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 |
|---|---|---|---|---|---|
| 17 | g.46032148G>A | CA500371986 | KANSL1 | c.2989C>T (p.Leu997=) c.2986C>T (p.Leu996=) c.2797C>T (p.Leu933=) c.646C>T (p.Leu216=) n.406C>T c.2857C>T (p.Leu953=) n.7206C>T n.419C>T n.961C>T c.2887C>T (p.Leu963=) c.2800C>T (p.Leu934=) c.1759C>T (p.Leu587=) | gnomAD v4 |
| 17 | g.46032148G>C | CA399986690 | KANSL1 | c.2989C>G (p.Leu997Val) c.2986C>G (p.Leu996Val) c.2797C>G (p.Leu933Val) c.646C>G (p.Leu216Val) n.406C>G c.2857C>G (p.Leu953Val) n.7206C>G n.419C>G n.961C>G c.2887C>G (p.Leu963Val) c.2800C>G (p.Leu934Val) c.1759C>G (p.Leu587Val) | gnomAD v4 |
| 17 | g.46032148G>T | CA399986688 | KANSL1 | c.2989C>A (p.Leu997Met) c.2986C>A (p.Leu996Met) c.2797C>A (p.Leu933Met) c.646C>A (p.Leu216Met) n.406C>A c.2857C>A (p.Leu953Met) n.7206C>A n.419C>A n.961C>A c.2887C>A (p.Leu963Met) c.2800C>A (p.Leu934Met) c.1759C>A (p.Leu587Met) | |
| 17 | g.46032149T>A | CA399986694 | KANSL1 | c.2988A>T (p.Glu996Asp) c.2985A>T (p.Glu995Asp) c.2796A>T (p.Glu932Asp) c.645A>T (p.Glu215Asp) n.405A>T c.2856A>T (p.Glu952Asp) n.7205A>T n.418A>T n.960A>T c.2886A>T (p.Glu962Asp) c.2799A>T (p.Glu933Asp) c.1758A>T (p.Glu586Asp) | |
| 17 | g.46032149T>C | CA500371987 | KANSL1 | c.2988A>G (p.Glu996=) c.2985A>G (p.Glu995=) c.2796A>G (p.Glu932=) c.645A>G (p.Glu215=) n.405A>G c.2856A>G (p.Glu952=) n.7205A>G n.418A>G n.960A>G c.2886A>G (p.Glu962=) c.2799A>G (p.Glu933=) c.1758A>G (p.Glu586=) | |
| 17 | g.46032149T>G | CA399986697 | KANSL1 | c.2988A>C (p.Glu996Asp) c.2985A>C (p.Glu995Asp) c.2796A>C (p.Glu932Asp) c.645A>C (p.Glu215Asp) n.405A>C c.2856A>C (p.Glu952Asp) n.7205A>C n.418A>C n.960A>C c.2886A>C (p.Glu962Asp) c.2799A>C (p.Glu933Asp) c.1758A>C (p.Glu586Asp) | |
| 17 | g.46032150T>A | CA399986701 | KANSL1 | c.2987A>T (p.Glu996Val) c.2984A>T (p.Glu995Val) c.2795A>T (p.Glu932Val) c.644A>T (p.Glu215Val) n.404A>T c.2855A>T (p.Glu952Val) n.7204A>T n.417A>T n.959A>T c.2885A>T (p.Glu962Val) c.2798A>T (p.Glu933Val) c.1757A>T (p.Glu586Val) | |
| 17 | g.46032150T>C | CA399986702 | KANSL1 | c.2987A>G (p.Glu996Gly) c.2984A>G (p.Glu995Gly) c.2795A>G (p.Glu932Gly) c.644A>G (p.Glu215Gly) n.404A>G c.2855A>G (p.Glu952Gly) n.7204A>G n.417A>G n.959A>G c.2885A>G (p.Glu962Gly) c.2798A>G (p.Glu933Gly) c.1757A>G (p.Glu586Gly) | |
