UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177211484A>C | CA362321924 | NSD1 | c.2212A>C (p.Lys738Gln) n.612+7192A>C n.2668A>C c.2776A>C (p.Lys926Gln) n.2482A>C c.3085A>C (p.Lys1029Gln) n.3232A>C c.2278A>C (p.Lys760Gln) c.2665A>C (p.Lys889Gln) c.2029A>C (p.Lys677Gln) c.-911A>C (n.-911A>C) | gnomAD v4 |
| 5 | g.177211484A>G | CA362321926 | NSD1 | c.2212A>G (p.Lys738Glu) n.612+7192A>G n.2668A>G c.2776A>G (p.Lys926Glu) n.2482A>G c.3085A>G (p.Lys1029Glu) n.3232A>G c.2278A>G (p.Lys760Glu) c.2665A>G (p.Lys889Glu) c.2029A>G (p.Lys677Glu) c.-911A>G (n.-911A>G) | |
| 5 | g.177211484A>T | CA362321928 | NSD1 | c.2212A>T (p.Lys738Ter) n.612+7192A>T n.2668A>T c.2776A>T (p.Lys926Ter) n.2482A>T c.3085A>T (p.Lys1029Ter) n.3232A>T c.2278A>T (p.Lys760Ter) c.2665A>T (p.Lys889Ter) c.2029A>T (p.Lys677Ter) c.-911A>T (n.-911A>T) | |
| 5 | g.177211485A>C | CA362321930 | NSD1 | c.2213A>C (p.Lys738Thr) n.612+7193A>C n.2669A>C c.2777A>C (p.Lys926Thr) n.2483A>C c.3086A>C (p.Lys1029Thr) n.3233A>C c.2279A>C (p.Lys760Thr) c.2666A>C (p.Lys889Thr) c.2030A>C (p.Lys677Thr) c.-910A>C (n.-910A>C) | |
| 5 | g.177211485A>G | CA362321931 | NSD1 | c.2213A>G (p.Lys738Arg) n.612+7193A>G n.2669A>G c.2777A>G (p.Lys926Arg) n.2483A>G c.3086A>G (p.Lys1029Arg) n.3233A>G c.2279A>G (p.Lys760Arg) c.2666A>G (p.Lys889Arg) c.2030A>G (p.Lys677Arg) c.-910A>G (n.-910A>G) | |
| 5 | g.177211485A>T | CA362321933 | NSD1 | c.2213A>T (p.Lys738Ile) n.612+7193A>T n.2669A>T c.2777A>T (p.Lys926Ile) n.2483A>T c.3086A>T (p.Lys1029Ile) n.3233A>T c.2279A>T (p.Lys760Ile) c.2666A>T (p.Lys889Ile) c.2030A>T (p.Lys677Ile) c.-910A>T (n.-910A>T) | |
| 5 | g.177211486A= | CA1603477941 | NSD1 | c.2214A= (p.Lys738=) n.612+7194A= n.2670A= c.2778A= (p.Lys926=) n.2484A= c.3087A= (p.Lys1029=) n.3234A= c.2280A= (p.Lys760=) c.2667A= (p.Lys889=) c.2031A= (p.Lys677=) c.-909A= (n.-909A=) | |
| 5 | g.177211486A>C | CA362321936 | NSD1 | c.2214A>C (p.Lys738Asn) n.612+7194A>C n.2670A>C c.2778A>C (p.Lys926Asn) n.2484A>C c.3087A>C (p.Lys1029Asn) n.3234A>C c.2280A>C (p.Lys760Asn) c.2667A>C (p.Lys889Asn) c.2031A>C (p.Lys677Asn) c.-909A>C (n.-909A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177211486A>G | CA447960841 | NSD1 | c.2214A>G (p.Lys738=) n.612+7194A>G n.2670A>G c.2778A>G (p.Lys926=) n.2484A>G c.3087A>G (p.Lys1029=) n.3234A>G c.2280A>G (p.Lys760=) c.2667A>G (p.Lys889=) c.2031A>G (p.Lys677=) c.-909A>G (n.-909A>G) | |
| 5 | g.177211486A>T | CA362321938 | NSD1 | c.2214A>T (p.Lys738Asn) n.612+7194A>T n.2670A>T c.2778A>T (p.Lys926Asn) n.2484A>T c.3087A>T (p.Lys1029Asn) n.3234A>T c.2280A>T (p.Lys760Asn) c.2667A>T (p.Lys889Asn) c.2031A>T (p.Lys677Asn) c.-909A>T (n.-909A>T) | |
