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 |
|---|---|---|---|---|---|
| 1 | g.99884344T>A | CA341321055 | AGL | c.2439T>A (p.Asn813Lys) n.2650T>A c.2391T>A (p.Asn797Lys) c.2388T>A (p.Asn796Lys) c.699T>A (p.Asn233Lys) | |
| 1 | g.99884344T>C | CA419314272 | AGL | c.2439T>C (p.Asn813=) n.2650T>C c.2391T>C (p.Asn797=) c.2388T>C (p.Asn796=) c.699T>C (p.Asn233=) | ClinVar dbSNP |
| 1 | g.99884344T>G | CA341321057 | AGL | c.2439T>G (p.Asn813Lys) n.2650T>G c.2391T>G (p.Asn797Lys) c.2388T>G (p.Asn796Lys) c.699T>G (p.Asn233Lys) | |
| 1 | g.99884345G>A | CA341321058 | AGL | c.2440G>A (p.Glu814Lys) n.2651G>A c.2392G>A (p.Glu798Lys) c.2389G>A (p.Glu797Lys) c.700G>A (p.Glu234Lys) | COSMIC COSMIC |
| 1 | g.99884345G>C | CA341321059 | AGL | c.2440G>C (p.Glu814Gln) n.2651G>C c.2392G>C (p.Glu798Gln) c.2389G>C (p.Glu797Gln) c.700G>C (p.Glu234Gln) | |
| 1 | g.99884345G>T | CA341321060 | AGL | c.2440G>T (p.Glu814Ter) n.2651G>T c.2392G>T (p.Glu798Ter) c.2389G>T (p.Glu797Ter) c.700G>T (p.Glu234Ter) | |
| 1 | g.99884346A= | CA1183930554 | AGL | c.2441A= (p.Glu814=) n.2652A= c.2393A= (p.Glu798=) c.2390A= (p.Glu797=) c.701A= (p.Glu234=) | |
| 1 | g.99884346A>C | CA341321061 | AGL | c.2441A>C (p.Glu814Ala) n.2652A>C c.2393A>C (p.Glu798Ala) c.2390A>C (p.Glu797Ala) c.701A>C (p.Glu234Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99884346A>G | CA341321062 | AGL | c.2441A>G (p.Glu814Gly) n.2652A>G c.2393A>G (p.Glu798Gly) c.2390A>G (p.Glu797Gly) c.701A>G (p.Glu234Gly) | dbSNP |
| 1 | g.99884346A>T | CA341321063 | AGL | c.2441A>T (p.Glu814Val) n.2652A>T c.2393A>T (p.Glu798Val) c.2390A>T (p.Glu797Val) c.701A>T (p.Glu234Val) | |
| 1 | g.99884347A>C | CA341321064 | AGL | c.2442A>C (p.Glu814Asp) n.2653A>C c.2394A>C (p.Glu798Asp) c.2391A>C (p.Glu797Asp) c.702A>C (p.Glu234Asp) | |
| 1 | g.99884347A>G | CA419314273 | AGL | c.2442A>G (p.Glu814=) n.2653A>G c.2394A>G (p.Glu798=) c.2391A>G (p.Glu797=) c.702A>G (p.Glu234=) | ClinVar dbSNP |
| 1 | g.99884347A>T | CA341321065 | AGL | c.2442A>T (p.Glu814Asp) n.2653A>T c.2394A>T (p.Glu798Asp) c.2391A>T (p.Glu797Asp) c.702A>T (p.Glu234Asp) | |
| 1 | g.99884348A>C | CA341321066 | AGL | c.2443A>C (p.Ser815Arg) n.2654A>C c.2395A>C (p.Ser799Arg) c.2392A>C (p.Ser798Arg) c.703A>C (p.Ser235Arg) | |
| 1 | g.99884348A>G | CA341321067 | AGL | c.2443A>G (p.Ser815Gly) n.2654A>G c.2395A>G (p.Ser799Gly) c.2392A>G (p.Ser798Gly) c.703A>G (p.Ser235Gly) | |
| 1 | g.99884348A>T | CA341321068 | AGL | c.2443A>T (p.Ser815Cys) n.2654A>T c.2395A>T (p.Ser799Cys) c.2392A>T (p.Ser798Cys) c.703A>T (p.Ser235Cys) | |
| 1 | g.99884349G>A | CA341321069 | AGL | c.2444G>A (p.Ser815Asn) n.2655G>A c.2396G>A (p.Ser799Asn) c.2393G>A (p.Ser798Asn) c.704G>A (p.Ser235Asn) | gnomAD v4 |
