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 |
|---|---|---|---|---|---|
| 6 | g.150839980G>A | CA4048122 | PLEKHG1 | c.3242G>A (p.Gly1081Glu) c.1158-1055G>A (n.1158-1055G>A) c.3419G>A (p.Gly1140Glu) c.3458G>A (p.Gly1153Glu) c.3362G>A (p.Gly1121Glu) c.3203G>A (p.Gly1068Glu) c.3125G>A (p.Gly1042Glu) c.1617-1055G>A (n.1617-1055G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.150839980G>C | CA366050794 | PLEKHG1 | c.3242G>C (p.Gly1081Ala) c.1158-1055G>C (n.1158-1055G>C) c.3419G>C (p.Gly1140Ala) c.3458G>C (p.Gly1153Ala) c.3362G>C (p.Gly1121Ala) c.3203G>C (p.Gly1068Ala) c.3125G>C (p.Gly1042Ala) c.1617-1055G>C (n.1617-1055G>C) | |
| 6 | g.150839980G= | CA1672598781 | PLEKHG1 | c.3242G= (p.Gly1081=) c.1158-1055G= (n.1158-1055G=) c.3419G= (p.Gly1140=) c.3458G= (p.Gly1153=) c.3362G= (p.Gly1121=) c.3203G= (p.Gly1068=) c.3125G= (p.Gly1042=) c.1617-1055G= (n.1617-1055G=) | |
| 6 | g.150839980G>T | CA366050795 | PLEKHG1 | c.3242G>T (p.Gly1081Val) c.1158-1055G>T (n.1158-1055G>T) c.3419G>T (p.Gly1140Val) c.3458G>T (p.Gly1153Val) c.3362G>T (p.Gly1121Val) c.3203G>T (p.Gly1068Val) c.3125G>T (p.Gly1042Val) c.1617-1055G>T (n.1617-1055G>T) | |
| 6 | g.150839981A>C | CA452725816 | PLEKHG1 | c.3243A>C (p.Gly1081=) c.1158-1054A>C (n.1158-1054A>C) c.3420A>C (p.Gly1140=) c.3459A>C (p.Gly1153=) c.3363A>C (p.Gly1121=) c.3204A>C (p.Gly1068=) c.3126A>C (p.Gly1042=) c.1617-1054A>C (n.1617-1054A>C) | |
| 6 | g.150839981A>G | CA452725822 | PLEKHG1 | c.3243A>G (p.Gly1081=) c.1158-1054A>G (n.1158-1054A>G) c.3420A>G (p.Gly1140=) c.3459A>G (p.Gly1153=) c.3363A>G (p.Gly1121=) c.3204A>G (p.Gly1068=) c.3126A>G (p.Gly1042=) c.1617-1054A>G (n.1617-1054A>G) | |
| 6 | g.150839981A>T | CA452725824 | PLEKHG1 | c.3243A>T (p.Gly1081=) c.1158-1054A>T (n.1158-1054A>T) c.3420A>T (p.Gly1140=) c.3459A>T (p.Gly1153=) c.3363A>T (p.Gly1121=) c.3204A>T (p.Gly1068=) c.3126A>T (p.Gly1042=) c.1617-1054A>T (n.1617-1054A>T) | |
| 6 | g.150839981_150839984del | CA2680776296 | PLEKHG1 | c.3243_3246del (p.Asp1082GlyfsTer12) c.1158-1054_1158-1051del (n.1158-1054_1158-1051del) c.3420_3423del (p.Asp1141GlyfsTer12) c.3459_3462del (p.Asp1154GlyfsTer12) c.3363_3366del (p.Asp1122GlyfsTer12) c.3204_3207del (p.Asp1069GlyfsTer12) c.3126_3129del (p.Asp1043GlyfsTer12) c.1617-1054_1617-1051del (n.1617-1054_1617-1051del) | gnomAD v4 |
