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 |
|---|---|---|---|---|---|
| 19 | g.7122928G>A | CA9135304 | INSR | c.3320C>T (p.Ala1107Val) c.3284C>T (p.Ala1095Val) n.166C>T n.231C>T c.3395C>T (p.Ala1132Val) c.3359C>T (p.Ala1120Val) c.3317C>T (p.Ala1106Val) c.3281C>T (p.Ala1094Val) | dbSNP ExAC gnomAD v2 |
| 19 | g.7122928G>C | CA403670823 | INSR | c.3320C>G (p.Ala1107Gly) c.3284C>G (p.Ala1095Gly) n.166C>G n.231C>G c.3395C>G (p.Ala1132Gly) c.3359C>G (p.Ala1120Gly) c.3317C>G (p.Ala1106Gly) c.3281C>G (p.Ala1094Gly) | |
| 19 | g.7122928G= | CA2320766502 | INSR | c.3320C= (p.Ala1107=) c.3284C= (p.Ala1095=) n.166C= n.231C= c.3395C= (p.Ala1132=) c.3359C= (p.Ala1120=) c.3317C= (p.Ala1106=) c.3281C= (p.Ala1094=) | |
| 19 | g.7122928G>T | CA403670822 | INSR | c.3320C>A (p.Ala1107Asp) c.3284C>A (p.Ala1095Asp) n.166C>A n.231C>A c.3395C>A (p.Ala1132Asp) c.3359C>A (p.Ala1120Asp) c.3317C>A (p.Ala1106Asp) c.3281C>A (p.Ala1094Asp) | |
| 19 | g.7122929C>A | CA403670824 | INSR | c.3319G>T (p.Ala1107Ser) c.3283G>T (p.Ala1095Ser) n.165G>T n.230G>T c.3394G>T (p.Ala1132Ser) c.3358G>T (p.Ala1120Ser) c.3316G>T (p.Ala1106Ser) c.3280G>T (p.Ala1094Ser) | |
| 19 | g.7122929C= | CA2320766503 | INSR | c.3319G= (p.Ala1107=) c.3283G= (p.Ala1095=) n.165G= n.230G= c.3394G= (p.Ala1132=) c.3358G= (p.Ala1120=) c.3316G= (p.Ala1106=) c.3280G= (p.Ala1094=) | |
| 19 | g.7122929C>G | CA403670825 | INSR | c.3319G>C (p.Ala1107Pro) c.3283G>C (p.Ala1095Pro) n.165G>C n.230G>C c.3394G>C (p.Ala1132Pro) c.3358G>C (p.Ala1120Pro) c.3316G>C (p.Ala1106Pro) c.3280G>C (p.Ala1094Pro) | |
| 19 | g.7122929C>T | CA9135305 | INSR | c.3319G>A (p.Ala1107Thr) c.3283G>A (p.Ala1095Thr) n.165G>A n.230G>A c.3394G>A (p.Ala1132Thr) c.3358G>A (p.Ala1120Thr) c.3316G>A (p.Ala1106Thr) c.3280G>A (p.Ala1094Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7122930C>A | CA403670827 | INSR | c.3318G>T (p.Met1106Ile) c.3282G>T (p.Met1094Ile) n.164G>T n.229G>T c.3393G>T (p.Met1131Ile) c.3357G>T (p.Met1119Ile) c.3315G>T (p.Met1105Ile) c.3279G>T (p.Met1093Ile) | gnomAD v4 |
| 19 | g.7122930C>G | CA403670828 | INSR | c.3318G>C (p.Met1106Ile) c.3282G>C (p.Met1094Ile) n.164G>C n.229G>C c.3393G>C (p.Met1131Ile) c.3357G>C (p.Met1119Ile) c.3315G>C (p.Met1105Ile) c.3279G>C (p.Met1093Ile) | |
| 19 | g.7122930C>T | CA403670829 | INSR | c.3318G>A (p.Met1106Ile) c.3282G>A (p.Met1094Ile) n.164G>A n.229G>A c.3393G>A (p.Met1131Ile) c.3357G>A (p.Met1119Ile) c.3315G>A (p.Met1105Ile) c.3279G>A (p.Met1093Ile) | |
| 19 | g.7122931A= | CA2320766504 | INSR | c.3317T= (p.Met1106=) c.3281T= (p.Met1094=) n.163T= n.228T= c.3392T= (p.Met1131=) c.3356T= (p.Met1119=) c.3314T= (p.Met1105=) c.3278T= (p.Met1093=) | |
