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 |
|---|---|---|---|---|---|
| 7 | g.41966185del | CA2682510163 | GLI3 | c.2890del (p.Leu964SerfsTer?) c.2716del (p.Leu906SerfsTer?) n.2867del c.2713del (p.Leu905SerfsTer?) c.2887del (p.Leu963SerfsTer?) | gnomAD v4 |
| 7 | g.41966185G>A | CA4230504 | GLI3 | c.2888C>T (p.Ala963Val) c.2714C>T (p.Ala905Val) n.2865C>T c.2711C>T (p.Ala904Val) c.2885C>T (p.Ala962Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966185G>C | CA367320081 | GLI3 | c.2888C>G (p.Ala963Gly) c.2714C>G (p.Ala905Gly) n.2865C>G c.2711C>G (p.Ala904Gly) c.2885C>G (p.Ala962Gly) | |
| 7 | g.41966185G= | CA1702661157 | GLI3 | c.2888C= (p.Ala963=) c.2714C= (p.Ala905=) n.2865C= c.2711C= (p.Ala904=) c.2885C= (p.Ala962=) | |
| 7 | g.41966185G>T | CA367320082 | GLI3 | c.2888C>A (p.Ala963Asp) c.2714C>A (p.Ala905Asp) n.2865C>A c.2711C>A (p.Ala904Asp) c.2885C>A (p.Ala962Asp) | gnomAD v4 |
| 7 | g.41966186C>A | CA367320090 | GLI3 | c.2887G>T (p.Ala963Ser) c.2713G>T (p.Ala905Ser) n.2864G>T c.2710G>T (p.Ala904Ser) c.2884G>T (p.Ala962Ser) | gnomAD v4 |
| 7 | g.41966186C= | CA1702661158 | GLI3 | c.2887G= (p.Ala963=) c.2713G= (p.Ala905=) n.2864G= c.2710G= (p.Ala904=) c.2884G= (p.Ala962=) | |
| 7 | g.41966186C>G | CA367320085 | GLI3 | c.2887G>C (p.Ala963Pro) c.2713G>C (p.Ala905Pro) n.2864G>C c.2710G>C (p.Ala904Pro) c.2884G>C (p.Ala962Pro) | |
| 7 | g.41966186C>T | CA4230505 | GLI3 | c.2887G>A (p.Ala963Thr) c.2713G>A (p.Ala905Thr) n.2864G>A c.2710G>A (p.Ala904Thr) c.2884G>A (p.Ala962Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966187A>C | CA367320092 | GLI3 | c.2886T>G (p.Asp962Glu) c.2712T>G (p.Asp904Glu) n.2863T>G c.2709T>G (p.Asp903Glu) c.2883T>G (p.Asp961Glu) | |
| 7 | g.41966187A>G | CA454662179 | GLI3 | c.2886T>C (p.Asp962=) c.2712T>C (p.Asp904=) n.2863T>C c.2709T>C (p.Asp903=) c.2883T>C (p.Asp961=) | |
| 7 | g.41966187A>T | CA367320093 | GLI3 | c.2886T>A (p.Asp962Glu) c.2712T>A (p.Asp904Glu) n.2863T>A c.2709T>A (p.Asp903Glu) c.2883T>A (p.Asp961Glu) | |
| 7 | g.41966188T>A | CA367320094 | GLI3 | c.2885A>T (p.Asp962Val) c.2711A>T (p.Asp904Val) n.2862A>T c.2708A>T (p.Asp903Val) c.2882A>T (p.Asp961Val) | |
| 7 | g.41966188T>C | CA367320095 | GLI3 | c.2885A>G (p.Asp962Gly) c.2711A>G (p.Asp904Gly) n.2862A>G c.2708A>G (p.Asp903Gly) c.2882A>G (p.Asp961Gly) | gnomAD v4 |
| 7 | g.41966188T>G | CA367320098 | GLI3 | c.2885A>C (p.Asp962Ala) c.2711A>C (p.Asp904Ala) n.2862A>C c.2708A>C (p.Asp903Ala) c.2882A>C (p.Asp961Ala) | |
| 7 | g.41966189C>A | CA367320101 | GLI3 | c.2884G>T (p.Asp962Tyr) c.2710G>T (p.Asp904Tyr) n.2861G>T c.2707G>T (p.Asp903Tyr) c.2881G>T (p.Asp961Tyr) | |
| 7 | g.41966189C= | CA1702661159 | GLI3 | c.2884G= (p.Asp962=) c.2710G= (p.Asp904=) n.2861G= c.2707G= (p.Asp903=) c.2881G= (p.Asp961=) | |
