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.177211584_177211585del | CA294845 | NSD1 | c.2312_2313del (p.Val771AspfsTer3) n.612+7292_612+7293del n.2768_2769del c.2876_2877del (p.Val959AspfsTer3) n.2582_2583del c.3185_3186del (p.Val1062AspfsTer3) n.3332_3333del c.2378_2379del (p.Val793AspfsTer3) c.2765_2766del (p.Val922AspfsTer3) c.2129_2130del (p.Val710AspfsTer3) c.-811_-810del (n.-811_-810del) | ClinVar dbSNP |
| 5 | g.177211584T>A | CA362322621 | NSD1 | c.2312T>A (p.Val771Glu) n.612+7292T>A n.2768T>A c.2876T>A (p.Val959Glu) n.2582T>A c.3185T>A (p.Val1062Glu) n.3332T>A c.2378T>A (p.Val793Glu) c.2765T>A (p.Val922Glu) c.2129T>A (p.Val710Glu) c.-811T>A (n.-811T>A) | |
| 5 | g.177211584T>C | CA362322623 | NSD1 | c.2312T>C (p.Val771Ala) n.612+7292T>C n.2768T>C c.2876T>C (p.Val959Ala) n.2582T>C c.3185T>C (p.Val1062Ala) n.3332T>C c.2378T>C (p.Val793Ala) c.2765T>C (p.Val922Ala) c.2129T>C (p.Val710Ala) c.-811T>C (n.-811T>C) | |
| 5 | g.177211584T>G | CA362322626 | NSD1 | c.2312T>G (p.Val771Gly) n.612+7292T>G n.2768T>G c.2876T>G (p.Val959Gly) n.2582T>G c.3185T>G (p.Val1062Gly) n.3332T>G c.2378T>G (p.Val793Gly) c.2765T>G (p.Val922Gly) c.2129T>G (p.Val710Gly) c.-811T>G (n.-811T>G) | |
| 5 | g.177211585G>A | CA447960775 | NSD1 | c.2313G>A (p.Val771=) n.612+7293G>A n.2769G>A c.2877G>A (p.Val959=) n.2583G>A c.3186G>A (p.Val1062=) n.3333G>A c.2379G>A (p.Val793=) c.2766G>A (p.Val922=) c.2130G>A (p.Val710=) c.-810G>A (n.-810G>A) | |
| 5 | g.177211585G>C | CA447960772 | NSD1 | c.2313G>C (p.Val771=) n.612+7293G>C n.2769G>C c.2877G>C (p.Val959=) n.2583G>C c.3186G>C (p.Val1062=) n.3333G>C c.2379G>C (p.Val793=) c.2766G>C (p.Val922=) c.2130G>C (p.Val710=) c.-810G>C (n.-810G>C) | |
| 5 | g.177211585G>T | CA447960773 | NSD1 | c.2313G>T (p.Val771=) n.612+7293G>T n.2769G>T c.2877G>T (p.Val959=) n.2583G>T c.3186G>T (p.Val1062=) n.3333G>T c.2379G>T (p.Val793=) c.2766G>T (p.Val922=) c.2130G>T (p.Val710=) c.-810G>T (n.-810G>T) | dbSNP |
| 5 | g.177211586A= | CA1603478358 | NSD1 | c.2314A= (p.Thr772=) n.612+7294A= n.2770A= c.2878A= (p.Thr960=) n.2584A= c.3187A= (p.Thr1063=) n.3334A= c.2380A= (p.Thr794=) c.2767A= (p.Thr923=) c.2131A= (p.Thr711=) c.-809A= (n.-809A=) | |
| 5 | g.177211586A>C | CA362322632 | NSD1 | c.2314A>C (p.Thr772Pro) n.612+7294A>C n.2770A>C c.2878A>C (p.Thr960Pro) n.2584A>C c.3187A>C (p.Thr1063Pro) n.3334A>C c.2380A>C (p.Thr794Pro) c.2767A>C (p.Thr923Pro) c.2131A>C (p.Thr711Pro) c.-809A>C (n.-809A>C) | |