| 19 | g.7122931A>C | CA403670830 | INSR | c.3317T>G (p.Met1106Arg) c.3281T>G (p.Met1094Arg) n.163T>G n.228T>G c.3392T>G (p.Met1131Arg) c.3356T>G (p.Met1119Arg) c.3314T>G (p.Met1105Arg) c.3278T>G (p.Met1093Arg) | dbSNP |
| 19 | g.7122931A>G | CA403670831 | INSR | c.3317T>C (p.Met1106Thr) c.3281T>C (p.Met1094Thr) n.163T>C n.228T>C c.3392T>C (p.Met1131Thr) c.3356T>C (p.Met1119Thr) c.3314T>C (p.Met1105Thr) c.3278T>C (p.Met1093Thr) | |
| 19 | g.7122931A>T | CA403670832 | INSR | c.3317T>A (p.Met1106Lys) c.3281T>A (p.Met1094Lys) n.163T>A n.228T>A c.3392T>A (p.Met1131Lys) c.3356T>A (p.Met1119Lys) c.3314T>A (p.Met1105Lys) c.3278T>A (p.Met1093Lys) | |
| 19 | g.7122932T>A | CA403670833 | INSR | c.3316A>T (p.Met1106Leu) c.3280A>T (p.Met1094Leu) n.162A>T n.227A>T c.3391A>T (p.Met1131Leu) c.3355A>T (p.Met1119Leu) c.3313A>T (p.Met1105Leu) c.3277A>T (p.Met1093Leu) | gnomAD v4 |
| 19 | g.7122932T>C | CA403670834 | INSR | c.3316A>G (p.Met1106Val) c.3280A>G (p.Met1094Val) n.162A>G n.227A>G c.3391A>G (p.Met1131Val) c.3355A>G (p.Met1119Val) c.3313A>G (p.Met1105Val) c.3277A>G (p.Met1093Val) | |
| 19 | g.7122932T>G | CA403670835 | INSR | c.3316A>C (p.Met1106Leu) c.3280A>C (p.Met1094Leu) n.162A>C n.227A>C c.3391A>C (p.Met1131Leu) c.3355A>C (p.Met1119Leu) c.3313A>C (p.Met1105Leu) c.3277A>C (p.Met1093Leu) | |
| 19 | g.7122933C>A | CA505217082 | INSR | c.3315G>T (p.Leu1105=) c.3279G>T (p.Leu1093=) n.161G>T n.226G>T c.3390G>T (p.Leu1130=) c.3354G>T (p.Leu1118=) c.3312G>T (p.Leu1104=) c.3276G>T (p.Leu1092=) | dbSNP gnomAD v4 |
| 19 | g.7122933C>G | CA505217081 | INSR | c.3315G>C (p.Leu1105=) c.3279G>C (p.Leu1093=) n.161G>C n.226G>C c.3390G>C (p.Leu1130=) c.3354G>C (p.Leu1118=) c.3312G>C (p.Leu1104=) c.3276G>C (p.Leu1092=) | |
| 19 | g.7122933C>T | CA505217080 | INSR | c.3315G>A (p.Leu1105=) c.3279G>A (p.Leu1093=) n.161G>A n.226G>A c.3390G>A (p.Leu1130=) c.3354G>A (p.Leu1118=) c.3312G>A (p.Leu1104=) c.3276G>A (p.Leu1092=) | |
| 19 | g.7122934A>C | CA403670838 | INSR | c.3314T>G (p.Leu1105Arg) c.3278T>G (p.Leu1093Arg) n.160T>G n.225T>G c.3389T>G (p.Leu1130Arg) c.3353T>G (p.Leu1118Arg) c.3311T>G (p.Leu1104Arg) c.3275T>G (p.Leu1092Arg) | |
| 19 | g.7122934A>G | CA403670837 | INSR | c.3314T>C (p.Leu1105Pro) c.3278T>C (p.Leu1093Pro) n.160T>C n.225T>C c.3389T>C (p.Leu1130Pro) c.3353T>C (p.Leu1118Pro) c.3311T>C (p.Leu1104Pro) c.3275T>C (p.Leu1092Pro) | |
| 19 | g.7122934A>T | CA403670836 | INSR | c.3314T>A (p.Leu1105Gln) c.3278T>A (p.Leu1093Gln) n.160T>A n.225T>A c.3389T>A (p.Leu1130Gln) c.3353T>A (p.Leu1118Gln) c.3311T>A (p.Leu1104Gln) c.3275T>A (p.Leu1092Gln) | |
| 19 | g.7122935G>A | CA505217083 | INSR | c.3313C>T (p.Leu1105=) c.3277C>T (p.Leu1093=) n.159C>T n.224C>T c.3388C>T (p.Leu1130=) c.3352C>T (p.Leu1118=) c.3310C>T (p.Leu1104=) c.3274C>T (p.Leu1092=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7122935G>C | CA403670839 | INSR | c.3313C>G (p.Leu1105Val) c.3277C>G (p.Leu1093Val) n.159C>G n.224C>G c.3388C>G (p.Leu1130Val) c.3352C>G (p.Leu1118Val) c.3310C>G (p.Leu1104Val) c.3274C>G (p.Leu1092Val) | |
