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 |
|---|---|---|---|---|---|
| 22 | g.50720430_50720459dup | CA640358963 | SHANK3 | c.2198_2227dup (p.Ala742_Ala743insGlyAlaAlaGlyLeuTyrGluProGlyAla) n.2782_2811dup c.1250_1279dup (p.Ala426_Ala427insGlyAlaAlaGlyLeuTyrGluProGlyAla) c.740_769dup (p.Ala256_Ala257insGlyAlaAlaGlyLeuTyrGluProGlyAla) c.*1196_*1225dup (n.*1196_*1225dup) c.2594_2623dup (p.Ala874_Ala875insGlyAlaAlaGlyLeuTyrGluProGlyAla) c.2576_2605dup (p.Ala868_Ala869insGlyAlaAlaGlyLeuTyrGluProGlyAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720430_50720459del | CA2657583131 | SHANK3 | c.2198_2227del (p.Gly733_Ala742del) n.2782_2811del c.1250_1279del (p.Gly417_Ala426del) c.740_769del (p.Gly247_Ala256del) c.*1196_*1225del (n.*1196_*1225del) c.2594_2623del (p.Gly865_Ala874del) c.2576_2605del (p.Gly859_Ala868del) | gnomAD v4 |
| 22 | g.50720434_50720457dup | CA2657583139 | SHANK3 | c.2202_2225dup (p.Ala742_Ala743insAlaGlyLeuTyrGluProGlyAla) n.2786_2809dup c.1254_1277dup (p.Ala426_Ala427insAlaGlyLeuTyrGluProGlyAla) c.744_767dup (p.Ala256_Ala257insAlaGlyLeuTyrGluProGlyAla) c.*1200_*1223dup (n.*1200_*1223dup) c.2598_2621dup (p.Ala874_Ala875insAlaGlyLeuTyrGluProGlyAla) c.2580_2603dup (p.Ala868_Ala869insAlaGlyLeuTyrGluProGlyAla) | gnomAD v4 |
| 22 | g.50720448_50720458del | CA2657583149 | SHANK3 | c.2216_2226del (p.Glu739GlyfsTer?) n.2800_2810del c.1268_1278del (p.Glu423GlyfsTer?) c.758_768del (p.Glu253GlyfsTer?) c.*1214_*1224del (n.*1214_*1224del) c.2612_2622del (p.Glu871GlyfsTer?) c.2594_2604del (p.Glu865GlyfsTer?) | gnomAD v4 |
| 22 | g.50720450C>A | CA515259300 | SHANK3 | c.2218C>A (p.Pro740Thr) n.2802C>A c.1270C>A (p.Pro424Thr) c.760C>A (p.Pro254Thr) c.*1216C>A (n.*1216C>A) c.2614C>A (p.Pro872Thr) c.2596C>A (p.Pro866Thr) | gnomAD v4 |
| 22 | g.50720450C= | CA2411007621 | SHANK3 | c.2218C= (p.Pro740=) n.2802C= c.1270C= (p.Pro424=) c.760C= (p.Pro254=) c.*1216C= (n.*1216C=) c.2614C= (p.Pro872=) c.2596C= (p.Pro866=) | |
| 22 | g.50720450C>G | CA515259301 | SHANK3 | c.2218C>G (p.Pro740Ala) n.2802C>G c.1270C>G (p.Pro424Ala) c.760C>G (p.Pro254Ala) c.*1216C>G (n.*1216C>G) c.2614C>G (p.Pro872Ala) c.2596C>G (p.Pro866Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720450C>T | CA515259302 | SHANK3 | c.2218C>T (p.Pro740Ser) n.2802C>T c.1270C>T (p.Pro424Ser) c.760C>T (p.Pro254Ser) c.*1216C>T (n.*1216C>T) c.2614C>T (p.Pro872Ser) c.2596C>T (p.Pro866Ser) | gnomAD v4 |
| 22 | g.50720451C>A | CA515259304 | SHANK3 | c.2219C>A (p.Pro740Gln) n.2803C>A c.1271C>A (p.Pro424Gln) c.761C>A (p.Pro254Gln) c.*1217C>A (n.*1217C>A) c.2615C>A (p.Pro872Gln) c.2597C>A (p.Pro866Gln) | gnomAD v4 |
| 22 | g.50720451C= | CA2411007622 | SHANK3 | c.2219C= (p.Pro740=) n.2803C= c.1271C= (p.Pro424=) c.761C= (p.Pro254=) c.*1217C= (n.*1217C=) c.2615C= (p.Pro872=) c.2597C= (p.Pro866=) | |
