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.108620334_108620406delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC | CA2450695956 | COL4A5 | c.2585_2657delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg862=) n.2041_2113delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC c.2261_2333delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg754=) c.158_230delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg53=) c.2600_2672delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg867=) c.920_992delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg307=) | |
| X | g.108620338_108620373del | CA2695235217 | COL4A5 | c.2589_2624del (p.Ser864_Gly875del) n.2045_2080del c.2265_2300del (p.Ser756_Gly767del) c.162_197del (p.Ser55_Gly66del) c.2604_2639del (p.Ser869_Gly880del) c.924_959del (p.Ser309_Gly320del) | |
| X | g.108620338_108620409del | CA891843942 | COL4A5 | c.2589_2660del (p.Ser864_Gly887del) n.2045_2116del c.2265_2336del (p.Ser756_Gly779del) c.162_233del (p.Ser55_Gly78del) c.2604_2675del (p.Ser869_Gly892del) c.924_995del (p.Ser309_Gly332del) | |
| X | g.108620338_108620374delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA | CA2450695959 | COL4A5 | c.2589_2625delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly863=) n.2045_2081delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA c.2265_2301delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly755=) c.162_198delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly54=) c.2604_2640delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly868=) c.924_960delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly308=) | |
| X | g.108620339_108620374del | CA334048999 | COL4A5 | c.2590_2625del (p.Ser864_Gly875del) n.2046_2081del c.2266_2301del (p.Ser756_Gly767del) c.163_198del (p.Ser55_Gly66del) c.2605_2640del (p.Ser869_Gly880del) c.925_960del (p.Ser309_Gly320del) | dbSNP |
| X | g.108620341_108620359delinsTCCAGGGATCCCCGGAGCA | CA2450695961 | COL4A5 | c.2592_2610delinsTCCAGGGATCCCCGGAGCA (p.Ser864=) n.2048_2066delinsTCCAGGGATCCCCGGAGCA c.2268_2286delinsTCCAGGGATCCCCGGAGCA (p.Ser756=) c.165_183delinsTCCAGGGATCCCCGGAGCA (p.Ser55=) c.2607_2625delinsTCCAGGGATCCCCGGAGCA (p.Ser869=) c.927_945delinsTCCAGGGATCCCCGGAGCA (p.Ser309=) | |
| X | g.108620344_108620361del | CA258714 | COL4A5 | c.2595_2612del (p.Gly866_Pro871del) n.2051_2068del c.2271_2288del (p.Gly758_Pro763del) c.168_185del (p.Gly57_Pro62del) c.2610_2627del (p.Gly871_Pro876del) c.930_947del (p.Gly311_Pro316del) | dbSNP |
| X | g.108620344A= | CA2450695963 | COL4A5 | c.2595A= (p.Pro865=) n.2051A= c.2271A= (p.Pro757=) c.168A= (p.Pro56=) c.2610A= (p.Pro870=) c.930A= (p.Pro310=) | |