| 17 | g.46032150T>G | CA399986706 | KANSL1 | c.2987A>C (p.Glu996Ala) c.2984A>C (p.Glu995Ala) c.2795A>C (p.Glu932Ala) c.644A>C (p.Glu215Ala) n.404A>C c.2855A>C (p.Glu952Ala) n.7204A>C n.417A>C n.959A>C c.2885A>C (p.Glu962Ala) c.2798A>C (p.Glu933Ala) c.1757A>C (p.Glu586Ala) | |
| 17 | g.46032151C>A | CA399986709 | KANSL1 | c.2986G>T (p.Glu996Ter) c.2983G>T (p.Glu995Ter) c.2794G>T (p.Glu932Ter) c.643G>T (p.Glu215Ter) n.403G>T c.2854G>T (p.Glu952Ter) n.7203G>T n.416G>T n.958G>T c.2884G>T (p.Glu962Ter) c.2797G>T (p.Glu933Ter) c.1756G>T (p.Glu586Ter) | |
| 17 | g.46032151C>G | CA399986711 | KANSL1 | c.2986G>C (p.Glu996Gln) c.2983G>C (p.Glu995Gln) c.2794G>C (p.Glu932Gln) c.643G>C (p.Glu215Gln) n.403G>C c.2854G>C (p.Glu952Gln) n.7203G>C n.416G>C n.958G>C c.2884G>C (p.Glu962Gln) c.2797G>C (p.Glu933Gln) c.1756G>C (p.Glu586Gln) | |
| 17 | g.46032151C>T | CA399986713 | KANSL1 | c.2986G>A (p.Glu996Lys) c.2983G>A (p.Glu995Lys) c.2794G>A (p.Glu932Lys) c.643G>A (p.Glu215Lys) n.403G>A c.2854G>A (p.Glu952Lys) n.7203G>A n.416G>A n.958G>A c.2884G>A (p.Glu962Lys) c.2797G>A (p.Glu933Lys) c.1756G>A (p.Glu586Lys) | |
| 17 | g.46032152C>A | CA500371989 | KANSL1 | c.2985G>T (p.Pro995=) c.2982G>T (p.Pro994=) c.2793G>T (p.Pro931=) c.642G>T (p.Pro214=) n.402G>T c.2853G>T (p.Pro951=) n.7202G>T n.415G>T n.957G>T c.2883G>T (p.Pro961=) c.2796G>T (p.Pro932=) c.1755G>T (p.Pro585=) | gnomAD v4 |
| 17 | g.46032152C= | CA2262111024 | KANSL1 | c.2985G= (p.Pro995=) c.2982G= (p.Pro994=) c.2793G= (p.Pro931=) c.642G= (p.Pro214=) n.402G= c.2853G= (p.Pro951=) n.7202G= n.415G= n.957G= c.2883G= (p.Pro961=) c.2796G= (p.Pro932=) c.1755G= (p.Pro585=) | |
| 17 | g.46032152C>G | CA500371990 | KANSL1 | c.2985G>C (p.Pro995=) c.2982G>C (p.Pro994=) c.2793G>C (p.Pro931=) c.642G>C (p.Pro214=) n.402G>C c.2853G>C (p.Pro951=) n.7202G>C n.415G>C n.957G>C c.2883G>C (p.Pro961=) c.2796G>C (p.Pro932=) c.1755G>C (p.Pro585=) | |
| 17 | g.46032152C>T | CA8618408 | KANSL1 | c.2985G>A (p.Pro995=) c.2982G>A (p.Pro994=) c.2793G>A (p.Pro931=) c.642G>A (p.Pro214=) n.402G>A c.2853G>A (p.Pro951=) n.7202G>A n.415G>A n.957G>A c.2883G>A (p.Pro961=) c.2796G>A (p.Pro932=) c.1755G>A (p.Pro585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.46032153G>A | CA8618409 | KANSL1 | c.2984C>T (p.Pro995Leu) c.2981C>T (p.Pro994Leu) c.2792C>T (p.Pro931Leu) c.641C>T (p.Pro214Leu) n.401C>T