| 22 | g.50720451C>G | CA515259303 | SHANK3 | c.2219C>G (p.Pro740Arg) n.2803C>G c.1271C>G (p.Pro424Arg) c.761C>G (p.Pro254Arg) c.*1217C>G (n.*1217C>G) c.2615C>G (p.Pro872Arg) c.2597C>G (p.Pro866Arg) | gnomAD v4 |
| 22 | g.50720451C>T | CA325578107 | SHANK3 | c.2219C>T (p.Pro740Leu) n.2803C>T c.1271C>T (p.Pro424Leu) c.761C>T (p.Pro254Leu) c.*1217C>T (n.*1217C>T) c.2615C>T (p.Pro872Leu) c.2597C>T (p.Pro866Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720452G>A | CA515259305 | SHANK3 | c.2220G>A (p.Pro740=) n.2804G>A c.1272G>A (p.Pro424=) c.762G>A (p.Pro254=) c.*1218G>A (n.*1218G>A) c.2616G>A (p.Pro872=) c.2598G>A (p.Pro866=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720452G>C | CA515259306 | SHANK3 | c.2220G>C (p.Pro740=) n.2804G>C c.1272G>C (p.Pro424=) c.762G>C (p.Pro254=) c.*1218G>C (n.*1218G>C) c.2616G>C (p.Pro872=) c.2598G>C (p.Pro866=) | gnomAD v4 |
| 22 | g.50720452G= | CA2411007623 | SHANK3 | c.2220G= (p.Pro740=) n.2804G= c.1272G= (p.Pro424=) c.762G= (p.Pro254=) c.*1218G= (n.*1218G=) c.2616G= (p.Pro872=) c.2598G= (p.Pro866=) | |
| 22 | g.50720452G>T | CA515259307 | SHANK3 | c.2220G>T (p.Pro740=) n.2804G>T c.1272G>T (p.Pro424=) c.762G>T (p.Pro254=) c.*1218G>T (n.*1218G>T) c.2616G>T (p.Pro872=) c.2598G>T (p.Pro866=) | gnomAD v4 |
| 22 | g.50720454del | CA2657583150 | SHANK3 | c.2222del (p.Gly741AlafsTer19) n.2806del c.1274del (p.Gly425AlafsTer19) c.764del (p.Gly255AlafsTer19) c.*1220del (n.*1220del) c.2618del (p.Gly873AlafsTer19) c.2600del (p.Gly867AlafsTer19) | gnomAD v4 |
| 22 | g.50720453G>A | CA515259308 | SHANK3 | c.2221G>A (p.Gly741Ser) n.2805G>A c.1273G>A (p.Gly425Ser) c.763G>A (p.Gly255Ser) c.*1219G>A (n.*1219G>A) c.2617G>A (p.Gly873Ser) c.2599G>A (p.Gly867Ser) | gnomAD v4 |
| 22 | g.50720453G>C | CA515259309 | SHANK3 | c.2221G>C (p.Gly741Arg) n.2805G>C c.1273G>C (p.Gly425Arg) c.763G>C (p.Gly255Arg) c.*1219G>C (n.*1219G>C) c.2617G>C (p.Gly873Arg) c.2599G>C (p.Gly867Arg) | gnomAD v4 |
| 22 | g.50720453G>T | CA515259310 | SHANK3 | c.2221G>T (p.Gly741Cys) n.2805G>T c.1273G>T (p.Gly425Cys) c.763G>T (p.Gly255Cys) c.*1219G>T (n.*1219G>T) c.2617G>T (p.Gly873Cys) c.2599G>T (p.Gly867Cys) | gnomAD v4 |
| 22 | g.50720454G>A | CA515259311 | SHANK3 | c.2222G>A (p.Gly741Asp) n.2806G>A c.1274G>A (p.Gly425Asp) c.764G>A (p.Gly255Asp) c.*1220G>A (n.*1220G>A) c.2618G>A (p.Gly873Asp) c.2600G>A (p.Gly867Asp) | gnomAD v4 |
| 22 | g.50720454G>C | CA515259312 | SHANK3 | c.2222G>C (p.Gly741Ala) n.2806G>C c.1274G>C (p.Gly425Ala) c.764G>C (p.Gly255Ala) c.*1220G>C (n.*1220G>C) c.2618G>C (p.Gly873Ala) c.2600G>C (p.Gly867Ala) | gnomAD v4 |
| 22 | g.50720454G>T | CA515259313 | SHANK3 | c.2222G>T (p.Gly741Val) n.2806G>T c.1274G>T (p.Gly425Val) c.764G>T (p.Gly255Val) c.*1220G>T (n.*1220G>T) c.2618G>T (p.Gly873Val) c.2600G>T (p.Gly867Val) | gnomAD v4 |
