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.50720428_50720433dup | CA754092511 | SHANK3 | c.2196_2201dup (p.Ala734_Ala735insGlyAla) n.2780_2785dup c.1248_1253dup (p.Ala418_Ala419insGlyAla) c.738_743dup (p.Ala248_Ala249insGlyAla) c.*1194_*1199dup (n.*1194_*1199dup) c.2592_2597dup (p.Ala866_Ala867insGlyAla) c.2574_2579dup (p.Ala860_Ala861insGlyAla) | dbSNP gnomAD v3 gnomAD v4 |
| 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.50720426_50720440del | CA2819315490 | SHANK3 | c.2194_2208del (p.Ala732_Gly736del) n.2778_2792del c.1246_1260del (p.Ala416_Gly420del) c.736_750del (p.Ala246_Gly250del) c.*1192_*1206del (n.*1192_*1206del) c.2590_2604del (p.Ala864_Gly868del) c.2572_2586del (p.Ala858_Gly862del) | |
| 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.50720430del | CA2657583141 | SHANK3 | c.2198del (p.Gly733AlafsTer27) n.2782del c.1250del (p.Gly417AlafsTer27) c.740del (p.Gly247AlafsTer27) c.*1196del (n.*1196del) c.2594del (p.Gly865AlafsTer27) c.2576del (p.Gly859AlafsTer27) | gnomAD v4 |
| 22 | g.50720430G>A | CA515259245 | SHANK3 | c.2198G>A (p.Gly733Asp) n.2782G>A c.1250G>A (p.Gly417Asp) c.740G>A (p.Gly247Asp) c.*1196G>A (n.*1196G>A) c.2594G>A (p.Gly865Asp) c.2576G>A (p.Gly859Asp) | gnomAD v4 |
| 22 | g.50720430G>C | CA515259244 | SHANK3 | c.2198G>C (p.Gly733Ala) n.2782G>C c.1250G>C (p.Gly417Ala) c.740G>C (p.Gly247Ala) c.*1196G>C (n.*1196G>C) c.2594G>C (p.Gly865Ala) c.2576G>C (p.Gly859Ala) | gnomAD v4 |
| 22 | g.50720430G>T | CA515259243 | SHANK3 | c.2198G>T (p.Gly733Val) n.2782G>T c.1250G>T (p.Gly417Val) c.740G>T (p.Gly247Val) c.*1196G>T (n.*1196G>T) c.2594G>T (p.Gly865Val) c.2576G>T (p.Gly859Val) | gnomAD v4 |
| 22 | g.50720431C>A | CA515259246 | SHANK3 | c.2199C>A (p.Gly733=) n.2783C>A c.1251C>A (p.Gly417=) c.741C>A (p.Gly247=) c.*1197C>A (n.*1197C>A) c.2595C>A (p.Gly865=) c.2577C>A (p.Gly859=) | gnomAD v4 |
| 22 | g.50720431C>G | CA515259247 | SHANK3 | c.2199C>G (p.Gly733=) n.2783C>G c.1251C>G (p.Gly417=) c.741C>G (p.Gly247=) c.*1197C>G (n.*1197C>G) c.2595C>G (p.Gly865=) c.2577C>G (p.Gly859=) | gnomAD v4 |
| 22 | g.50720431C>T | CA515259248 | SHANK3 | c.2199C>T (p.Gly733=) n.2783C>T c.1251C>T (p.Gly417=) c.741C>T (p.Gly247=) c.*1197C>T (n.*1197C>T) c.2595C>T (p.Gly865=) c.2577C>T (p.Gly859=) | gnomAD v4 |
| 22 | g.50720432G>A | CA515259249 | SHANK3 | c.2200G>A (p.Ala734Thr) n.2784G>A c.1252G>A (p.Ala418Thr) c.742G>A (p.Ala248Thr) c.*1198G>A (n.*1198G>A) c.2596G>A (p.Ala866Thr) c.2578G>A (p.Ala860Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720432G>C | CA515259250 | SHANK3 | c.2200G>C (p.Ala734Pro) n.2784G>C c.1252G>C (p.Ala418Pro) c.742G>C (p.Ala248Pro) c.*1198G>C (n.*1198G>C) c.2596G>C (p.Ala866Pro) c.2578G>C (p.Ala860Pro) | |