| 5 | g.177211487T>A | CA362321942 | NSD1 | c.2215T>A (p.Leu739Met) n.612+7195T>A n.2671T>A c.2779T>A (p.Leu927Met) n.2485T>A c.3088T>A (p.Leu1030Met) n.3235T>A c.2281T>A (p.Leu761Met) c.2668T>A (p.Leu890Met) c.2032T>A (p.Leu678Met) c.-908T>A (n.-908T>A) | |
| 5 | g.177211487T>C | CA223664 | NSD1 | c.2215T>C (p.Leu739=) n.612+7195T>C n.2671T>C c.2779T>C (p.Leu927=) n.2485T>C c.3088T>C (p.Leu1030=) n.3235T>C c.2281T>C (p.Leu761=) c.2668T>C (p.Leu890=) c.2032T>C (p.Leu678=) c.-908T>C (n.-908T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211487T>G | CA362321945 | NSD1 | c.2215T>G (p.Leu739Val) n.612+7195T>G n.2671T>G c.2779T>G (p.Leu927Val) n.2485T>G c.3088T>G (p.Leu1030Val) n.3235T>G c.2281T>G (p.Leu761Val) c.2668T>G (p.Leu890Val) c.2032T>G (p.Leu678Val) c.-908T>G (n.-908T>G) | |
| 5 | g.177211487T= | CA1603477945 | NSD1 | c.2215T= (p.Leu739=) n.612+7195T= n.2671T= c.2779T= (p.Leu927=) n.2485T= c.3088T= (p.Leu1030=) n.3235T= c.2281T= (p.Leu761=) c.2668T= (p.Leu890=) c.2032T= (p.Leu678=) c.-908T= (n.-908T=) | |
| 5 | g.177211488T>A | CA362321949 | NSD1 | c.2216T>A (p.Leu739Ter) n.612+7196T>A n.2672T>A c.2780T>A (p.Leu927Ter) n.2486T>A c.3089T>A (p.Leu1030Ter) n.3236T>A c.2282T>A (p.Leu761Ter) c.2669T>A (p.Leu890Ter) c.2033T>A (p.Leu678Ter) c.-907T>A (n.-907T>A) | |
| 5 | g.177211488T>C | CA172795 | NSD1 | c.2216T>C (p.Leu739Ser) n.612+7196T>C n.2672T>C c.2780T>C (p.Leu927Ser) n.2486T>C c.3089T>C (p.Leu1030Ser) n.3236T>C c.2282T>C (p.Leu761Ser) c.2669T>C (p.Leu890Ser) c.2033T>C (p.Leu678Ser) c.-907T>C (n.-907T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211488T>G | CA362321947 | NSD1 | c.2216T>G (p.Leu739Trp) n.612+7196T>G n.2672T>G c.2780T>G (p.Leu927Trp) n.2486T>G c.3089T>G (p.Leu1030Trp) n.3236T>G c.2282T>G (p.Leu761Trp) c.2669T>G (p.Leu890Trp) c.2033T>G (p.Leu678Trp) c.-907T>G (n.-907T>G) | |
| 5 | g.177211488T= | CA1603477950 | NSD1 | c.2216T= (p.Leu739=) n.612+7196T= n.2672T= c.2780T= (p.Leu927=) n.2486T= c.3089T= (p.Leu1030=) n.3236T= c.2282T= (p.Leu761=) c.2669T= (p.Leu890=) c.2033T= (p.Leu678=) c.-907T= (n.-907T=) | |
| 5 | g.177211488_177211489delinsCT | CA2580074127 | NSD1 | c.2216_2217delinsCT (p.Leu739Ser) n.612+7196_612+7197delinsCT n.2672_2673delinsCT c.2780_2781delinsCT (p.Leu927Ser) n.2486_2487delinsCT c.3089_3090delinsCT (p.Leu1030Ser) n.3236_3237delinsCT c.2282_2283delinsCT (p.Leu761Ser) c.2669_2670delinsCT (p.Leu890Ser) c.2033_2034delinsCT (p.Leu678Ser) c.-907_-906delinsCT (n.-907_-906delinsCT) | ClinVar |
| 5 | g.177211489G>A | CA132830985 | NSD1 | c.2217G>A (p.Leu739=) n.612+7197G>A n.2673G>A c.2781G>A (p.Leu927=) n.2487G>A c.3090G>A (p.Leu1030=) n.3237G>A c.2283G>A (p.Leu761=) c.2670G>A (p.Leu890=) c.2034G>A (p.Leu678=) c.-906G>A (n.-906G>A) | dbSNP |