| 5 | g.177211586A>G | CA149196 | NSD1 | c.2314A>G (p.Thr772Ala) n.612+7294A>G n.2770A>G c.2878A>G (p.Thr960Ala) n.2584A>G c.3187A>G (p.Thr1063Ala) n.3334A>G c.2380A>G (p.Thr794Ala) c.2767A>G (p.Thr923Ala) c.2131A>G (p.Thr711Ala) c.-809A>G (n.-809A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177211586A>T | CA362322646 | NSD1 | c.2314A>T (p.Thr772Ser) n.612+7294A>T n.2770A>T c.2878A>T (p.Thr960Ser) n.2584A>T c.3187A>T (p.Thr1063Ser) n.3334A>T c.2380A>T (p.Thr794Ser) c.2767A>T (p.Thr923Ser) c.2131A>T (p.Thr711Ser) c.-809A>T (n.-809A>T) | |
| 5 | g.177211587C>A | CA362322652 | NSD1 | c.2315C>A (p.Thr772Asn) n.612+7295C>A n.2771C>A c.2879C>A (p.Thr960Asn) n.2585C>A c.3188C>A (p.Thr1063Asn) n.3335C>A c.2381C>A (p.Thr794Asn) c.2768C>A (p.Thr923Asn) c.2132C>A (p.Thr711Asn) c.-808C>A (n.-808C>A) | |
| 5 | g.177211587C>G | CA362322661 | NSD1 | c.2315C>G (p.Thr772Ser) n.612+7295C>G n.2771C>G c.2879C>G (p.Thr960Ser) n.2585C>G c.3188C>G (p.Thr1063Ser) n.3335C>G c.2381C>G (p.Thr794Ser) c.2768C>G (p.Thr923Ser) c.2132C>G (p.Thr711Ser) c.-808C>G (n.-808C>G) | dbSNP |
| 5 | g.177211587C>T | CA362322655 | NSD1 | c.2315C>T (p.Thr772Ile) n.612+7295C>T n.2771C>T c.2879C>T (p.Thr960Ile) n.2585C>T c.3188C>T (p.Thr1063Ile) n.3335C>T c.2381C>T (p.Thr794Ile) c.2768C>T (p.Thr923Ile) c.2132C>T (p.Thr711Ile) c.-808C>T (n.-808C>T) | gnomAD v4 |
| 5 | g.177211588del | CA2695202829 | NSD1 | c.2316del (p.Asp774MetfsTer14) n.612+7296del n.2772del c.2880del (p.Asp962MetfsTer14) n.2586del c.3189del (p.Asp1065MetfsTer14) n.3336del c.2382del (p.Asp796MetfsTer14) c.2769del (p.Asp925MetfsTer14) c.2133del (p.Asp713MetfsTer14) c.-807del (n.-807del) | |
| 5 | g.177211588T>A | CA447960790 | NSD1 | c.2316T>A (p.Thr772=) n.612+7296T>A n.2772T>A c.2880T>A (p.Thr960=) n.2586T>A c.3189T>A (p.Thr1063=) n.3336T>A c.2382T>A (p.Thr794=) c.2769T>A (p.Thr923=) c.2133T>A (p.Thr711=) c.-807T>A (n.-807T>A) | |
| 5 | g.177211588T>C | CA447960789 | NSD1 | c.2316T>C (p.Thr772=) n.612+7296T>C n.2772T>C c.2880T>C (p.Thr960=) n.2586T>C c.3189T>C (p.Thr1063=) n.3336T>C c.2382T>C (p.Thr794=) c.2769T>C (p.Thr923=) c.2133T>C (p.Thr711=) c.-807T>C (n.-807T>C) | dbSNP gnomAD v4 |
| 5 | g.177211588T>G | CA447960788 | NSD1 | c.2316T>G (p.Thr772=) n.612+7296T>G n.2772T>G c.2880T>G (p.Thr960=) n.2586T>G c.3189T>G (p.Thr1063=) n.3336T>G c.2382T>G (p.Thr794=) c.2769T>G (p.Thr923=) c.2133T>G (p.Thr711=) c.-807T>G (n.-807T>G) | |
| 5 | g.177211588T= | CA1603478367 | NSD1 | c.2316T= (p.Thr772=) n.612+7296T= n.2772T= c.2880T= (p.Thr960=) n.2586T= c.3189T= (p.Thr1063=) n.3336T= c.2382T= (p.Thr794=) c.2769T= (p.Thr923=) c.2133T= (p.Thr711=) c.-807T= (n.-807T=) | |
| 5 | g.177211589C>A | CA362322666 | NSD1 | c.2317C>A (p.Leu773Ile) n.612+7297C>A n.2773C>A c.2881C>A (p.Leu961Ile) n.2587C>A c.3190C>A (p.Leu1064Ile) n.3337C>A c.2383C>A (p.Leu795Ile) c.2770C>A (p.Leu924Ile) c.2134C>A (p.Leu712Ile) c.-806C>A (n.-806C>A) | dbSNP |