| 6 | g.150839982G>A | CA366050796 | PLEKHG1 | c.3244G>A (p.Asp1082Asn) c.1158-1053G>A (n.1158-1053G>A) c.3421G>A (p.Asp1141Asn) c.3460G>A (p.Asp1154Asn) c.3364G>A (p.Asp1122Asn) c.3205G>A (p.Asp1069Asn) c.3127G>A (p.Asp1043Asn) c.1617-1053G>A (n.1617-1053G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.150839982G>C | CA366050797 | PLEKHG1 | c.3244G>C (p.Asp1082His) c.1158-1053G>C (n.1158-1053G>C) c.3421G>C (p.Asp1141His) c.3460G>C (p.Asp1154His) c.3364G>C (p.Asp1122His) c.3205G>C (p.Asp1069His) c.3127G>C (p.Asp1043His) c.1617-1053G>C (n.1617-1053G>C) | |
| 6 | g.150839982G= | CA1672598782 | PLEKHG1 | c.3244G= (p.Asp1082=) c.1158-1053G= (n.1158-1053G=) c.3421G= (p.Asp1141=) c.3460G= (p.Asp1154=) c.3364G= (p.Asp1122=) c.3205G= (p.Asp1069=) c.3127G= (p.Asp1043=) c.1617-1053G= (n.1617-1053G=) | |
| 6 | g.150839982G>T | CA366050798 | PLEKHG1 | c.3244G>T (p.Asp1082Tyr) c.1158-1053G>T (n.1158-1053G>T) c.3421G>T (p.Asp1141Tyr) c.3460G>T (p.Asp1154Tyr) c.3364G>T (p.Asp1122Tyr) c.3205G>T (p.Asp1069Tyr) c.3127G>T (p.Asp1043Tyr) c.1617-1053G>T (n.1617-1053G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.150839983A>C | CA366050799 | PLEKHG1 | c.3245A>C (p.Asp1082Ala) c.1158-1052A>C (n.1158-1052A>C) c.3422A>C (p.Asp1141Ala) c.3461A>C (p.Asp1154Ala) c.3365A>C (p.Asp1122Ala) c.3206A>C (p.Asp1069Ala) c.3128A>C (p.Asp1043Ala) c.1617-1052A>C (n.1617-1052A>C) | |
| 6 | g.150839983A>G | CA366050800 | PLEKHG1 | c.3245A>G (p.Asp1082Gly) c.1158-1052A>G (n.1158-1052A>G) c.3422A>G (p.Asp1141Gly) c.3461A>G (p.Asp1154Gly) c.3365A>G (p.Asp1122Gly) c.3206A>G (p.Asp1069Gly) c.3128A>G (p.Asp1043Gly) c.1617-1052A>G (n.1617-1052A>G) | |
| 6 | g.150839983A>T | CA366050801 | PLEKHG1 | c.3245A>T (p.Asp1082Val) c.1158-1052A>T (n.1158-1052A>T) c.3422A>T (p.Asp1141Val) c.3461A>T (p.Asp1154Val) c.3365A>T (p.Asp1122Val) c.3206A>T (p.Asp1069Val) c.3128A>T (p.Asp1043Val) c.1617-1052A>T (n.1617-1052A>T) | |
| 6 | g.150839984C>A | CA366050802 | PLEKHG1 | c.3246C>A (p.Asp1082Glu) c.1158-1051C>A (n.1158-1051C>A) c.3423C>A (p.Asp1141Glu) c.3462C>A (p.Asp1154Glu) c.3366C>A (p.Asp1122Glu) c.3207C>A (p.Asp1069Glu) c.3129C>A (p.Asp1043Glu) c.1617-1051C>A (n.1617-1051C>A) | |