| 1 | g.99884349G>C | CA341321071 | AGL | c.2444G>C (p.Ser815Thr) n.2655G>C c.2396G>C (p.Ser799Thr) c.2393G>C (p.Ser798Thr) c.704G>C (p.Ser235Thr) | |
| 1 | g.99884349G>T | CA341321070 | AGL | c.2444G>T (p.Ser815Ile) n.2655G>T c.2396G>T (p.Ser799Ile) c.2393G>T (p.Ser798Ile) c.704G>T (p.Ser235Ile) | |
| 1 | g.99884350T>A | CA341321072 | AGL | c.2445T>A (p.Ser815Arg) n.2656T>A c.2397T>A (p.Ser799Arg) c.2394T>A (p.Ser798Arg) c.705T>A (p.Ser235Arg) | |
| 1 | g.99884350T>C | CA419314274 | AGL | c.2445T>C (p.Ser815=) n.2656T>C c.2397T>C (p.Ser799=) c.2394T>C (p.Ser798=) c.705T>C (p.Ser235=) | |
| 1 | g.99884350T>G | CA341321073 | AGL | c.2445T>G (p.Ser815Arg) n.2656T>G c.2397T>G (p.Ser799Arg) c.2394T>G (p.Ser798Arg) c.705T>G (p.Ser235Arg) | |
| 1 | g.99884351A= | CA1183930555 | AGL | c.2446A= (p.Lys816=) n.2657A= c.2398A= (p.Lys800=) c.2395A= (p.Lys799=) c.706A= (p.Lys236=) | |
| 1 | g.99884351A>C | CA341321074 | AGL | c.2446A>C (p.Lys816Gln) n.2657A>C c.2398A>C (p.Lys800Gln) c.2395A>C (p.Lys799Gln) c.706A>C (p.Lys236Gln) | |
| 1 | g.99884351A>G | CA341321075 | AGL | c.2446A>G (p.Lys816Glu) n.2657A>G c.2398A>G (p.Lys800Glu) c.2395A>G (p.Lys799Glu) c.706A>G (p.Lys236Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99884351A>T | CA341321076 | AGL | c.2446A>T (p.Lys816Ter) n.2657A>T c.2398A>T (p.Lys800Ter) c.2395A>T (p.Lys799Ter) c.706A>T (p.Lys236Ter) | |
| 1 | g.99884352A>C | CA341321077 | AGL | c.2447A>C (p.Lys816Thr) n.2658A>C c.2399A>C (p.Lys800Thr) c.2396A>C (p.Lys799Thr) c.707A>C (p.Lys236Thr) | |
| 1 | g.99884352A>G | CA341321078 | AGL | c.2447A>G (p.Lys816Arg) n.2658A>G c.2399A>G (p.Lys800Arg) c.2396A>G (p.Lys799Arg) c.707A>G (p.Lys236Arg) | |
| 1 | g.99884352A>T | CA341321079 | AGL | c.2447A>T (p.Lys816Ile) n.2658A>T c.2399A>T (p.Lys800Ile) c.2396A>T (p.Lys799Ile) c.707A>T (p.Lys236Ile) | |
| 1 | g.99884353A>C | CA341321080 | AGL | c.2448A>C (p.Lys816Asn) n.2659A>C c.2400A>C (p.Lys800Asn) c.2397A>C (p.Lys799Asn) c.708A>C (p.Lys236Asn) | |
| 1 | g.99884353A>G | CA419314275 | AGL | c.2448A>G (p.Lys816=) n.2659A>G c.2400A>G (p.Lys800=) c.2397A>G (p.Lys799=) c.708A>G (p.Lys236=) | |
| 1 | g.99884353A>T | CA341321081 | AGL | c.2448A>T (p.Lys816Asn) n.2659A>T c.2400A>T (p.Lys800Asn) c.2397A>T (p.Lys799Asn) c.708A>T (p.Lys236Asn) | |
| 1 | g.99884353_99884354insCACCAAACACACCCAACAC | CA2744755773 | AGL | c.2448_2449insCACCAAACACACCCAACAC (p.Ile817HisfsTer9) n.2659_2660insCACCAAACACACCCAACAC c.2400_2401insCACCAAACACACCCAACAC (p.Ile801HisfsTer9) c.2397_2398insCACCAAACACACCCAACAC (p.Ile800HisfsTer9) c.708_709insCACCAAACACACCCAACAC (p.Ile237HisfsTer9) | |