| 22 | g.50720455C>A | CA515259314 | SHANK3 | c.2223C>A (p.Gly741=) n.2807C>A c.1275C>A (p.Gly425=) c.765C>A (p.Gly255=) c.*1221C>A (n.*1221C>A) c.2619C>A (p.Gly873=) c.2601C>A (p.Gly867=) | gnomAD v4 |
| 22 | g.50720455C= | CA2411007624 | SHANK3 | c.2223C= (p.Gly741=) n.2807C= c.1275C= (p.Gly425=) c.765C= (p.Gly255=) c.*1221C= (n.*1221C=) c.2619C= (p.Gly873=) c.2601C= (p.Gly867=) | |
| 22 | g.50720455C>G | CA515259315 | SHANK3 | c.2223C>G (p.Gly741=) n.2807C>G c.1275C>G (p.Gly425=) c.765C>G (p.Gly255=) c.*1221C>G (n.*1221C>G) c.2619C>G (p.Gly873=) c.2601C>G (p.Gly867=) | gnomAD v4 |
| 22 | g.50720455C>T | CA515259316 | SHANK3 | c.2223C>T (p.Gly741=) n.2807C>T c.1275C>T (p.Gly425=) c.765C>T (p.Gly255=) c.*1221C>T (n.*1221C>T) c.2619C>T (p.Gly873=) c.2601C>T (p.Gly867=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720456G>A | CA515259319 | SHANK3 | c.2224G>A (p.Ala742Thr) n.2808G>A c.1276G>A (p.Ala426Thr) c.766G>A (p.Ala256Thr) c.*1222G>A (n.*1222G>A) c.2620G>A (p.Ala874Thr) c.2602G>A (p.Ala868Thr) | gnomAD v4 |
| 22 | g.50720456G>C | CA515259318 | SHANK3 | c.2224G>C (p.Ala742Pro) n.2808G>C c.1276G>C (p.Ala426Pro) c.766G>C (p.Ala256Pro) c.*1222G>C (n.*1222G>C) c.2620G>C (p.Ala874Pro) c.2602G>C (p.Ala868Pro) | gnomAD v4 |
| 22 | g.50720456G>T | CA515259317 | SHANK3 | c.2224G>T (p.Ala742Ser) n.2808G>T c.1276G>T (p.Ala426Ser) c.766G>T (p.Ala256Ser) c.*1222G>T (n.*1222G>T) c.2620G>T (p.Ala874Ser) c.2602G>T (p.Ala868Ser) | gnomAD v4 |
| 22 | g.50720457C>A | CA515259320 | SHANK3 | c.2225C>A (p.Ala742Glu) n.2809C>A c.1277C>A (p.Ala426Glu) c.767C>A (p.Ala256Glu) c.*1223C>A (n.*1223C>A) c.2621C>A (p.Ala874Glu) c.2603C>A (p.Ala868Glu) | gnomAD v4 |
| 22 | g.50720457C= | CA2411007625 | SHANK3 | c.2225C= (p.Ala742=) n.2809C= c.1277C= (p.Ala426=) c.767C= (p.Ala256=) c.*1223C= (n.*1223C=) c.2621C= (p.Ala874=) c.2603C= (p.Ala868=) | |
| 22 | g.50720457C>G | CA515259321 | SHANK3 | c.2225C>G (p.Ala742Gly) n.2809C>G c.1277C>G (p.Ala426Gly) c.767C>G (p.Ala256Gly) c.*1223C>G (n.*1223C>G) c.2621C>G (p.Ala874Gly) c.2603C>G (p.Ala868Gly) | ClinVar dbSNP |
| 22 | g.50720457C>T | CA14963183 | SHANK3 | c.2225C>T (p.Ala742Val) n.2809C>T c.1277C>T (p.Ala426Val) c.767C>T (p.Ala256Val) c.*1223C>T (n.*1223C>T) c.2621C>T (p.Ala874Val) c.2603C>T (p.Ala868Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720458G>A | CA515259322 | SHANK3 | c.2226G>A (p.Ala742=) n.2810G>A c.1278G>A (p.Ala426=) c.768G>A (p.Ala256=) c.*1224G>A (n.*1224G>A) c.2622G>A (p.Ala874=) c.2604G>A (p.Ala868=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720458G>C | CA515259324 | SHANK3 | c.2226G>C (p.Ala742=) n.2810G>C c.1278G>C (p.Ala426=) c.768G>C (p.Ala256=) c.*1224G>C (n.*1224G>C) c.2622G>C (p.Ala874=) c.2604G>C (p.Ala868=) | dbSNP gnomAD v4 |
| 22 | g.50720458G= | CA2411007626 | SHANK3 | c.2226G= (p.Ala742=) n.2810G= c.1278G= (p.Ala426=) c.768G= (p.Ala256=) c.*1224G= (n.*1224G=) c.2622G= (p.Ala874=) c.2604G= (p.Ala868=) | |