| 5 | g.177211589C>G | CA362322669 | NSD1 | c.2317C>G (p.Leu773Val) n.612+7297C>G n.2773C>G c.2881C>G (p.Leu961Val) n.2587C>G c.3190C>G (p.Leu1064Val) n.3337C>G c.2383C>G (p.Leu795Val) c.2770C>G (p.Leu924Val) c.2134C>G (p.Leu712Val) c.-806C>G (n.-806C>G) | |
| 5 | g.177211589C>T | CA362322670 | NSD1 | c.2317C>T (p.Leu773Phe) n.612+7297C>T n.2773C>T c.2881C>T (p.Leu961Phe) n.2587C>T c.3190C>T (p.Leu1064Phe) n.3337C>T c.2383C>T (p.Leu795Phe) c.2770C>T (p.Leu924Phe) c.2134C>T (p.Leu712Phe) c.-806C>T (n.-806C>T) | |
| 5 | g.177211590T>A | CA3577394 | NSD1 | c.2318T>A (p.Leu773His) n.612+7298T>A n.2774T>A c.2882T>A (p.Leu961His) n.2588T>A c.3191T>A (p.Leu1064His) n.3338T>A c.2384T>A (p.Leu795His) c.2771T>A (p.Leu924His) c.2135T>A (p.Leu712His) c.-805T>A (n.-805T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177211590T>C | CA362322671 | NSD1 | c.2318T>C (p.Leu773Pro) n.612+7298T>C n.2774T>C c.2882T>C (p.Leu961Pro) n.2588T>C c.3191T>C (p.Leu1064Pro) n.3338T>C c.2384T>C (p.Leu795Pro) c.2771T>C (p.Leu924Pro) c.2135T>C (p.Leu712Pro) c.-805T>C (n.-805T>C) | |
| 5 | g.177211590T>G | CA362322672 | NSD1 | c.2318T>G (p.Leu773Arg) n.612+7298T>G n.2774T>G c.2882T>G (p.Leu961Arg) n.2588T>G c.3191T>G (p.Leu1064Arg) n.3338T>G c.2384T>G (p.Leu795Arg) c.2771T>G (p.Leu924Arg) c.2135T>G (p.Leu712Arg) c.-805T>G (n.-805T>G) | |
| 5 | g.177211590T= | CA1603478374 | NSD1 | c.2318T= (p.Leu773=) n.612+7298T= n.2774T= c.2882T= (p.Leu961=) n.2588T= c.3191T= (p.Leu1064=) n.3338T= c.2384T= (p.Leu795=) c.2771T= (p.Leu924=) c.2135T= (p.Leu712=) c.-805T= (n.-805T=) | |
| 5 | g.177211591T>A | CA447960805 | NSD1 | c.2319T>A (p.Leu773=) n.612+7299T>A n.2775T>A c.2883T>A (p.Leu961=) n.2589T>A c.3192T>A (p.Leu1064=) n.3339T>A c.2385T>A (p.Leu795=) c.2772T>A (p.Leu924=) c.2136T>A (p.Leu712=) c.-804T>A (n.-804T>A) | |
| 5 | g.177211591T>C | CA447960806 | NSD1 | c.2319T>C (p.Leu773=) n.612+7299T>C n.2775T>C c.2883T>C (p.Leu961=) n.2589T>C c.3192T>C (p.Leu1064=) n.3339T>C c.2385T>C (p.Leu795=) c.2772T>C (p.Leu924=) c.2136T>C (p.Leu712=) c.-804T>C (n.-804T>C) | ClinVar gnomAD v4 |
| 5 | g.177211591T>G | CA447960807 | NSD1 | c.2319T>G (p.Leu773=) n.612+7299T>G n.2775T>G c.2883T>G (p.Leu961=) n.2589T>G c.3192T>G (p.Leu1064=) n.3339T>G c.2385T>G (p.Leu795=) c.2772T>G (p.Leu924=) c.2136T>G (p.Leu712=) c.-804T>G (n.-804T>G) | |