| 7 | g.41966189C>G | CA367320103 | GLI3 | c.2884G>C (p.Asp962His) c.2710G>C (p.Asp904His) n.2861G>C c.2707G>C (p.Asp903His) c.2881G>C (p.Asp961His) | ClinVar |
| 7 | g.41966189C>T | CA367320105 | GLI3 | c.2884G>A (p.Asp962Asn) c.2710G>A (p.Asp904Asn) n.2861G>A c.2707G>A (p.Asp903Asn) c.2881G>A (p.Asp961Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966192del | CA2695207654 | GLI3 | c.2884del (p.Asp962MetfsTer?) c.2710del (p.Asp904MetfsTer?) n.2861del c.2707del (p.Asp903MetfsTer?) c.2881del (p.Asp961MetfsTer?) | |
| 7 | g.41966190C>A | CA156905139 | GLI3 | c.2883G>T (p.Gly961=) c.2709G>T (p.Gly903=) n.2860G>T c.2706G>T (p.Gly902=) c.2880G>T (p.Gly960=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966190C= | CA1702661160 | GLI3 | c.2883G= (p.Gly961=) c.2709G= (p.Gly903=) n.2860G= c.2706G= (p.Gly902=) c.2880G= (p.Gly960=) | |
| 7 | g.41966190C>G | CA454662183 | GLI3 | c.2883G>C (p.Gly961=) c.2709G>C (p.Gly903=) n.2860G>C c.2706G>C (p.Gly902=) c.2880G>C (p.Gly960=) | dbSNP gnomAD v4 |
| 7 | g.41966190C>T | CA454662184 | GLI3 | c.2883G>A (p.Gly961=) c.2709G>A (p.Gly903=) n.2860G>A c.2706G>A (p.Gly902=) c.2880G>A (p.Gly960=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966191C>A | CA367320109 | GLI3 | c.2882G>T (p.Gly961Val) c.2708G>T (p.Gly903Val) n.2859G>T c.2705G>T (p.Gly902Val) c.2879G>T (p.Gly960Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966191C= | CA1702661161 | GLI3 | c.2882G= (p.Gly961=) c.2708G= (p.Gly903=) n.2859G= c.2705G= (p.Gly902=) c.2879G= (p.Gly960=) | |
| 7 | g.41966191C>G | CA367320110 | GLI3 | c.2882G>C (p.Gly961Ala) c.2708G>C (p.Gly903Ala) n.2859G>C c.2705G>C (p.Gly902Ala) c.2879G>C (p.Gly960Ala) | gnomAD v4 |
| 7 | g.41966191C>T | CA367320113 | GLI3 | c.2882G>A (p.Gly961Glu) c.2708G>A (p.Gly903Glu) n.2859G>A c.2705G>A (p.Gly902Glu) c.2879G>A (p.Gly960Glu) | gnomAD v4 |
| 7 | g.41966192C>A | CA367320119 | GLI3 | c.2881G>T (p.Gly961Trp) c.2707G>T (p.Gly903Trp) n.2858G>T c.2704G>T (p.Gly902Trp) c.2878G>T (p.Gly960Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966192C= | CA1702661162 | GLI3 | c.2881G= (p.Gly961=) c.2707G= (p.Gly903=) n.2858G= c.2704G= (p.Gly902=) c.2878G= (p.Gly960=) | |
| 7 | g.41966192C>G | CA367320117 | GLI3 | c.2881G>C (p.Gly961Arg) c.2707G>C (p.Gly903Arg) n.2858G>C c.2704G>C (p.Gly902Arg) c.2878G>C (p.Gly960Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966192C>T | CA4230506 | GLI3 | c.2881G>A (p.Gly961Arg) c.2707G>A (p.Gly903Arg) n.2858G>A c.2704G>A (p.Gly902Arg) c.2878G>A (p.Gly960Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966193G>A | CA4230507 | GLI3 | c.2880C>T (p.Leu960=) c.2706C>T (p.Leu902=) n.2857C>T c.2703C>T (p.Leu901=) c.2877C>T (p.Leu959=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966193G>C | CA454662189 | GLI3 | c.2880C>G (p.Leu960=) c.2706C>G (p.Leu902=) n.2857C>G c.2703C>G (p.Leu901=) c.2877C>G (p.Leu959=) | gnomAD v4 |