| 19 | g.7122935G= | CA2320766505 | INSR | c.3313C= (p.Leu1105=) c.3277C= (p.Leu1093=) n.159C= n.224C= c.3388C= (p.Leu1130=) c.3352C= (p.Leu1118=) c.3310C= (p.Leu1104=) c.3274C= (p.Leu1092=) | |
| 19 | g.7122935G>T | CA403670840 | INSR | c.3313C>A (p.Leu1105Met) c.3277C>A (p.Leu1093Met) n.159C>A n.224C>A c.3388C>A (p.Leu1130Met) c.3352C>A (p.Leu1118Met) c.3310C>A (p.Leu1104Met) c.3274C>A (p.Leu1092Met) | |
| 19 | g.7122936C>A | CA403670841 | INSR | c.3312G>T (p.Glu1104Asp) c.3276G>T (p.Glu1092Asp) n.158G>T n.223G>T c.3387G>T (p.Glu1129Asp) c.3351G>T (p.Glu1117Asp) c.3309G>T (p.Glu1103Asp) c.3273G>T (p.Glu1091Asp) | |
| 19 | g.7122936C= | CA2320766506 | INSR | c.3312G= (p.Glu1104=) c.3276G= (p.Glu1092=) n.158G= n.223G= c.3387G= (p.Glu1129=) c.3351G= (p.Glu1117=) c.3309G= (p.Glu1103=) c.3273G= (p.Glu1091=) | |
| 19 | g.7122936C>G | CA403670842 | INSR | c.3312G>C (p.Glu1104Asp) c.3276G>C (p.Glu1092Asp) n.158G>C n.223G>C c.3387G>C (p.Glu1129Asp) c.3351G>C (p.Glu1117Asp) c.3309G>C (p.Glu1103Asp) c.3273G>C (p.Glu1091Asp) | |
| 19 | g.7122936C>T | CA505217084 | INSR | c.3312G>A (p.Glu1104=) c.3276G>A (p.Glu1092=) n.158G>A n.223G>A c.3387G>A (p.Glu1129=) c.3351G>A (p.Glu1117=) c.3309G>A (p.Glu1103=) c.3273G>A (p.Glu1091=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7122937_7122938dup | CA2587921682 | INSR | c.3311_3312dup (p.Leu1105SerfsTer2) c.3275_3276dup (p.Leu1093SerfsTer2) n.157_158dup n.222_223dup c.3386_3387dup (p.Leu1130SerfsTer2) c.3350_3351dup (p.Leu1118SerfsTer2) c.3308_3309dup (p.Leu1104SerfsTer2) c.3272_3273dup (p.Leu1092SerfsTer2) | gnomAD v4 |
| 19 | g.7122937T>A | CA403670843 | INSR | c.3311A>T (p.Glu1104Val) c.3275A>T (p.Glu1092Val) n.157A>T n.222A>T c.3386A>T (p.Glu1129Val) c.3350A>T (p.Glu1117Val) c.3308A>T (p.Glu1103Val) c.3272A>T (p.Glu1091Val) | |
| 19 | g.7122937T>C | CA403670844 | INSR | c.3311A>G (p.Glu1104Gly) c.3275A>G (p.Glu1092Gly) n.157A>G n.222A>G c.3386A>G (p.Glu1129Gly) c.3350A>G (p.Glu1117Gly) c.3308A>G (p.Glu1103Gly) c.3272A>G (p.Glu1091Gly) | |
| 19 | g.7122937T>G | CA403670845 | INSR | c.3311A>C (p.Glu1104Ala) c.3275A>C (p.Glu1092Ala) n.157A>C n.222A>C c.3386A>C (p.Glu1129Ala) c.3350A>C (p.Glu1117Ala) c.3308A>C (p.Glu1103Ala) c.3272A>C (p.Glu1091Ala) | |
| 19 | g.7122938C>A | CA403670847 | INSR | c.3310G>T (p.Glu1104Ter) c.3274G>T (p.Glu1092Ter) n.156G>T n.221G>T c.3385G>T (p.Glu1129Ter) c.3349G>T (p.Glu1117Ter) c.3307G>T (p.Glu1103Ter) c.3271G>T (p.Glu1091Ter) | |
