83A>G (n.-83A>G) | |
| 12 | g.51914520A>T | CA384900123 | ACVRL1 | c.437A>T (p.Glu146Val) c.707A>T (p.Glu236Val) c.185A>T (p.Glu62Val) c.749A>T (p.Glu250Val) c.-83A>T (n.-83A>T) |