| 7 | g.41966193G= | CA1702661163 | GLI3 | c.2880C= (p.Leu960=) c.2706C= (p.Leu902=) n.2857C= c.2703C= (p.Leu901=) c.2877C= (p.Leu959=) | |
| 7 | g.41966193G>T | CA454662192 | GLI3 | c.2880C>A (p.Leu960=) c.2706C>A (p.Leu902=) n.2857C>A c.2703C>A (p.Leu901=) c.2877C>A (p.Leu959=) | gnomAD v4 |
| 7 | g.41966194_41966198dup | CA2740097348 | GLI3 | c.2876_2880dup (p.Gly961CysfsTer?) c.2702_2706dup (p.Gly903CysfsTer?) n.2853_2857dup c.2699_2703dup (p.Gly902CysfsTer?) c.2873_2877dup (p.Gly960CysfsTer?) | ClinVar |
| 7 | g.41966194A>C | CA367320128 | GLI3 | c.2879T>G (p.Leu960Arg) c.2705T>G (p.Leu902Arg) n.2856T>G c.2702T>G (p.Leu901Arg) c.2876T>G (p.Leu959Arg) | |
| 7 | g.41966194A>G | CA367320124 | GLI3 | c.2879T>C (p.Leu960Pro) c.2705T>C (p.Leu902Pro) n.2856T>C c.2702T>C (p.Leu901Pro) c.2876T>C (p.Leu959Pro) | COSMIC |
| 7 | g.41966194A>T | CA367320126 | GLI3 | c.2879T>A (p.Leu960His) c.2705T>A (p.Leu902His) n.2856T>A c.2702T>A (p.Leu901His) c.2876T>A (p.Leu959His) | |
| 7 | g.41966194_41966199delinsAGCAGC | CA1702661164 | GLI3 | c.2874_2879delinsGCTGCT (p.Ala958=) c.2700_2705delinsGCTGCT (p.Ala900=) n.2851_2856delinsGCTGCT c.2697_2702delinsGCTGCT (p.Ala899=) c.2871_2876delinsGCTGCT (p.Ala957=) | |
| 7 | g.41966195G>A | CA367320131 | GLI3 | c.2878C>T (p.Leu960Phe) c.2704C>T (p.Leu902Phe) n.2855C>T c.2701C>T (p.Leu901Phe) c.2875C>T (p.Leu959Phe) | gnomAD v4 |
| 7 | g.41966195G>C | CA367320133 | GLI3 | c.2878C>G (p.Leu960Val) c.2704C>G (p.Leu902Val) n.2855C>G c.2701C>G (p.Leu901Val) c.2875C>G (p.Leu959Val) | |
| 7 | g.41966195G>T | CA367320135 | GLI3 | c.2878C>A (p.Leu960Ile) c.2704C>A (p.Leu902Ile) n.2855C>A c.2701C>A (p.Leu901Ile) c.2875C>A (p.Leu959Ile) | gnomAD v4 |
| 7 | g.41966197_41966201del | CA917990642 | GLI3 | c.2874_2878del (p.Leu959ArgfsTer?) c.2700_2704del (p.Leu901ArgfsTer?) n.2851_2855del c.2697_2701del (p.Leu900ArgfsTer?) c.2871_2875del (p.Leu958ArgfsTer?) | dbSNP |
| 7 | g.41966196C>A | CA4230508 | GLI3 | c.2877G>T (p.Leu959=) c.2703G>T (p.Leu901=) n.2854G>T c.2700G>T (p.Leu900=) c.2874G>T (p.Leu958=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966196C= | CA1702661165 | GLI3 | c.2877G= (p.Leu959=) c.2703G= (p.Leu901=) n.2854G= c.2700G= (p.Leu900=) c.2874G= (p.Leu958=) | |
| 7 | g.41966196C>G | CA454662193 | GLI3 | c.2877G>C (p.Leu959=) c.2703G>C (p.Leu901=) n.2854G>C c.2700G>C (p.Leu900=) c.2874G>C (p.Leu958=) | |
| 7 | g.41966196C>T | CA454662195 | GLI3 | c.2877G>A (p.Leu959=) c.2703G>A (p.Leu901=) n.2854G>A c.2700G>A (p.Leu900=) c.2874G>A (p.Leu958=) | gnomAD v4 |
| 7 | g.41966197A>C | CA367320144 | GLI3 | c.2876T>G (p.Leu959Arg) c.2702T>G (p.Leu901Arg) n.2853T>G c.2699T>G (p.Leu900Arg) c.2873T>G (p.Leu958Arg) |