| 5 | g.177211592G>A | CA362322677 | NSD1 | c.2320G>A (p.Asp774Asn) n.612+7300G>A n.2776G>A c.2884G>A (p.Asp962Asn) n.2590G>A c.3193G>A (p.Asp1065Asn) n.3340G>A c.2386G>A (p.Asp796Asn) c.2773G>A (p.Asp925Asn) c.2137G>A (p.Asp713Asn) c.-803G>A (n.-803G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177211592G>C | CA362322681 | NSD1 | c.2320G>C (p.Asp774His) n.612+7300G>C n.2776G>C c.2884G>C (p.Asp962His) n.2590G>C c.3193G>C (p.Asp1065His) n.3340G>C c.2386G>C (p.Asp796His) c.2773G>C (p.Asp925His) c.2137G>C (p.Asp713His) c.-803G>C (n.-803G>C) | dbSNP gnomAD v4 |
| 5 | g.177211592G= | CA1603478380 | NSD1 | c.2320G= (p.Asp774=) n.612+7300G= n.2776G= c.2884G= (p.Asp962=) n.2590G= c.3193G= (p.Asp1065=) n.3340G= c.2386G= (p.Asp796=) c.2773G= (p.Asp925=) c.2137G= (p.Asp713=) c.-803G= (n.-803G=) | |
| 5 | g.177211592G>T | CA362322684 | NSD1 | c.2320G>T (p.Asp774Tyr) n.612+7300G>T n.2776G>T c.2884G>T (p.Asp962Tyr) n.2590G>T c.3193G>T (p.Asp1065Tyr) n.3340G>T c.2386G>T (p.Asp796Tyr) c.2773G>T (p.Asp925Tyr) c.2137G>T (p.Asp713Tyr) c.-803G>T (n.-803G>T) | ClinVar dbSNP |
| 5 | g.177211593A>C | CA362322690 | NSD1 | c.2321A>C (p.Asp774Ala) n.612+7301A>C n.2777A>C c.2885A>C (p.Asp962Ala) n.2591A>C c.3194A>C (p.Asp1065Ala) n.3341A>C c.2387A>C (p.Asp796Ala) c.2774A>C (p.Asp925Ala) c.2138A>C (p.Asp713Ala) c.-802A>C (n.-802A>C) | |
| 5 | g.177211593A>G | CA362322692 | NSD1 | c.2321A>G (p.Asp774Gly) n.612+7301A>G n.2777A>G c.2885A>G (p.Asp962Gly) n.2591A>G c.3194A>G (p.Asp1065Gly) n.3341A>G c.2387A>G (p.Asp796Gly) c.2774A>G (p.Asp925Gly) c.2138A>G (p.Asp713Gly) c.-802A>G (n.-802A>G) | |
| 5 | g.177211593A>T | CA362322698 | NSD1 | c.2321A>T (p.Asp774Val) n.612+7301A>T n.2777A>T c.2885A>T (p.Asp962Val) n.2591A>T c.3194A>T (p.Asp1065Val) n.3341A>T c.2387A>T (p.Asp796Val) c.2774A>T (p.Asp925Val) c.2138A>T (p.Asp713Val) c.-802A>T (n.-802A>T) | |
| 5 | g.177211594T>A | CA362322708 | NSD1 | c.2322T>A (p.Asp774Glu) n.612+7302T>A n.2778T>A c.2886T>A (p.Asp962Glu) n.2592T>A c.3195T>A (p.Asp1065Glu) n.3342T>A c.2388T>A (p.Asp796Glu) c.2775T>A (p.Asp925Glu) c.2139T>A (p.Asp713Glu) c.-801T>A (n.-801T>A) | |
| 5 | g.177211594T>C | CA447960817 | NSD1 | c.2322T>C (p.Asp774=) n.612+7302T>C n.2778T>C c.2886T>C (p.Asp962=) n.2592T>C c.3195T>C (p.Asp1065=) n.3342T>C c.2388T>C (p.Asp796=) c.2775T>C (p.Asp925=) c.2139T>C (p.Asp713=) c.-801T>C (n.-801T>C) | |
| 5 | g.177211594T>G | CA362322702 | NSD1 | c.2322T>G (p.Asp774Glu) n.612+7302T>G n.2778T>G c.2886T>G (p.Asp962Glu) n.2592T>G c.3195T>G (p.Asp1065Glu) n.3342T>G c.2388T>G (p.Asp796Glu) c.2775T>G (p.Asp925Glu) c.2139T>G (p.Asp713Glu) c.-801T>G (n.-801T>G) | |
| 5 | g.177211595G>A | CA362322712 | NSD1 | c.2323G>A (p.Ala775Thr) n.612+7303G>A n.2779G>A c.2887G>A (p.Ala963Thr) n.2593G>A c.3196G>A (p.Ala1066Thr) n.3343G>A c.2389G>A (p.Ala797Thr) c.2776G>A (p.Ala926Thr) c.2140G>A (p.Ala714Thr) c.-800G>A (n.-800G>A) | |