| 5 | g.177211489G>C | CA362321955 | NSD1 | c.2217G>C (p.Leu739Phe) n.612+7197G>C n.2673G>C c.2781G>C (p.Leu927Phe) n.2487G>C c.3090G>C (p.Leu1030Phe) n.3237G>C c.2283G>C (p.Leu761Phe) c.2670G>C (p.Leu890Phe) c.2034G>C (p.Leu678Phe) c.-906G>C (n.-906G>C) | dbSNP |
| 5 | g.177211489G= | CA1603477953 | NSD1 | c.2217G= (p.Leu739=) n.612+7197G= n.2673G= c.2781G= (p.Leu927=) n.2487G= c.3090G= (p.Leu1030=) n.3237G= c.2283G= (p.Leu761=) c.2670G= (p.Leu890=) c.2034G= (p.Leu678=) c.-906G= (n.-906G=) | |
| 5 | g.177211489G>T | CA3577373 | NSD1 | c.2217G>T (p.Leu739Phe) n.612+7197G>T n.2673G>T c.2781G>T (p.Leu927Phe) n.2487G>T c.3090G>T (p.Leu1030Phe) n.3237G>T c.2283G>T (p.Leu761Phe) c.2670G>T (p.Leu890Phe) c.2034G>T (p.Leu678Phe) c.-906G>T (n.-906G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211490C>A | CA447960849 | NSD1 | c.2218C>A (p.Arg740=) n.612+7198C>A n.2674C>A c.2782C>A (p.Arg928=) n.2488C>A c.3091C>A (p.Arg1031=) n.3238C>A c.2284C>A (p.Arg762=) c.2671C>A (p.Arg891=) c.2035C>A (p.Arg679=) c.-905C>A (n.-905C>A) | |
| 5 | g.177211490C= | CA1603477969 | NSD1 | c.2218C= (p.Arg740=) n.612+7198C= n.2674C= c.2782C= (p.Arg928=) n.2488C= c.3091C= (p.Arg1031=) n.3238C= c.2284C= (p.Arg762=) c.2671C= (p.Arg891=) c.2035C= (p.Arg679=) c.-905C= (n.-905C=) | |
| 5 | g.177211490C>G | CA362321958 | NSD1 | c.2218C>G (p.Arg740Gly) n.612+7198C>G n.2674C>G c.2782C>G (p.Arg928Gly) n.2488C>G c.3091C>G (p.Arg1031Gly) n.3238C>G c.2284C>G (p.Arg762Gly) c.2671C>G (p.Arg891Gly) c.2035C>G (p.Arg679Gly) c.-905C>G (n.-905C>G) | dbSNP |
| 5 | g.177211490C>T | CA294842 | NSD1 | c.2218C>T (p.Arg740Ter) n.612+7198C>T n.2674C>T c.2782C>T (p.Arg928Ter) n.2488C>T c.3091C>T (p.Arg1031Ter) n.3238C>T c.2284C>T (p.Arg762Ter) c.2671C>T (p.Arg891Ter) c.2035C>T (p.Arg679Ter) c.-905C>T (n.-905C>T) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.177211491G>A | CA3577374 | NSD1 | c.2219G>A (p.Arg740Gln) n.612+7199G>A n.2675G>A c.2783G>A (p.Arg928Gln) n.2489G>A c.3092G>A (p.Arg1031Gln) n.3239G>A c.2285G>A (p.Arg762Gln) c.2672G>A (p.Arg891Gln) c.2036G>A (p.Arg679Gln) c.-904G>A (n.-904G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.177211491G>C | CA362321964 | NSD1 | c.2219G>C (p.Arg740Pro) n.612+7199G>C n.2675G>C c.2783G>C (p.Arg928Pro) n.2489G>C c.3092G>C (p.Arg1031Pro) n.3239G>C c.2285G>C (p.Arg762Pro) c.2672G>C (p.Arg891Pro) c.2036G>C (p.Arg679Pro) c.-904G>C (n.-904G>C) | gnomAD v4 |