c.2852C>T (p.Pro951Leu) n.7201C>T n.414C>T n.956C>T c.2882C>T (p.Pro961Leu) c.2795C>T (p.Pro932Leu) c.1754C>T (p.Pro585Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.46032153G>C | CA399986720 | KANSL1 | c.2984C>G (p.Pro995Arg) c.2981C>G (p.Pro994Arg) c.2792C>G (p.Pro931Arg) c.641C>G (p.Pro214Arg) n.401C>G c.2852C>G (p.Pro951Arg) n.7201C>G n.414C>G n.956C>G c.2882C>G (p.Pro961Arg) c.2795C>G (p.Pro932Arg) c.1754C>G (p.Pro585Arg) | |
| 17 | g.46032153G= | CA2262111025 | KANSL1 | c.2984C= (p.Pro995=) c.2981C= (p.Pro994=) c.2792C= (p.Pro931=) c.641C= (p.Pro214=) n.401C= c.2852C= (p.Pro951=) n.7201C= n.414C= n.956C= c.2882C= (p.Pro961=) c.2795C= (p.Pro932=) c.1754C= (p.Pro585=) | |
| 17 | g.46032153G>T | CA399986723 | KANSL1 | c.2984C>A (p.Pro995Gln) c.2981C>A (p.Pro994Gln) c.2792C>A (p.Pro931Gln) c.641C>A (p.Pro214Gln) n.401C>A c.2852C>A (p.Pro951Gln) n.7201C>A n.414C>A n.956C>A c.2882C>A (p.Pro961Gln) c.2795C>A (p.Pro932Gln) c.1754C>A (p.Pro585Gln) | |
| 17 | g.46032154G>A | CA399986726 | KANSL1 | c.2983C>T (p.Pro995Ser) c.2980C>T (p.Pro994Ser) c.2791C>T (p.Pro931Ser) c.640C>T (p.Pro214Ser) n.400C>T c.2851C>T (p.Pro951Ser) n.7200C>T n.413C>T n.955C>T c.2881C>T (p.Pro961Ser) c.2794C>T (p.Pro932Ser) c.1753C>T (p.Pro585Ser) | |
| 17 | g.46032154G>C | CA399986727 | KANSL1 | c.2983C>G (p.Pro995Ala) c.2980C>G (p.Pro994Ala) c.2791C>G (p.Pro931Ala) c.640C>G (p.Pro214Ala) n.400C>G c.2851C>G (p.Pro951Ala) n.7200C>G n.413C>G n.955C>G c.2881C>G (p.Pro961Ala) c.2794C>G (p.Pro932Ala) c.1753C>G (p.Pro585Ala) | |
| 17 | g.46032154G>T | CA399986729 | KANSL1 | c.2983C>A (p.Pro995Thr) c.2980C>A (p.Pro994Thr) c.2791C>A (p.Pro931Thr) c.640C>A (p.Pro214Thr) n.400C>A c.2851C>A (p.Pro951Thr) n.7200C>A n.413C>A n.955C>A c.2881C>A (p.Pro961Thr) c.2794C>A (p.Pro932Thr) c.1753C>A (p.Pro585Thr) | |
| 17 | g.46032155G>A | CA500371991 | KANSL1 | c.2982C>T (p.Ser994=) c.2979C>T (p.Ser993=) c.2790C>T (p.Ser930=) c.639C>T (p.Ser213=) n.399C>T c.2850C>T (p.Ser950=) n.7199C>T n.412C>T n.954C>T c.2880C>T (p.Ser960=) c.2793C>T (p.Ser931=) c.1752C>T (p.Ser584=) | |
| 17 | g.46032155G>C | CA399986733 | KANSL1 | c.2982C>G (p.Ser994Arg) c.2979C>G (p.Ser993Arg) c.2790C>G (p.Ser930Arg) c.639C>G (p.Ser213Arg) n.399C>G c.2850C>G (p.Ser950Arg) n.7199C>G n.412C>G n.954C>G c.2880C>G (p.Ser960Arg) c.2793C>G (p.Ser931Arg) c.1752C>G (p.Ser584Arg) | |