| 19 | g.7122938C>G | CA403670848 | INSR | c.3310G>C (p.Glu1104Gln) c.3274G>C (p.Glu1092Gln) n.156G>C n.221G>C c.3385G>C (p.Glu1129Gln) c.3349G>C (p.Glu1117Gln) c.3307G>C (p.Glu1103Gln) c.3271G>C (p.Glu1091Gln) | |
| 19 | g.7122938C>T | CA403670849 | INSR | c.3310G>A (p.Glu1104Lys) c.3274G>A (p.Glu1092Lys) n.156G>A n.221G>A c.3385G>A (p.Glu1129Lys) c.3349G>A (p.Glu1117Lys) c.3307G>A (p.Glu1103Lys) c.3271G>A (p.Glu1091Lys) | gnomAD v4 |
| 19 | g.7122939C>A | CA403670850 | INSR | c.3309G>T (p.Met1103Ile) c.3273G>T (p.Met1091Ile) n.155G>T n.220G>T c.3384G>T (p.Met1128Ile) c.3348G>T (p.Met1116Ile) c.3306G>T (p.Met1102Ile) c.3270G>T (p.Met1090Ile) | gnomAD v4 |
| 19 | g.7122939C>G | CA403670851 | INSR | c.3309G>C (p.Met1103Ile) c.3273G>C (p.Met1091Ile) n.155G>C n.220G>C c.3384G>C (p.Met1128Ile) c.3348G>C (p.Met1116Ile) c.3306G>C (p.Met1102Ile) c.3270G>C (p.Met1090Ile) | |
| 19 | g.7122939C>T | CA403670852 | INSR | c.3309G>A (p.Met1103Ile) c.3273G>A (p.Met1091Ile) n.155G>A n.220G>A c.3384G>A (p.Met1128Ile) c.3348G>A (p.Met1116Ile) c.3306G>A (p.Met1102Ile) c.3270G>A (p.Met1090Ile) | |
| 19 | g.7122940A= | CA2320766507 | INSR | c.3308T= (p.Met1103=) c.3272T= (p.Met1091=) n.154T= n.219T= c.3383T= (p.Met1128=) c.3347T= (p.Met1116=) c.3305T= (p.Met1102=) c.3269T= (p.Met1090=) | |
| 19 | g.7122940A>C | CA403670855 | INSR | c.3308T>G (p.Met1103Arg) c.3272T>G (p.Met1091Arg) n.154T>G n.219T>G c.3383T>G (p.Met1128Arg) c.3347T>G (p.Met1116Arg) c.3305T>G (p.Met1102Arg) c.3269T>G (p.Met1090Arg) | |
| 19 | g.7122940A>G | CA403670854 | INSR | c.3308T>C (p.Met1103Thr) c.3272T>C (p.Met1091Thr) n.154T>C n.219T>C c.3383T>C (p.Met1128Thr) c.3347T>C (p.Met1116Thr) c.3305T>C (p.Met1102Thr) c.3269T>C (p.Met1090Thr) | dbSNP gnomAD v2 |
| 19 | g.7122940A>T | CA403670853 | INSR | c.3308T>A (p.Met1103Lys) c.3272T>A (p.Met1091Lys) n.154T>A n.219T>A c.3383T>A (p.Met1128Lys) c.3347T>A (p.Met1116Lys) c.3305T>A (p.Met1102Lys) c.3269T>A (p.Met1090Lys) | |
| 19 | g.7122941T>A | CA403670858 | INSR | c.3307A>T (p.Met1103Leu) c.3271A>T (p.Met1091Leu) n.153A>T n.218A>T c.3382A>T (p.Met1128Leu) c.3346A>T (p.Met1116Leu) c.3304A>T (p.Met1102Leu) c.3268A>T (p.Met1090Leu) | |
| 19 | g.7122941T>C | CA403670856 | INSR | c.3307A>G (p.Met1103Val) c.3271A>G (p.Met1091Val) n.153A>G n.218A>G c.3382A>G (p.Met1128Val) c.3346A>G (p.Met1116Val) c.3304A>G (p.Met1102Val) c.3268A>G (p.Met1090Val) | |
| 19 | g.7122941T>G | CA403670857 | INSR | c.3307A>C (p.Met1103Leu) c.3271A>C (p.Met1091Leu) n.153A>C n.218A>C c.3382A>C (p.Met1128Leu) c.3346A>C (p.Met1116Leu) c.3304A>C (p.Met1102Leu) c.3268A>C (p.Met1090Leu) | |
| 19 | g.7122942C>A | CA505217085 | INSR | c.3306G>T (p.Val1102=) c.3270G>T (p.Val1090=) n.152G>T n.217G>T c.3381G>T (p.Val1127=) c.3345G>T (p.Val1115=) c.3303G>T (p.Val1101=) c.3267G>T (p.Val1089=) | gnomAD v4 |