| 22 | g.50720432G= | CA2411007615 | SHANK3 | c.2200G= (p.Ala734=) n.2784G= c.1252G= (p.Ala418=) c.742G= (p.Ala248=) c.*1198G= (n.*1198G=) c.2596G= (p.Ala866=) c.2578G= (p.Ala860=) | |
| 22 | g.50720432G>T | CA515259251 | SHANK3 | c.2200G>T (p.Ala734Ser) n.2784G>T c.1252G>T (p.Ala418Ser) c.742G>T (p.Ala248Ser) c.*1198G>T (n.*1198G>T) c.2596G>T (p.Ala866Ser) c.2578G>T (p.Ala860Ser) | gnomAD v4 |
| 22 | g.50720433C>A | CA515259252 | SHANK3 | c.2201C>A (p.Ala734Asp) n.2785C>A c.1253C>A (p.Ala418Asp) c.743C>A (p.Ala248Asp) c.*1199C>A (n.*1199C>A) c.2597C>A (p.Ala866Asp) c.2579C>A (p.Ala860Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720433C= | CA2411007616 | SHANK3 | c.2201C= (p.Ala734=) n.2785C= c.1253C= (p.Ala418=) c.743C= (p.Ala248=) c.*1199C= (n.*1199C=) c.2597C= (p.Ala866=) c.2579C= (p.Ala860=) | |
| 22 | g.50720433C>G | CA515259253 | SHANK3 | c.2201C>G (p.Ala734Gly) n.2785C>G c.1253C>G (p.Ala418Gly) c.743C>G (p.Ala248Gly) c.*1199C>G (n.*1199C>G) c.2597C>G (p.Ala866Gly) c.2579C>G (p.Ala860Gly) | gnomAD v4 |
| 22 | g.50720433C>T | CA515259254 | SHANK3 | c.2201C>T (p.Ala734Val) n.2785C>T c.1253C>T (p.Ala418Val) c.743C>T (p.Ala248Val) c.*1199C>T (n.*1199C>T) c.2597C>T (p.Ala866Val) c.2579C>T (p.Ala860Val) | dbSNP gnomAD v4 |
| 22 | g.50720434T>A | CA515259255 | SHANK3 | c.2202T>A (p.Ala734=) n.2786T>A c.1254T>A (p.Ala418=) c.744T>A (p.Ala248=) c.*1200T>A (n.*1200T>A) c.2598T>A (p.Ala866=) c.2580T>A (p.Ala860=) | |
| 22 | g.50720434T>C | CA515259256 | SHANK3 | c.2202T>C (p.Ala734=) n.2786T>C c.1254T>C (p.Ala418=) c.744T>C (p.Ala248=) c.*1200T>C (n.*1200T>C) c.2598T>C (p.Ala866=) c.2580T>C (p.Ala860=) | gnomAD v4 |
| 22 | g.50720434T>G | CA515259257 | SHANK3 | c.2202T>G (p.Ala734=) n.2786T>G c.1254T>G (p.Ala418=) c.744T>G (p.Ala248=) c.*1200T>G (n.*1200T>G) c.2598T>G (p.Ala866=) c.2580T>G (p.Ala860=) | |
| 22 | g.50720435G>A | CA515259260 | SHANK3 | c.2203G>A (p.Ala735Thr) n.2787G>A c.1255G>A (p.Ala419Thr) c.745G>A (p.Ala249Thr) c.*1201G>A (n.*1201G>A) c.2599G>A (p.Ala867Thr) c.2581G>A (p.Ala861Thr) | gnomAD v4 |
| 22 | g.50720435G>C | CA515259259 | SHANK3 | c.2203G>C (p.Ala735Pro) n.2787G>C c.1255G>C (p.Ala419Pro) c.745G>C (p.Ala249Pro) c.*1201G>C (n.*1201G>C) c.2599G>C (p.Ala867Pro) c.2581G>C (p.Ala861Pro) | gnomAD v4 |
| 22 | g.50720435G>T | CA515259258 | SHANK3 | c.2203G>T (p.Ala735Ser) n.2787G>T c.1255G>T (p.Ala419Ser) c.745G>T (p.Ala249Ser) c.*1201G>T (n.*1201G>T) c.2599G>T (p.Ala867Ser) c.2581G>T (p.Ala861Ser) | gnomAD v4 |