| 22 | g.50720458G>T | CA515259323 | SHANK3 | c.2226G>T (p.Ala742=) n.2810G>T c.1278G>T (p.Ala426=) c.768G>T (p.Ala256=) c.*1224G>T (n.*1224G>T) c.2622G>T (p.Ala874=) c.2604G>T (p.Ala868=) | dbSNP gnomAD v4 |
| 22 | g.50720459G>A | CA515259325 | SHANK3 | c.2227G>A (p.Ala743Thr) n.2811G>A c.1279G>A (p.Ala427Thr) c.769G>A (p.Ala257Thr) c.*1225G>A (n.*1225G>A) c.2623G>A (p.Ala875Thr) c.2605G>A (p.Ala869Thr) | gnomAD v4 |
| 22 | g.50720459G>C | CA515259327 | SHANK3 | c.2227G>C (p.Ala743Pro) n.2811G>C c.1279G>C (p.Ala427Pro) c.769G>C (p.Ala257Pro) c.*1225G>C (n.*1225G>C) c.2623G>C (p.Ala875Pro) c.2605G>C (p.Ala869Pro) | gnomAD v4 |
| 22 | g.50720459G>T | CA515259326 | SHANK3 | c.2227G>T (p.Ala743Ser) n.2811G>T c.1279G>T (p.Ala427Ser) c.769G>T (p.Ala257Ser) c.*1225G>T (n.*1225G>T) c.2623G>T (p.Ala875Ser) c.2605G>T (p.Ala869Ser) | gnomAD v4 |
| 22 | g.50720460C>A | CA515259328 | SHANK3 | c.2228C>A (p.Ala743Asp) n.2812C>A c.1280C>A (p.Ala427Asp) c.770C>A (p.Ala257Asp) c.*1226C>A (n.*1226C>A) c.2624C>A (p.Ala875Asp) c.2606C>A (p.Ala869Asp) | gnomAD v4 |
| 22 | g.50720460C>G | CA515259330 | SHANK3 | c.2228C>G (p.Ala743Gly) n.2812C>G c.1280C>G (p.Ala427Gly) c.770C>G (p.Ala257Gly) c.*1226C>G (n.*1226C>G) c.2624C>G (p.Ala875Gly) c.2606C>G (p.Ala869Gly) | gnomAD v4 |
| 22 | g.50720460C>T | CA515259329 | SHANK3 | c.2228C>T (p.Ala743Val) n.2812C>T c.1280C>T (p.Ala427Val) c.770C>T (p.Ala257Val) c.*1226C>T (n.*1226C>T) c.2624C>T (p.Ala875Val) c.2606C>T (p.Ala869Val) | gnomAD v4 |
| 22 | g.50720462del | CA2657583154 | SHANK3 | c.2230del (p.Leu744SerfsTer16) n.2814del c.1282del (p.Leu428SerfsTer16) c.772del (p.Leu258SerfsTer16) c.*1228del (n.*1228del) c.2626del (p.Leu876SerfsTer16) c.2608del (p.Leu870SerfsTer16) | gnomAD v4 |
| 22 | g.50720461C>A | CA515259331 | SHANK3 | c.2229C>A (p.Ala743=) n.2813C>A c.1281C>A (p.Ala427=) c.771C>A (p.Ala257=) c.*1227C>A (n.*1227C>A) c.2625C>A (p.Ala875=) c.2607C>A (p.Ala869=) | gnomAD v4 |
| 22 | g.50720461C>G | CA515259332 | SHANK3 | c.2229C>G (p.Ala743=) n.2813C>G c.1281C>G (p.Ala427=) c.771C>G (p.Ala257=) c.*1227C>G (n.*1227C>G) c.2625C>G (p.Ala875=) c.2607C>G (p.Ala869=) | gnomAD v4 |
| 22 | g.50720461C>T | CA515259333 | SHANK3 | c.2229C>T (p.Ala743=) n.2813C>T c.1281C>T (p.Ala427=) c.771C>T (p.Ala257=) c.*1227C>T (n.*1227C>T) c.2625C>T (p.Ala875=) c.2607C>T (p.Ala869=) | gnomAD v4 |
| 22 | g.50720462C>A | CA515259334 | SHANK3 | c.2230C>A (p.Leu744Ile) n.2814C>A c.1282C>A (p.Leu428Ile) c.772C>A (p.Leu258Ile) c.*1228C>A (n.*1228C>A) c.2626C>A (p.Leu876Ile) c.2608C>A (p.Leu870Ile) | gnomAD v4 |
| 22 | g.50720462C= | CA2411007627 | SHANK3 | c.2230C= (p.Leu744=) n.2814C= c.1282C= (p.Leu428=) c.772C= (p.Leu258=) c.*1228C= (n.*1228C=) c.2626C= (p.Leu876=) c.2608C= (p.Leu870=) |