| 6 | g.150839984C>G | CA366050803 | PLEKHG1 | c.3246C>G (p.Asp1082Glu) c.1158-1051C>G (n.1158-1051C>G) c.3423C>G (p.Asp1141Glu) c.3462C>G (p.Asp1154Glu) c.3366C>G (p.Asp1122Glu) c.3207C>G (p.Asp1069Glu) c.3129C>G (p.Asp1043Glu) c.1617-1051C>G (n.1617-1051C>G) | |
| 6 | g.150839984C>T | CA452725834 | PLEKHG1 | c.3246C>T (p.Asp1082=) c.1158-1051C>T (n.1158-1051C>T) c.3423C>T (p.Asp1141=) c.3462C>T (p.Asp1154=) c.3366C>T (p.Asp1122=) c.3207C>T (p.Asp1069=) c.3129C>T (p.Asp1043=) c.1617-1051C>T (n.1617-1051C>T) | |
| 6 | g.150839985T>A | CA366050806 | PLEKHG1 | c.3247T>A (p.Trp1083Arg) c.1158-1050T>A (n.1158-1050T>A) c.3424T>A (p.Trp1142Arg) c.3463T>A (p.Trp1155Arg) c.3367T>A (p.Trp1123Arg) c.3208T>A (p.Trp1070Arg) c.3130T>A (p.Trp1044Arg) c.1617-1050T>A (n.1617-1050T>A) | gnomAD v4 |
| 6 | g.150839985T>C | CA366050805 | PLEKHG1 | c.3247T>C (p.Trp1083Arg) c.1158-1050T>C (n.1158-1050T>C) c.3424T>C (p.Trp1142Arg) c.3463T>C (p.Trp1155Arg) c.3367T>C (p.Trp1123Arg) c.3208T>C (p.Trp1070Arg) c.3130T>C (p.Trp1044Arg) c.1617-1050T>C (n.1617-1050T>C) | gnomAD v4 |
| 6 | g.150839985T>G | CA366050804 | PLEKHG1 | c.3247T>G (p.Trp1083Gly) c.1158-1050T>G (n.1158-1050T>G) c.3424T>G (p.Trp1142Gly) c.3463T>G (p.Trp1155Gly) c.3367T>G (p.Trp1123Gly) c.3208T>G (p.Trp1070Gly) c.3130T>G (p.Trp1044Gly) c.1617-1050T>G (n.1617-1050T>G) | |
| 6 | g.150839986G>A | CA366050807 | PLEKHG1 | c.3248G>A (p.Trp1083Ter) c.1158-1049G>A (n.1158-1049G>A) c.3425G>A (p.Trp1142Ter) c.3464G>A (p.Trp1155Ter) c.3368G>A (p.Trp1123Ter) c.3209G>A (p.Trp1070Ter) c.3131G>A (p.Trp1044Ter) c.1617-1049G>A (n.1617-1049G>A) | |
| 6 | g.150839986G>C | CA366050808 | PLEKHG1 | c.3248G>C (p.Trp1083Ser) c.1158-1049G>C (n.1158-1049G>C) c.3425G>C (p.Trp1142Ser) c.3464G>C (p.Trp1155Ser) c.3368G>C (p.Trp1123Ser) c.3209G>C (p.Trp1070Ser) c.3131G>C (p.Trp1044Ser) c.1617-1049G>C (n.1617-1049G>C) | |
| 6 | g.150839986G>T | CA366050809 | PLEKHG1 | c.3248G>T (p.Trp1083Leu) c.1158-1049G>T (n.1158-1049G>T) c.3425G>T (p.Trp1142Leu) c.3464G>T (p.Trp1155Leu) c.3368G>T (p.Trp1123Leu) c.3209G>T (p.Trp1070Leu) c.3131G>T (p.Trp1044Leu) c.1617-1049G>T (n.1617-1049G>T) | |