| X | g.108620344A>C | CA517924120 | COL4A5 | c.2595A>C (p.Pro865=) n.2051A>C c.2271A>C (p.Pro757=) c.168A>C (p.Pro56=) c.2610A>C (p.Pro870=) c.930A>C (p.Pro310=) | |
| X | g.108620344A>G | CA517924121 | COL4A5 | c.2595A>G (p.Pro865=) n.2051A>G c.2271A>G (p.Pro757=) c.168A>G (p.Pro56=) c.2610A>G (p.Pro870=) c.930A>G (p.Pro310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108620344A>T | CA517924122 | COL4A5 | c.2595A>T (p.Pro865=) n.2051A>T c.2271A>T (p.Pro757=) c.168A>T (p.Pro56=) c.2610A>T (p.Pro870=) c.930A>T (p.Pro310=) | |
| X | g.108620345G>A | CA413851429 | COL4A5 | c.2596G>A (p.Gly866Arg) n.2052G>A c.2272G>A (p.Gly758Arg) c.169G>A (p.Gly57Arg) c.2611G>A (p.Gly871Arg) c.931G>A (p.Gly311Arg) | |
| X | g.108620345G>C | CA413851430 | COL4A5 | c.2596G>C (p.Gly866Arg) n.2052G>C c.2272G>C (p.Gly758Arg) c.169G>C (p.Gly57Arg) c.2611G>C (p.Gly871Arg) c.931G>C (p.Gly311Arg) | |
| X | g.108620345G>T | CA413851432 | COL4A5 | c.2596G>T (p.Gly866Trp) n.2052G>T c.2272G>T (p.Gly758Trp) c.169G>T (p.Gly57Trp) c.2611G>T (p.Gly871Trp) c.931G>T (p.Gly311Trp) | COSMIC |
| X | g.108620346G>A | CA258717 | COL4A5 | c.2597G>A (p.Gly866Glu) n.2053G>A c.2273G>A (p.Gly758Glu) c.170G>A (p.Gly57Glu) c.2612G>A (p.Gly871Glu) c.932G>A (p.Gly311Glu) | ClinVar dbSNP |
| X | g.108620346G>C | CA413851438 | COL4A5 | c.2597G>C (p.Gly866Ala) n.2053G>C c.2273G>C (p.Gly758Ala) c.170G>C (p.Gly57Ala) c.2612G>C (p.Gly871Ala) c.932G>C (p.Gly311Ala) | |
| X | g.108620346G= | CA2450695964 | COL4A5 | c.2597G= (p.Gly866=) n.2053G= c.2273G= (p.Gly758=) c.170G= (p.Gly57=) c.2612G= (p.Gly871=) c.932G= (p.Gly311=) | |
| X | g.108620346G>T | CA413851435 | COL4A5 | c.2597G>T (p.Gly866Val) n.2053G>T c.2273G>T (p.Gly758Val) c.170G>T (p.Gly57Val) c.2612G>T (p.Gly871Val) c.932G>T (p.Gly311Val) | COSMIC COSMIC |
| X | g.108620347G>A | CA517924127 | COL4A5 | c.2598G>A (p.Gly866=) n.2054G>A c.2274G>A (p.Gly758=) c.171G>A (p.Gly57=) c.2613G>A (p.Gly871=) c.933G>A (p.Gly311=) | |
| X | g.108620347G>C | CA10488950 | COL4A5 | c.2598G>C (p.Gly866=) n.2054G>C c.2274G>C (p.Gly758=) c.171G>C (p.Gly57=) c.2613G>C (p.Gly871=) c.933G>C (p.Gly311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108620347G= | CA2450695965 | COL4A5 | c.2598G= (p.Gly866=) n.2054G= c.2274G= (p.Gly758=) c.171G= (p.Gly57=) c.2613G= (p.Gly871=) c.933G= (p.Gly311=) | |
| X | g.108620347G>T | CA517924128 | COL4A5 | c.2598G>T (p.Gly866=) n.2054G>T c.2274G>T (p.Gly758=) c.171G>T (p.Gly57=) c.2613G>T (p.Gly871=) c.933G>T (p.Gly311=) | |