| 22 | g.50720435dup | CA1026671883 | SHANK3 | c.2203dup (p.Ala735GlyfsTer?) n.2787dup c.1255dup (p.Ala419GlyfsTer?) c.745dup (p.Ala249GlyfsTer?) c.*1201dup (n.*1201dup) c.2599dup (p.Ala867GlyfsTer?) c.2581dup (p.Ala861GlyfsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.50720438_50720441del | CA2657583146 | SHANK3 | c.2206_2209del (p.Gly736CysfsTer23) n.2790_2793del c.1258_1261del (p.Gly420CysfsTer23) c.748_751del (p.Gly250CysfsTer23) c.*1204_*1207del (n.*1204_*1207del) c.2602_2605del (p.Gly868CysfsTer23) c.2584_2587del (p.Gly862CysfsTer23) | gnomAD v4 |
| 22 | g.50720436C>A | CA515259261 | SHANK3 | c.2204C>A (p.Ala735Asp) n.2788C>A c.1256C>A (p.Ala419Asp) c.746C>A (p.Ala249Asp) c.*1202C>A (n.*1202C>A) c.2600C>A (p.Ala867Asp) c.2582C>A (p.Ala861Asp) | gnomAD v4 |
| 22 | g.50720436C>G | CA515259262 | SHANK3 | c.2204C>G (p.Ala735Gly) n.2788C>G c.1256C>G (p.Ala419Gly) c.746C>G (p.Ala249Gly) c.*1202C>G (n.*1202C>G) c.2600C>G (p.Ala867Gly) c.2582C>G (p.Ala861Gly) | |
| 22 | g.50720436C>T | CA515259263 | SHANK3 | c.2204C>T (p.Ala735Val) n.2788C>T c.1256C>T (p.Ala419Val) c.746C>T (p.Ala249Val) c.*1202C>T (n.*1202C>T) c.2600C>T (p.Ala867Val) c.2582C>T (p.Ala861Val) | gnomAD v3 gnomAD v4 |
| 22 | g.50720437C>A | CA515259264 | SHANK3 | c.2205C>A (p.Ala735=) n.2789C>A c.1257C>A (p.Ala419=) c.747C>A (p.Ala249=) c.*1203C>A (n.*1203C>A) c.2601C>A (p.Ala867=) c.2583C>A (p.Ala861=) | dbSNP gnomAD v4 |
| 22 | g.50720437C= | CA2411007617 | SHANK3 | c.2205C= (p.Ala735=) n.2789C= c.1257C= (p.Ala419=) c.747C= (p.Ala249=) c.*1203C= (n.*1203C=) c.2601C= (p.Ala867=) c.2583C= (p.Ala861=) | |
| 22 | g.50720437C>G | CA515259265 | SHANK3 | c.2205C>G (p.Ala735=) n.2789C>G c.1257C>G (p.Ala419=) c.747C>G (p.Ala249=) c.*1203C>G (n.*1203C>G) c.2601C>G (p.Ala867=) c.2583C>G (p.Ala861=) | gnomAD v4 |
| 22 | g.50720437C>T | CA515259266 | SHANK3 | c.2205C>T (p.Ala735=) n.2789C>T c.1257C>T (p.Ala419=) c.747C>T (p.Ala249=) c.*1203C>T (n.*1203C>T) c.2601C>T (p.Ala867=) c.2583C>T (p.Ala861=) | gnomAD v4 |
| 22 | g.50720437_50720438insCG | CA1026671884 | SHANK3 | c.2205_2206insCG (p.Gly736ArgfsTer25) n.2789_2790insCG c.1257_1258insCG (p.Gly420ArgfsTer25) c.747_748insCG (p.Gly250ArgfsTer25) c.*1203_*1204insCG (n.*1203_*1204insCG) c.2601_2602insCG (p.Gly868ArgfsTer25) c.2583_2584insCG (p.Gly862ArgfsTer25) | gnomAD v3 gnomAD v4 |
| 22 | g.50720438G>A | CA515259269 | SHANK3 | c.2206G>A (p.Gly736Ser) n.2790G>A c.1258G>A (p.Gly420Ser) c.748G>A (p.Gly250Ser) c.*1204G>A (n.*1204G>A) c.2602G>A (p.Gly868Ser) c.2584G>A (p.Gly862Ser) | gnomAD v3 gnomAD v4 |