| 6 | g.150839987del | CA2680776297 | PLEKHG1 | c.3249del (p.Trp1083CysfsTer12) c.1158-1048del (n.1158-1048del) c.3426del (p.Trp1142CysfsTer12) c.3465del (p.Trp1155CysfsTer12) c.3369del (p.Trp1123CysfsTer12) c.3210del (p.Trp1070CysfsTer12) c.3132del (p.Trp1044CysfsTer12) c.1617-1048del (n.1617-1048del) | gnomAD v4 |
| 6 | g.150839987G>A | CA366050810 | PLEKHG1 | c.3249G>A (p.Trp1083Ter) c.1158-1048G>A (n.1158-1048G>A) c.3426G>A (p.Trp1142Ter) c.3465G>A (p.Trp1155Ter) c.3369G>A (p.Trp1123Ter) c.3210G>A (p.Trp1070Ter) c.3132G>A (p.Trp1044Ter) c.1617-1048G>A (n.1617-1048G>A) | |
| 6 | g.150839987G>C | CA366050811 | PLEKHG1 | c.3249G>C (p.Trp1083Cys) c.1158-1048G>C (n.1158-1048G>C) c.3426G>C (p.Trp1142Cys) c.3465G>C (p.Trp1155Cys) c.3369G>C (p.Trp1123Cys) c.3210G>C (p.Trp1070Cys) c.3132G>C (p.Trp1044Cys) c.1617-1048G>C (n.1617-1048G>C) | |
| 6 | g.150839987G>T | CA366050812 | PLEKHG1 | c.3249G>T (p.Trp1083Cys) c.1158-1048G>T (n.1158-1048G>T) c.3426G>T (p.Trp1142Cys) c.3465G>T (p.Trp1155Cys) c.3369G>T (p.Trp1123Cys) c.3210G>T (p.Trp1070Cys) c.3132G>T (p.Trp1044Cys) c.1617-1048G>T (n.1617-1048G>T) | |
| 6 | g.150839988C>A | CA366050813 | PLEKHG1 | c.3250C>A (p.Leu1084Ile) c.1158-1047C>A (n.1158-1047C>A) c.3427C>A (p.Leu1143Ile) c.3466C>A (p.Leu1156Ile) c.3370C>A (p.Leu1124Ile) c.3211C>A (p.Leu1071Ile) c.3133C>A (p.Leu1045Ile) c.1617-1047C>A (n.1617-1047C>A) | |
| 6 | g.150839988C>G | CA366050814 | PLEKHG1 | c.3250C>G (p.Leu1084Val) c.1158-1047C>G (n.1158-1047C>G) c.3427C>G (p.Leu1143Val) c.3466C>G (p.Leu1156Val) c.3370C>G (p.Leu1124Val) c.3211C>G (p.Leu1071Val) c.3133C>G (p.Leu1045Val) c.1617-1047C>G (n.1617-1047C>G) | |
| 6 | g.150839988C>T | CA366050815 | PLEKHG1 | c.3250C>T (p.Leu1084Phe) c.1158-1047C>T (n.1158-1047C>T) c.3427C>T (p.Leu1143Phe) c.3466C>T (p.Leu1156Phe) c.3370C>T (p.Leu1124Phe) c.3211C>T (p.Leu1071Phe) c.3133C>T (p.Leu1045Phe) c.1617-1047C>T (n.1617-1047C>T) | |
| 6 | g.150839989T>A | CA366050816 | PLEKHG1 | c.3251T>A (p.Leu1084His) c.1158-1046T>A (n.1158-1046T>A) c.3428T>A (p.Leu1143His) c.3467T>A (p.Leu1156His) c.3371T>A (p.Leu1124His) c.3212T>A (p.Leu1071His) c.3134T>A (p.Leu1045His) c.1617-1046T>A (n.1617-1046T>A) | |
| 6 | g.150839989T>C | CA366050817 | PLEKHG1 | c.3251T>C (p.Leu1084Pro) c.1158-1046T>C (n.1158-1046T>C) c.3428T>C (p.Leu1143Pro) c.3467T>C (p.Leu1156Pro) c.3371T>C (p.Leu1124Pro) c.3212T>C (p.Leu1071Pro) c.3134T>C (p.Leu1045Pro) c.1617-1046T>C (n.1617-1046T>C) | gnomAD v4 |