| 5 | g.177211491G= | CA1603477971 | NSD1 | c.2219G= (p.Arg740=) n.612+7199G= n.2675G= c.2783G= (p.Arg928=) n.2489G= c.3092G= (p.Arg1031=) n.3239G= c.2285G= (p.Arg762=) c.2672G= (p.Arg891=) c.2036G= (p.Arg679=) c.-904G= (n.-904G=) | |
| 5 | g.177211491G>T | CA362321966 | NSD1 | c.2219G>T (p.Arg740Leu) n.612+7199G>T n.2675G>T c.2783G>T (p.Arg928Leu) n.2489G>T c.3092G>T (p.Arg1031Leu) n.3239G>T c.2285G>T (p.Arg762Leu) c.2672G>T (p.Arg891Leu) c.2036G>T (p.Arg679Leu) c.-904G>T (n.-904G>T) | |
| 5 | g.177211492A>C | CA447960852 | NSD1 | c.2220A>C (p.Arg740=) n.612+7200A>C n.2676A>C c.2784A>C (p.Arg928=) n.2490A>C c.3093A>C (p.Arg1031=) n.3240A>C c.2286A>C (p.Arg762=) c.2673A>C (p.Arg891=) c.2037A>C (p.Arg679=) c.-903A>C (n.-903A>C) | |
| 5 | g.177211492A>G | CA447960853 | NSD1 | c.2220A>G (p.Arg740=) n.612+7200A>G n.2676A>G c.2784A>G (p.Arg928=) n.2490A>G c.3093A>G (p.Arg1031=) n.3240A>G c.2286A>G (p.Arg762=) c.2673A>G (p.Arg891=) c.2037A>G (p.Arg679=) c.-903A>G (n.-903A>G) | |
| 5 | g.177211492A>T | CA447960854 | NSD1 | c.2220A>T (p.Arg740=) n.612+7200A>T n.2676A>T c.2784A>T (p.Arg928=) n.2490A>T c.3093A>T (p.Arg1031=) n.3240A>T c.2286A>T (p.Arg762=) c.2673A>T (p.Arg891=) c.2037A>T (p.Arg679=) c.-903A>T (n.-903A>T) | |
| 5 | g.177211493G>A | CA362321969 | NSD1 | c.2221G>A (p.Asp741Asn) n.612+7201G>A n.2677G>A c.2785G>A (p.Asp929Asn) n.2491G>A c.3094G>A (p.Asp1032Asn) n.3241G>A c.2287G>A (p.Asp763Asn) c.2674G>A (p.Asp892Asn) c.2038G>A (p.Asp680Asn) c.-902G>A (n.-902G>A) | dbSNP |
| 5 | g.177211493G>C | CA362321971 | NSD1 | c.2221G>C (p.Asp741His) n.612+7201G>C n.2677G>C c.2785G>C (p.Asp929His) n.2491G>C c.3094G>C (p.Asp1032His) n.3241G>C c.2287G>C (p.Asp763His) c.2674G>C (p.Asp892His) c.2038G>C (p.Asp680His) c.-902G>C (n.-902G>C) | |
| 5 | g.177211493G= | CA1603477975 | NSD1 | c.2221G= (p.Asp741=) n.612+7201G= n.2677G= c.2785G= (p.Asp929=) n.2491G= c.3094G= (p.Asp1032=) n.3241G= c.2287G= (p.Asp763=) c.2674G= (p.Asp892=) c.2038G= (p.Asp680=) c.-902G= (n.-902G=) | |
| 5 | g.177211493G>T | CA362321974 | NSD1 | c.2221G>T (p.Asp741Tyr) n.612+7201G>T n.2677G>T c.2785G>T (p.Asp929Tyr) n.2491G>T c.3094G>T (p.Asp1032Tyr) n.3241G>T c.2287G>T (p.Asp763Tyr) c.2674G>T (p.Asp892Tyr) c.2038G>T (p.Asp680Tyr) c.-902G>T (n.-902G>T) | |
| 5 | g.177211494A>C | CA362321981 | NSD1 | c.2222A>C (p.Asp741Ala) n.612+7202A>C n.2678A>C c.2786A>C (p.Asp929Ala) n.2492A>C c.3095A>C (p.Asp1032Ala) n.3242A>C c.2288A>C (p.Asp763Ala) c.2675A>C (p.Asp892Ala) c.2039A>C (p.Asp680Ala) c.-901A>C (n.-901A>C) | |
| 5 | g.177211494A>G | CA362321979 | NSD1 | c.2222A>G (p.Asp741Gly) n.612+7202A>G n.2678A>G c.2786A>G (p.Asp929Gly) n.2492A>G c.3095A>G (p.Asp1032Gly) n.3242A>G c.2288A>G (p.Asp763Gly) c.2675A>G (p.Asp892Gly) c.2039A>G (p.Asp680Gly) c.-901A>G (n.-901A>G) | dbSNP gnomAD v4 |