| 17 | g.46032155G>T | CA399986736 | KANSL1 | c.2982C>A (p.Ser994Arg) c.2979C>A (p.Ser993Arg) c.2790C>A (p.Ser930Arg) c.639C>A (p.Ser213Arg) n.399C>A c.2850C>A (p.Ser950Arg) n.7199C>A n.412C>A n.954C>A c.2880C>A (p.Ser960Arg) c.2793C>A (p.Ser931Arg) c.1752C>A (p.Ser584Arg) | |
| 17 | g.46032156C>A | CA399986740 | KANSL1 | c.2981G>T (p.Ser994Ile) c.2978G>T (p.Ser993Ile) c.2789G>T (p.Ser930Ile) c.638G>T (p.Ser213Ile) n.398G>T c.2849G>T (p.Ser950Ile) n.7198G>T n.411G>T n.953G>T c.2879G>T (p.Ser960Ile) c.2792G>T (p.Ser931Ile) c.1751G>T (p.Ser584Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.46032156C>G | CA399986743 | KANSL1 | c.2981G>C (p.Ser994Thr) c.2978G>C (p.Ser993Thr) c.2789G>C (p.Ser930Thr) c.638G>C (p.Ser213Thr) n.398G>C c.2849G>C (p.Ser950Thr) n.7198G>C n.411G>C n.953G>C c.2879G>C (p.Ser960Thr) c.2792G>C (p.Ser931Thr) c.1751G>C (p.Ser584Thr) | |
| 17 | g.46032156C>T | CA399986746 | KANSL1 | c.2981G>A (p.Ser994Asn) c.2978G>A (p.Ser993Asn) c.2789G>A (p.Ser930Asn) c.638G>A (p.Ser213Asn) n.398G>A c.2849G>A (p.Ser950Asn) n.7198G>A n.411G>A n.953G>A c.2879G>A (p.Ser960Asn) c.2792G>A (p.Ser931Asn) c.1751G>A (p.Ser584Asn) | |
| 17 | g.46032157T>A | CA399986749 | KANSL1 | c.2980A>T (p.Ser994Cys) c.2977A>T (p.Ser993Cys) c.2788A>T (p.Ser930Cys) c.637A>T (p.Ser213Cys) n.397A>T c.2848A>T (p.Ser950Cys) n.7197A>T n.410A>T n.952A>T c.2878A>T (p.Ser960Cys) c.2791A>T (p.Ser931Cys) c.1750A>T (p.Ser584Cys) | |
| 17 | g.46032157T>C | CA399986751 | KANSL1 | c.2980A>G (p.Ser994Gly) c.2977A>G (p.Ser993Gly) c.2788A>G (p.Ser930Gly) c.637A>G (p.Ser213Gly) n.397A>G c.2848A>G (p.Ser950Gly) n.7197A>G n.410A>G n.952A>G c.2878A>G (p.Ser960Gly) c.2791A>G (p.Ser931Gly) c.1750A>G (p.Ser584Gly) | ClinVar gnomAD v4 |
| 17 | g.46032157T>G | CA399986754 | KANSL1 | c.2980A>C (p.Ser994Arg) c.2977A>C (p.Ser993Arg) c.2788A>C (p.Ser930Arg) c.637A>C (p.Ser213Arg) n.397A>C c.2848A>C (p.Ser950Arg) n.7197A>C n.410A>C n.952A>C c.2878A>C (p.Ser960Arg) c.2791A>C (p.Ser931Arg) c.1750A>C (p.Ser584Arg) | |
| 17 | g.46032158A>C | CA399986758 | KANSL1 | c.2979T>G (p.Ile993Met) c.2976T>G (p.Ile992Met) c.2787T>G (p.Ile929Met) c.636T>G (p.Ile212Met) n.396T>G c.2847T>G (p.Ile949Met) n.7196T>G n.409T>G n.951T>G c.2877T>G (p.Ile959Met) c.2790T>G (p.Ile930Met) c.1749T>G (p.Ile583Met) | |