| 6 | g.150839989T>G | CA4048123 | PLEKHG1 | c.3251T>G (p.Leu1084Arg) c.1158-1046T>G (n.1158-1046T>G) c.3428T>G (p.Leu1143Arg) c.3467T>G (p.Leu1156Arg) c.3371T>G (p.Leu1124Arg) c.3212T>G (p.Leu1071Arg) c.3134T>G (p.Leu1045Arg) c.1617-1046T>G (n.1617-1046T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.150839989T= | CA1672598783 | PLEKHG1 | c.3251T= (p.Leu1084=) c.1158-1046T= (n.1158-1046T=) c.3428T= (p.Leu1143=) c.3467T= (p.Leu1156=) c.3371T= (p.Leu1124=) c.3212T= (p.Leu1071=) c.3134T= (p.Leu1045=) c.1617-1046T= (n.1617-1046T=) | |
| 6 | g.150839990T>A | CA452725860 | PLEKHG1 | c.3252T>A (p.Leu1084=) c.1158-1045T>A (n.1158-1045T>A) c.3429T>A (p.Leu1143=) c.3468T>A (p.Leu1156=) c.3372T>A (p.Leu1124=) c.3213T>A (p.Leu1071=) c.3135T>A (p.Leu1045=) c.1617-1045T>A (n.1617-1045T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.150839990T>C | CA452725863 | PLEKHG1 | c.3252T>C (p.Leu1084=) c.1158-1045T>C (n.1158-1045T>C) c.3429T>C (p.Leu1143=) c.3468T>C (p.Leu1156=) c.3372T>C (p.Leu1124=) c.3213T>C (p.Leu1071=) c.3135T>C (p.Leu1045=) c.1617-1045T>C (n.1617-1045T>C) | |
| 6 | g.150839990T>G | CA452725862 | PLEKHG1 | c.3252T>G (p.Leu1084=) c.1158-1045T>G (n.1158-1045T>G) c.3429T>G (p.Leu1143=) c.3468T>G (p.Leu1156=) c.3372T>G (p.Leu1124=) c.3213T>G (p.Leu1071=) c.3135T>G (p.Leu1045=) c.1617-1045T>G (n.1617-1045T>G) | |
| 6 | g.150839990T= | CA1672598784 | PLEKHG1 | c.3252T= (p.Leu1084=) c.1158-1045T= (n.1158-1045T=) c.3429T= (p.Leu1143=) c.3468T= (p.Leu1156=) c.3372T= (p.Leu1124=) c.3213T= (p.Leu1071=) c.3135T= (p.Leu1045=) c.1617-1045T= (n.1617-1045T=) | |
| 6 | g.150839991C>A | CA366050819 | PLEKHG1 | c.3253C>A (p.Leu1085Met) c.1158-1044C>A (n.1158-1044C>A) c.3430C>A (p.Leu1144Met) c.3469C>A (p.Leu1157Met) c.3373C>A (p.Leu1125Met) c.3214C>A (p.Leu1072Met) c.3136C>A (p.Leu1046Met) c.1617-1044C>A (n.1617-1044C>A) | |
| 6 | g.150839991C= | CA1672598785 | PLEKHG1 | c.3253C= (p.Leu1085=) c.1158-1044C= (n.1158-1044C=) c.3430C= (p.Leu1144=) c.3469C= (p.Leu1157=) c.3373C= (p.Leu1125=) c.3214C= (p.Leu1072=) c.3136C= (p.Leu1046=) c.1617-1044C= (n.1617-1044C=) | |