| 5 | g.177211494A>T | CA362321977 | NSD1 | c.2222A>T (p.Asp741Val) n.612+7202A>T n.2678A>T c.2786A>T (p.Asp929Val) n.2492A>T c.3095A>T (p.Asp1032Val) n.3242A>T c.2288A>T (p.Asp763Val) c.2675A>T (p.Asp892Val) c.2039A>T (p.Asp680Val) c.-901A>T (n.-901A>T) | dbSNP |
| 5 | g.177211495T>A | CA362321983 | NSD1 | c.2223T>A (p.Asp741Glu) n.612+7203T>A n.2679T>A c.2787T>A (p.Asp929Glu) n.2493T>A c.3096T>A (p.Asp1032Glu) n.3243T>A c.2289T>A (p.Asp763Glu) c.2676T>A (p.Asp892Glu) c.2040T>A (p.Asp680Glu) c.-900T>A (n.-900T>A) | |
| 5 | g.177211495T>C | CA447960859 | NSD1 | c.2223T>C (p.Asp741=) n.612+7203T>C n.2679T>C c.2787T>C (p.Asp929=) n.2493T>C c.3096T>C (p.Asp1032=) n.3243T>C c.2289T>C (p.Asp763=) c.2676T>C (p.Asp892=) c.2040T>C (p.Asp680=) c.-900T>C (n.-900T>C) | |
| 5 | g.177211495T>G | CA362321985 | NSD1 | c.2223T>G (p.Asp741Glu) n.612+7203T>G n.2679T>G c.2787T>G (p.Asp929Glu) n.2493T>G c.3096T>G (p.Asp1032Glu) n.3243T>G c.2289T>G (p.Asp763Glu) c.2676T>G (p.Asp892Glu) c.2040T>G (p.Asp680Glu) c.-900T>G (n.-900T>G) | |
| 5 | g.177211496G>A | CA362321987 | NSD1 | c.2224G>A (p.Ala742Thr) n.612+7204G>A n.2680G>A c.2788G>A (p.Ala930Thr) n.2494G>A c.3097G>A (p.Ala1033Thr) n.3244G>A c.2290G>A (p.Ala764Thr) c.2677G>A (p.Ala893Thr) c.2041G>A (p.Ala681Thr) c.-899G>A (n.-899G>A) | gnomAD v4 COSMIC COSMIC |
| 5 | g.177211496G>C | CA362321989 | NSD1 | c.2224G>C (p.Ala742Pro) n.612+7204G>C n.2680G>C c.2788G>C (p.Ala930Pro) n.2494G>C c.3097G>C (p.Ala1033Pro) n.3244G>C c.2290G>C (p.Ala764Pro) c.2677G>C (p.Ala893Pro) c.2041G>C (p.Ala681Pro) c.-899G>C (n.-899G>C) | |
| 5 | g.177211496G>T | CA362321991 | NSD1 | c.2224G>T (p.Ala742Ser) n.612+7204G>T n.2680G>T c.2788G>T (p.Ala930Ser) n.2494G>T c.3097G>T (p.Ala1033Ser) n.3244G>T c.2290G>T (p.Ala764Ser) c.2677G>T (p.Ala893Ser) c.2041G>T (p.Ala681Ser) c.-899G>T (n.-899G>T) | |
| 5 | g.177211497C>A | CA362321995 | NSD1 | c.2225C>A (p.Ala742Asp) n.612+7205C>A n.2681C>A c.2789C>A (p.Ala930Asp) n.2495C>A c.3098C>A (p.Ala1033Asp) n.3245C>A c.2291C>A (p.Ala764Asp) c.2678C>A (p.Ala893Asp) c.2042C>A (p.Ala681Asp) c.-898C>A (n.-898C>A) | |
| 5 | g.177211497C= | CA1603477983 | NSD1 | c.2225C= (p.Ala742=) n.612+7205C= n.2681C= c.2789C= (p.Ala930=) n.2495C= c.3098C= (p.Ala1033=) n.3245C= c.2291C= (p.Ala764=) c.2678C= (p.Ala893=) c.2042C= (p.Ala681=) c.-898C= (n.-898C=) | |
| 5 | g.177211497C>G | CA362321997 | NSD1 | c.2225C>G (p.Ala742Gly) n.612+7205C>G n.2681C>G c.2789C>G (p.Ala930Gly) n.2495C>G c.3098C>G (p.Ala1033Gly) n.3245C>G c.2291C>G (p.Ala764Gly) c.2678C>G (p.Ala893Gly) c.2042C>G (p.Ala681Gly) c.-898C>G (n.-898C>G) | gnomAD v4 |