| 5 | g.177211595G>C | CA362322714 | NSD1 | c.2323G>C (p.Ala775Pro) n.612+7303G>C n.2779G>C c.2887G>C (p.Ala963Pro) n.2593G>C c.3196G>C (p.Ala1066Pro) n.3343G>C c.2389G>C (p.Ala797Pro) c.2776G>C (p.Ala926Pro) c.2140G>C (p.Ala714Pro) c.-800G>C (n.-800G>C) | |
| 5 | g.177211595G>T | CA362322716 | NSD1 | c.2323G>T (p.Ala775Ser) n.612+7303G>T n.2779G>T c.2887G>T (p.Ala963Ser) n.2593G>T c.3196G>T (p.Ala1066Ser) n.3343G>T c.2389G>T (p.Ala797Ser) c.2776G>T (p.Ala926Ser) c.2140G>T (p.Ala714Ser) c.-800G>T (n.-800G>T) | |
| 5 | g.177211596del | CA2695202830 | NSD1 | c.2324del (p.Ala775ValfsTer13) n.612+7304del n.2780del c.2888del (p.Ala963ValfsTer13) n.2594del c.3197del (p.Ala1066ValfsTer13) n.3344del c.2390del (p.Ala797ValfsTer13) c.2777del (p.Ala926ValfsTer13) c.2141del (p.Ala714ValfsTer13) c.-799del (n.-799del) | |
| 5 | g.177211596C>A | CA362322720 | NSD1 | c.2324C>A (p.Ala775Asp) n.612+7304C>A n.2780C>A c.2888C>A (p.Ala963Asp) n.2594C>A c.3197C>A (p.Ala1066Asp) n.3344C>A c.2390C>A (p.Ala797Asp) c.2777C>A (p.Ala926Asp) c.2141C>A (p.Ala714Asp) c.-799C>A (n.-799C>A) | dbSNP |
| 5 | g.177211596C= | CA1603478386 | NSD1 | c.2324C= (p.Ala775=) n.612+7304C= n.2780C= c.2888C= (p.Ala963=) n.2594C= c.3197C= (p.Ala1066=) n.3344C= c.2390C= (p.Ala797=) c.2777C= (p.Ala926=) c.2141C= (p.Ala714=) c.-799C= (n.-799C=) | |
| 5 | g.177211596C>G | CA362322728 | NSD1 | c.2324C>G (p.Ala775Gly) n.612+7304C>G n.2780C>G c.2888C>G (p.Ala963Gly) n.2594C>G c.3197C>G (p.Ala1066Gly) n.3344C>G c.2390C>G (p.Ala797Gly) c.2777C>G (p.Ala926Gly) c.2141C>G (p.Ala714Gly) c.-799C>G (n.-799C>G) | ClinVar gnomAD v4 |
| 5 | g.177211596C>T | CA362322732 | NSD1 | c.2324C>T (p.Ala775Val) n.612+7304C>T n.2780C>T c.2888C>T (p.Ala963Val) n.2594C>T c.3197C>T (p.Ala1066Val) n.3344C>T c.2390C>T (p.Ala797Val) c.2777C>T (p.Ala926Val) c.2141C>T (p.Ala714Val) c.-799C>T (n.-799C>T) | dbSNP |
| 5 | g.177211597T>A | CA447960824 | NSD1 | c.2325T>A (p.Ala775=) n.612+7305T>A n.2781T>A c.2889T>A (p.Ala963=) n.2595T>A c.3198T>A (p.Ala1066=) n.3345T>A c.2391T>A (p.Ala797=) c.2778T>A (p.Ala926=) c.2142T>A (p.Ala714=) c.-798T>A (n.-798T>A) | |
| 5 | g.177211597T>C | CA447960825 | NSD1 | c.2325T>C (p.Ala775=) n.612+7305T>C n.2781T>C c.2889T>C (p.Ala963=) n.2595T>C c.3198T>C (p.Ala1066=) n.3345T>C c.2391T>C (p.Ala797=) c.2778T>C (p.Ala926=) c.2142T>C (p.Ala714=) c.-798T>C (n.-798T>C) | |
| 5 | g.177211597T>G | CA447960827 | NSD1 | c.2325T>G (p.Ala775=) n.612+7305T>G n.2781T>G c.2889T>G (p.Ala963=) n.2595T>G c.3198T>G (p.Ala1066=) n.3345T>G c.2391T>G (p.Ala797=) c.2778T>G (p.Ala926=) c.2142T>G (p.Ala714=) c.-798T>G (n.-798T>G) | dbSNP |