| 17 | g.46032158A>G | CA500371992 | KANSL1 | c.2979T>C (p.Ile993=) c.2976T>C (p.Ile992=) c.2787T>C (p.Ile929=) c.636T>C (p.Ile212=) n.396T>C c.2847T>C (p.Ile949=) n.7196T>C n.409T>C n.951T>C c.2877T>C (p.Ile959=) c.2790T>C (p.Ile930=) c.1749T>C (p.Ile583=) | gnomAD v4 |
| 17 | g.46032158A>T | CA500371993 | KANSL1 | c.2979T>A (p.Ile993=) c.2976T>A (p.Ile992=) c.2787T>A (p.Ile929=) c.636T>A (p.Ile212=) n.396T>A c.2847T>A (p.Ile949=) n.7196T>A n.409T>A n.951T>A c.2877T>A (p.Ile959=) c.2790T>A (p.Ile930=) c.1749T>A (p.Ile583=) | |
| 17 | g.46032159A>C | CA399986762 | KANSL1 | c.2978T>G (p.Ile993Ser) c.2975T>G (p.Ile992Ser) c.2786T>G (p.Ile929Ser) c.635T>G (p.Ile212Ser) n.395T>G c.2846T>G (p.Ile949Ser) n.7195T>G n.408T>G n.950T>G c.2876T>G (p.Ile959Ser) c.2789T>G (p.Ile930Ser) c.1748T>G (p.Ile583Ser) | |
| 17 | g.46032159A>G | CA399986764 | KANSL1 | c.2978T>C (p.Ile993Thr) c.2975T>C (p.Ile992Thr) c.2786T>C (p.Ile929Thr) c.635T>C (p.Ile212Thr) n.395T>C c.2846T>C (p.Ile949Thr) n.7195T>C n.408T>C n.950T>C c.2876T>C (p.Ile959Thr) c.2789T>C (p.Ile930Thr) c.1748T>C (p.Ile583Thr) | |
| 17 | g.46032159A>T | CA399986767 | KANSL1 | c.2978T>A (p.Ile993Asn) c.2975T>A (p.Ile992Asn) c.2786T>A (p.Ile929Asn) c.635T>A (p.Ile212Asn) n.395T>A c.2846T>A (p.Ile949Asn) n.7195T>A n.408T>A n.950T>A c.2876T>A (p.Ile959Asn) c.2789T>A (p.Ile930Asn) c.1748T>A (p.Ile583Asn) | |
| 17 | g.46032160T>A | CA399986770 | KANSL1 | c.2977A>T (p.Ile993Phe) c.2974A>T (p.Ile992Phe) c.2785A>T (p.Ile929Phe) c.634A>T (p.Ile212Phe) n.394A>T c.2845A>T (p.Ile949Phe) n.7194A>T n.407A>T n.949A>T c.2875A>T (p.Ile959Phe) c.2788A>T (p.Ile930Phe) c.1747A>T (p.Ile583Phe) | |
| 17 | g.46032160T>C | CA399986772 | KANSL1 | c.2977A>G (p.Ile993Val) c.2974A>G (p.Ile992Val) c.2785A>G (p.Ile929Val) c.634A>G (p.Ile212Val) n.394A>G c.2845A>G (p.Ile949Val) n.7194A>G n.407A>G n.949A>G c.2875A>G (p.Ile959Val) c.2788A>G (p.Ile930Val) c.1747A>G (p.Ile583Val) | |
| 17 | g.46032160T>G | CA399986774 | KANSL1 | c.2977A>C (p.Ile993Leu) c.2974A>C (p.Ile992Leu) c.2785A>C (p.Ile929Leu) c.634A>C (p.Ile212Leu) n.394A>C c.2845A>C (p.Ile949Leu) n.7194A>C n.407A>C n.949A>C c.2875A>C (p.Ile959Leu) c.2788A>C (p.Ile930Leu) c.1747A>C (p.Ile583Leu) | |