| X | g.108620348A>C | CA413851439 | COL4A5 | c.2599A>C (p.Ile867Leu) n.2055A>C c.2275A>C (p.Ile759Leu) c.172A>C (p.Ile58Leu) c.2614A>C (p.Ile872Leu) c.934A>C (p.Ile312Leu) | |
| X | g.108620348A>G | CA413851440 | COL4A5 | c.2599A>G (p.Ile867Val) n.2055A>G c.2275A>G (p.Ile759Val) c.172A>G (p.Ile58Val) c.2614A>G (p.Ile872Val) c.934A>G (p.Ile312Val) | |
| X | g.108620348A>T | CA413851442 | COL4A5 | c.2599A>T (p.Ile867Phe) n.2055A>T c.2275A>T (p.Ile759Phe) c.172A>T (p.Ile58Phe) c.2614A>T (p.Ile872Phe) c.934A>T (p.Ile312Phe) | |
| X | g.108620349T>A | CA413851443 | COL4A5 | c.2600T>A (p.Ile867Asn) n.2056T>A c.2276T>A (p.Ile759Asn) c.173T>A (p.Ile58Asn) c.2615T>A (p.Ile872Asn) c.935T>A (p.Ile312Asn) | |
| X | g.108620349T>C | CA10488951 | COL4A5 | c.2600T>C (p.Ile867Thr) n.2056T>C c.2276T>C (p.Ile759Thr) c.173T>C (p.Ile58Thr) c.2615T>C (p.Ile872Thr) c.935T>C (p.Ile312Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108620349T>G | CA413851446 | COL4A5 | c.2600T>G (p.Ile867Ser) n.2056T>G c.2276T>G (p.Ile759Ser) c.173T>G (p.Ile58Ser) c.2615T>G (p.Ile872Ser) c.935T>G (p.Ile312Ser) | |
| X | g.108620349T= | CA2450695966 | COL4A5 | c.2600T= (p.Ile867=) n.2056T= c.2276T= (p.Ile759=) c.173T= (p.Ile58=) c.2615T= (p.Ile872=) c.935T= (p.Ile312=) | |
| X | g.108620349dup | CA2739290539 | COL4A5 | c.2600dup (p.Gly869ArgfsTer29) n.2056dup c.2276dup (p.Gly761ArgfsTer29) c.173dup (p.Gly60ArgfsTer29) c.2615dup (p.Gly874ArgfsTer29) c.935dup (p.Gly314ArgfsTer29) | |
| X | g.108620349_108620350delinsTC | CA2450695967 | COL4A5 | c.2600_2601delinsTC (p.Ile867=) n.2056_2057delinsTC c.2276_2277delinsTC (p.Ile759=) c.173_174delinsTC (p.Ile58=) c.2615_2616delinsTC (p.Ile872=) c.935_936delinsTC (p.Ile312=) | |
| X | g.108620350C>A | CA517924135 | COL4A5 | c.2601C>A (p.Ile867=) n.2057C>A c.2277C>A (p.Ile759=) c.174C>A (p.Ile58=) c.2616C>A (p.Ile872=) c.936C>A (p.Ile312=) | |
| X | g.108620350C>G | CA413851448 | COL4A5 | c.2601C>G (p.Ile867Met) n.2057C>G c.2277C>G (p.Ile759Met) c.174C>G (p.Ile58Met) c.2616C>G (p.Ile872Met) c.936C>G (p.Ile312Met) | gnomAD v4 |
| X | g.108620350C>T | CA517924136 | COL4A5 | c.2601C>T (p.Ile867=) n.2057C>T c.2277C>T (p.Ile759=) c.174C>T (p.Ile58=) c.2616C>T (p.Ile872=) c.936C>T (p.Ile312=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108620353del | CA658656866 | COL4A5 | c.2604del (p.Gly869GlufsTer6) n.2060del c.2280del (p.Gly761GlufsTer6) c.177del (p.Gly60GlufsTer6) c.2619del (p.Gly874GlufsTer6) c.939del (p.Gly314GlufsTer6) | ClinVar dbSNP |
| X | g.108620351C>A | CA413851451 | COL4A5 | c.2602C>A (p.Pro868Thr) n.2058C>A c.2278C>A (p.Pro760Thr) c.175C>A (p.Pro59Thr) c.2617C>A (p.Pro873Thr) c.937C>A (p.Pro313Thr) | |