| 6 | g.150839991C>G | CA366050818 | PLEKHG1 | c.3253C>G (p.Leu1085Val) c.1158-1044C>G (n.1158-1044C>G) c.3430C>G (p.Leu1144Val) c.3469C>G (p.Leu1157Val) c.3373C>G (p.Leu1125Val) c.3214C>G (p.Leu1072Val) c.3136C>G (p.Leu1046Val) c.1617-1044C>G (n.1617-1044C>G) | |
| 6 | g.150839991C>T | CA4048124 | PLEKHG1 | c.3253C>T (p.Leu1085=) c.1158-1044C>T (n.1158-1044C>T) c.3430C>T (p.Leu1144=) c.3469C>T (p.Leu1157=) c.3373C>T (p.Leu1125=) c.3214C>T (p.Leu1072=) c.3136C>T (p.Leu1046=) c.1617-1044C>T (n.1617-1044C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.150839992T>A | CA366050820 | PLEKHG1 | c.3254T>A (p.Leu1085Gln) c.1158-1043T>A (n.1158-1043T>A) c.3431T>A (p.Leu1144Gln) c.3470T>A (p.Leu1157Gln) c.3374T>A (p.Leu1125Gln) c.3215T>A (p.Leu1072Gln) c.3137T>A (p.Leu1046Gln) c.1617-1043T>A (n.1617-1043T>A) | |
| 6 | g.150839992T>C | CA366050822 | PLEKHG1 | c.3254T>C (p.Leu1085Pro) c.1158-1043T>C (n.1158-1043T>C) c.3431T>C (p.Leu1144Pro) c.3470T>C (p.Leu1157Pro) c.3374T>C (p.Leu1125Pro) c.3215T>C (p.Leu1072Pro) c.3137T>C (p.Leu1046Pro) c.1617-1043T>C (n.1617-1043T>C) | |
| 6 | g.150839992T>G | CA366050821 | PLEKHG1 | c.3254T>G (p.Leu1085Arg) c.1158-1043T>G (n.1158-1043T>G) c.3431T>G (p.Leu1144Arg) c.3470T>G (p.Leu1157Arg) c.3374T>G (p.Leu1125Arg) c.3215T>G (p.Leu1072Arg) c.3137T>G (p.Leu1046Arg) c.1617-1043T>G (n.1617-1043T>G) | |
| 6 | g.150839993G>A | CA150073199 | PLEKHG1 | c.3255G>A (p.Leu1085=) c.1158-1042G>A (n.1158-1042G>A) c.3432G>A (p.Leu1144=) c.3471G>A (p.Leu1157=) c.3375G>A (p.Leu1125=) c.3216G>A (p.Leu1072=) c.3138G>A (p.Leu1046=) c.1617-1042G>A (n.1617-1042G>A) | dbSNP |
| 6 | g.150839993G>C | CA452725872 | PLEKHG1 | c.3255G>C (p.Leu1085=) c.1158-1042G>C (n.1158-1042G>C) c.3432G>C (p.Leu1144=) c.3471G>C (p.Leu1157=) c.3375G>C (p.Leu1125=) c.3216G>C (p.Leu1072=) c.3138G>C (p.Leu1046=) c.1617-1042G>C (n.1617-1042G>C) | |
| 6 | g.150839993G= | CA1672598786 | PLEKHG1 | c.3255G= (p.Leu1085=) c.1158-1042G= (n.1158-1042G=) c.3432G= (p.Leu1144=) c.3471G= (p.Leu1157=) c.3375G= (p.Leu1125=) c.3216G= (p.Leu1072=) c.3138G= (p.Leu1046=) c.1617-1042G= (n.1617-1042G=) | |
| 6 | g.150839993G>T | CA452725874 | PLEKHG1 | c.3255G>T (p.Leu1085=) c.1158-1042G>T (n.1158-1042G>T) c.3432G>T (p.Leu1144=) c.3471G>T (p.Leu1157=) c.3375G>T (p.Leu1125=) c.3216G>T (p.Leu1072=) c.3138G>T (p.Leu1046=) c.1617-1042G>T (n.1617-1042G>T) | dbSNP gnomAD v4 |