| 17 | g.46032161G>A | CA500371994 | KANSL1 | c.2976C>T (p.Pro992=) c.2973C>T (p.Pro991=) c.2784C>T (p.Pro928=) c.633C>T (p.Pro211=) n.393C>T c.2844C>T (p.Pro948=) n.7193C>T n.406C>T n.948C>T c.2874C>T (p.Pro958=) c.2787C>T (p.Pro929=) c.1746C>T (p.Pro582=) | |
| 17 | g.46032161G>C | CA500371995 | KANSL1 | c.2976C>G (p.Pro992=) c.2973C>G (p.Pro991=) c.2784C>G (p.Pro928=) c.633C>G (p.Pro211=) n.393C>G c.2844C>G (p.Pro948=) n.7193C>G n.406C>G n.948C>G c.2874C>G (p.Pro958=) c.2787C>G (p.Pro929=) c.1746C>G (p.Pro582=) | gnomAD v4 |
| 17 | g.46032161G>T | CA500371996 | KANSL1 | c.2976C>A (p.Pro992=) c.2973C>A (p.Pro991=) c.2784C>A (p.Pro928=) c.633C>A (p.Pro211=) n.393C>A c.2844C>A (p.Pro948=) n.7193C>A n.406C>A n.948C>A c.2874C>A (p.Pro958=) c.2787C>A (p.Pro929=) c.1746C>A (p.Pro582=) | |
| 17 | g.46032162G>A | CA399986777 | KANSL1 | c.2975C>T (p.Pro992Leu) c.2972C>T (p.Pro991Leu) c.2783C>T (p.Pro928Leu) c.632C>T (p.Pro211Leu) n.392C>T c.2843C>T (p.Pro948Leu) n.7192C>T n.405C>T n.947C>T c.2873C>T (p.Pro958Leu) c.2786C>T (p.Pro929Leu) c.1745C>T (p.Pro582Leu) | |
| 17 | g.46032162G>C | CA399986781 | KANSL1 | c.2975C>G (p.Pro992Arg) c.2972C>G (p.Pro991Arg) c.2783C>G (p.Pro928Arg) c.632C>G (p.Pro211Arg) n.392C>G c.2843C>G (p.Pro948Arg) n.7192C>G n.405C>G n.947C>G c.2873C>G (p.Pro958Arg) c.2786C>G (p.Pro929Arg) c.1745C>G (p.Pro582Arg) | |
| 17 | g.46032162G>T | CA399986778 | KANSL1 | c.2975C>A (p.Pro992His) c.2972C>A (p.Pro991His) c.2783C>A (p.Pro928His) c.632C>A (p.Pro211His) n.392C>A c.2843C>A (p.Pro948His) n.7192C>A n.405C>A n.947C>A c.2873C>A (p.Pro958His) c.2786C>A (p.Pro929His) c.1745C>A (p.Pro582His) | |
| 17 | g.46032163G>A | CA399986784 | KANSL1 | c.2974C>T (p.Pro992Ser) c.2971C>T (p.Pro991Ser) c.2782C>T (p.Pro928Ser) c.631C>T (p.Pro211Ser) n.391C>T c.2842C>T (p.Pro948Ser) n.7191C>T n.404C>T n.946C>T c.2872C>T (p.Pro958Ser) c.2785C>T (p.Pro929Ser) c.1744C>T (p.Pro582Ser) | dbSNP |
| 17 | g.46032163G>C | CA399986786 | KANSL1 | c.2974C>G (p.Pro992Ala) c.2971C>G (p.Pro991Ala) c.2782C>G (p.Pro928Ala) c.631C>G (p.Pro211Ala) n.391C>G c.2842C>G (p.Pro948Ala) n.7191C>G n.404C>G n.946C>G c.2872C>G (p.Pro958Ala) c.2785C>G (p.Pro929Ala) c.1744C>G (p.Pro582Ala) | |
| 17 | g.46032163G= | CA2262111026 | KANSL1 | c.2974C= (p.Pro992=) c.2971C= (p.Pro991=) c.2782C= (p.Pro928=) c.631C= (p.Pro211=) n.391C= c.2842C= (p.Pro948=) n.7191C= n.404C= n.946C= c.2872C= (p.Pro958=) c.2785C= (p.Pro929=) c.1744C= (p.Pro582=) |