| 1 | g.99884354A= | CA1183930556 | AGL | c.2449A= (p.Ile817=) n.2660A= c.2401A= (p.Ile801=) c.2398A= (p.Ile800=) c.709A= (p.Ile237=) | |
| 1 | g.99884354A>C | CA341321083 | AGL | c.2449A>C (p.Ile817Leu) n.2660A>C c.2401A>C (p.Ile801Leu) c.2398A>C (p.Ile800Leu) c.709A>C (p.Ile237Leu) | |
| 1 | g.99884354A>G | CA27519107 | AGL | c.2449A>G (p.Ile817Val) n.2660A>G c.2401A>G (p.Ile801Val) c.2398A>G (p.Ile800Val) c.709A>G (p.Ile237Val) | dbSNP gnomAD v4 |
| 1 | g.99884354A>T | CA341321082 | AGL | c.2449A>T (p.Ile817Phe) n.2660A>T c.2401A>T (p.Ile801Phe) c.2398A>T (p.Ile800Phe) c.709A>T (p.Ile237Phe) | gnomAD v4 |
| 1 | g.99884354_99884355del | CA2564821407 | AGL | c.2449_2450del (p.Ile817CysfsTer2) n.2660_2661del c.2401_2402del (p.Ile801CysfsTer2) c.2398_2399del (p.Ile800CysfsTer2) c.709_710del (p.Ile237CysfsTer2) | |
| 1 | g.99884355T>A | CA341321084 | AGL | c.2450T>A (p.Ile817Asn) n.2661T>A c.2402T>A (p.Ile801Asn) c.2399T>A (p.Ile800Asn) c.710T>A (p.Ile237Asn) | |
| 1 | g.99884355T>C | CA341321086 | AGL | c.2450T>C (p.Ile817Thr) n.2661T>C c.2402T>C (p.Ile801Thr) c.2399T>C (p.Ile800Thr) c.710T>C (p.Ile237Thr) | |
| 1 | g.99884355T>G | CA341321085 | AGL | c.2450T>G (p.Ile817Ser) n.2661T>G c.2402T>G (p.Ile801Ser) c.2399T>G (p.Ile800Ser) c.710T>G (p.Ile237Ser) | |
| 1 | g.99884356T>A | CA419314276 | AGL | c.2451T>A (p.Ile817=) n.2662T>A c.2403T>A (p.Ile801=) c.2400T>A (p.Ile800=) c.711T>A (p.Ile237=) | |
| 1 | g.99884356T>C | CA419314277 | AGL | c.2451T>C (p.Ile817=) n.2662T>C c.2403T>C (p.Ile801=) c.2400T>C (p.Ile800=) c.711T>C (p.Ile237=) | ClinVar |
| 1 | g.99884356T>G | CA341321087 | AGL | c.2451T>G (p.Ile817Met) n.2662T>G c.2403T>G (p.Ile801Met) c.2400T>G (p.Ile800Met) c.711T>G (p.Ile237Met) | |
| 1 | g.99884357G>A | CA341321088 | AGL | c.2452G>A (p.Val818Ile) n.2663G>A c.2404G>A (p.Val802Ile) c.2401G>A (p.Val801Ile) c.712G>A (p.Val238Ile) | |
| 1 | g.99884357G>C | CA341321089 | AGL | c.2452G>C (p.Val818Leu) n.2663G>C c.2404G>C (p.Val802Leu) c.2401G>C (p.Val801Leu) c.712G>C (p.Val238Leu) | |
| 1 | g.99884357G>T | CA341321090 | AGL | c.2452G>T (p.Val818Phe) n.2663G>T c.2404G>T (p.Val802Phe) c.2401G>T (p.Val801Phe) c.712G>T (p.Val238Phe) | |
| 1 | g.99884358T>A | CA341321091 | AGL | c.2453T>A (p.Val818Asp) n.2664T>A c.2405T>A (p.Val802Asp) c.2402T>A (p.Val801Asp) c.713T>A (p.Val238Asp) | |
| 1 | g.99884358T>C | CA341321092 | AGL | c.2453T>C (p.Val818Ala) n.2664T>C c.2405T>C (p.Val802Ala) c.2402T>C (p.Val801Ala) c.713T>C (p.Val238Ala) | |
| 1 | g.99884358T>G | CA341321093 | AGL | c.2453T>G (p.Val818Gly) n.2664T>G c.2405T>G (p.Val802Gly) c.2402T>G (p.Val801Gly) c.713T>G (p.Val238Gly) |