| 22 | g.50720438G>C | CA515259268 | SHANK3 | c.2206G>C (p.Gly736Arg) n.2790G>C c.1258G>C (p.Gly420Arg) c.748G>C (p.Gly250Arg) c.*1204G>C (n.*1204G>C) c.2602G>C (p.Gly868Arg) c.2584G>C (p.Gly862Arg) | |
| 22 | g.50720438G>T | CA515259267 | SHANK3 | c.2206G>T (p.Gly736Cys) n.2790G>T c.1258G>T (p.Gly420Cys) c.748G>T (p.Gly250Cys) c.*1204G>T (n.*1204G>T) c.2602G>T (p.Gly868Cys) c.2584G>T (p.Gly862Cys) | gnomAD v4 |
| 22 | g.50720439G>A | CA515259270 | SHANK3 | c.2207G>A (p.Gly736Asp) n.2791G>A c.1259G>A (p.Gly420Asp) c.749G>A (p.Gly250Asp) c.*1205G>A (n.*1205G>A) c.2603G>A (p.Gly868Asp) c.2585G>A (p.Gly862Asp) | gnomAD v4 |
| 22 | g.50720439G>C | CA515259271 | SHANK3 | c.2207G>C (p.Gly736Ala) n.2791G>C c.1259G>C (p.Gly420Ala) c.749G>C (p.Gly250Ala) c.*1205G>C (n.*1205G>C) c.2603G>C (p.Gly868Ala) c.2585G>C (p.Gly862Ala) | gnomAD v4 |
| 22 | g.50720439G= | CA2411007618 | SHANK3 | c.2207G= (p.Gly736=) n.2791G= c.1259G= (p.Gly420=) c.749G= (p.Gly250=) c.*1205G= (n.*1205G=) c.2603G= (p.Gly868=) c.2585G= (p.Gly862=) | |
| 22 | g.50720439G>T | CA515259272 | SHANK3 | c.2207G>T (p.Gly736Val) n.2791G>T c.1259G>T (p.Gly420Val) c.749G>T (p.Gly250Val) c.*1205G>T (n.*1205G>T) c.2603G>T (p.Gly868Val) c.2585G>T (p.Gly862Val) | dbSNP gnomAD v4 |
| 22 | g.50720440C>A | CA515259273 | SHANK3 | c.2208C>A (p.Gly736=) n.2792C>A c.1260C>A (p.Gly420=) c.750C>A (p.Gly250=) c.*1206C>A (n.*1206C>A) c.2604C>A (p.Gly868=) c.2586C>A (p.Gly862=) | gnomAD v4 |
| 22 | g.50720440C>G | CA515259274 | SHANK3 | c.2208C>G (p.Gly736=) n.2792C>G c.1260C>G (p.Gly420=) c.750C>G (p.Gly250=) c.*1206C>G (n.*1206C>G) c.2604C>G (p.Gly868=) c.2586C>G (p.Gly862=) | gnomAD v4 |
| 22 | g.50720440C>T | CA515259275 | SHANK3 | c.2208C>T (p.Gly736=) n.2792C>T c.1260C>T (p.Gly420=) c.750C>T (p.Gly250=) c.*1206C>T (n.*1206C>T) c.2604C>T (p.Gly868=) c.2586C>T (p.Gly862=) | gnomAD v4 |
| 22 | g.50720441C>A | CA515259276 | SHANK3 | c.2209C>A (p.Leu737Met) n.2793C>A c.1261C>A (p.Leu421Met) c.751C>A (p.Leu251Met) c.*1207C>A (n.*1207C>A) c.2605C>A (p.Leu869Met) c.2587C>A (p.Leu863Met) | dbSNP gnomAD v4 |
| 22 | g.50720441C= | CA2411007619 | SHANK3 | c.2209C= (p.Leu737=) n.2793C= c.1261C= (p.Leu421=) c.751C= (p.Leu251=) c.*1207C= (n.*1207C=) c.2605C= (p.Leu869=) c.2587C= (p.Leu863=) | |
| 22 | g.50720441C>G | CA515259277 | SHANK3 | c.2209C>G (p.Leu737Val) n.2793C>G c.1261C>G (p.Leu421Val) c.751C>G (p.Leu251Val) c.*1207C>G (n.*1207C>G) c.2605C>G (p.Leu869Val) c.2587C>G (p.Leu863Val) | |
| 22 | g.50720441C>T | CA325578087 | SHANK3 | c.2209C>T (p.Leu737=) n.2793C>T c.1261C>T (p.Leu421=) c.751C>T (p.Leu251=) c.*1207C>T (n.*1207C>T) c.2605C>T (p.Leu869=) c.2587C>T (p.Leu863=) | dbSNP gnomAD v3 gnomAD v4 |