| X | g.108620351C>G | CA413851452 | COL4A5 | c.2602C>G (p.Pro868Ala) n.2058C>G c.2278C>G (p.Pro760Ala) c.175C>G (p.Pro59Ala) c.2617C>G (p.Pro873Ala) c.937C>G (p.Pro313Ala) | dbSNP |
| X | g.108620351C>T | CA413851455 | COL4A5 | c.2602C>T (p.Pro868Ser) n.2058C>T c.2278C>T (p.Pro760Ser) c.175C>T (p.Pro59Ser) c.2617C>T (p.Pro873Ser) c.937C>T (p.Pro313Ser) | |
| X | g.108620352C>A | CA413851457 | COL4A5 | c.2603C>A (p.Pro868His) n.2059C>A c.2279C>A (p.Pro760His) c.176C>A (p.Pro59His) c.2618C>A (p.Pro873His) c.938C>A (p.Pro313His) | |
| X | g.108620352C>G | CA413851458 | COL4A5 | c.2603C>G (p.Pro868Arg) n.2059C>G c.2279C>G (p.Pro760Arg) c.176C>G (p.Pro59Arg) c.2618C>G (p.Pro873Arg) c.938C>G (p.Pro313Arg) | |
| X | g.108620352C>T | CA413851459 | COL4A5 | c.2603C>T (p.Pro868Leu) n.2059C>T c.2279C>T (p.Pro760Leu) c.176C>T (p.Pro59Leu) c.2618C>T (p.Pro873Leu) c.938C>T (p.Pro313Leu) | |
| X | g.108620353C>A | CA517924144 | COL4A5 | c.2604C>A (p.Pro868=) n.2060C>A c.2280C>A (p.Pro760=) c.177C>A (p.Pro59=) c.2619C>A (p.Pro873=) c.939C>A (p.Pro313=) | |
| X | g.108620353C= | CA2450695968 | COL4A5 | c.2604C= (p.Pro868=) n.2060C= c.2280C= (p.Pro760=) c.177C= (p.Pro59=) c.2619C= (p.Pro873=) c.939C= (p.Pro313=) | |
| X | g.108620353C>G | CA334049054 | COL4A5 | c.2604C>G (p.Pro868=) n.2060C>G c.2280C>G (p.Pro760=) c.177C>G (p.Pro59=) c.2619C>G (p.Pro873=) c.939C>G (p.Pro313=) | ClinVar dbSNP gnomAD v4 |
| X | g.108620353C>T | CA334049071 | COL4A5 | c.2604C>T (p.Pro868=) n.2060C>T c.2280C>T (p.Pro760=) c.177C>T (p.Pro59=) c.2619C>T (p.Pro873=) c.939C>T (p.Pro313=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108620354G>A | CA258720 | COL4A5 | c.2605G>A (p.Gly869Arg) n.2061G>A c.2281G>A (p.Gly761Arg) c.178G>A (p.Gly60Arg) c.2620G>A (p.Gly874Arg) c.940G>A (p.Gly314Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108620354G>C | CA413851463 | COL4A5 | c.2605G>C (p.Gly869Arg) n.2061G>C c.2281G>C (p.Gly761Arg) c.178G>C (p.Gly60Arg) c.2620G>C (p.Gly874Arg) c.940G>C (p.Gly314Arg) | |
| X | g.108620354G= | CA2450695969 | COL4A5 | c.2605G= (p.Gly869=) n.2061G= c.2281G= (p.Gly761=) c.178G= (p.Gly60=) c.2620G= (p.Gly874=) c.940G= (p.Gly314=) | |
| X | g.108620354G>T | CA413851461 | COL4A5 | c.2605G>T (p.Gly869Ter) n.2061G>T c.2281G>T (p.Gly761Ter) c.178G>T (p.Gly60Ter) c.2620G>T (p.Gly874Ter) c.940G>T (p.Gly314Ter) | |
| X | g.108620355_108620357dup | CA2695235218 | COL4A5 | c.2606_2608dup (p.Gly869_Ala870insGly) n.2062_2064dup c.2282_2284dup (p.Gly761_Ala762insGly) c.179_181dup (p.Gly60_Ala61insGly) c.2621_2623dup (p.Gly874_Ala875insGly) c.941_943dup (p.Gly314_Ala315insGly) |