WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50720285_50720365del | CA2657582781 | SHANK3 | c.2053_2133del (p.Gln685_Pro711del) n.2637_2717del c.1105_1185del (p.Gln369_Pro395del) c.595_675del (p.Gln199_Pro225del) c.*1051_*1131del (n.*1051_*1131del) c.2449_2529del (p.Gln817_Pro843del) c.2431_2511del (p.Gln811_Pro837del) | gnomAD v4 |
| 22 | g.50720299_50720355del | CA2657582845 | SHANK3 | c.2067_2123del (p.Pro690_Pro708del) n.2651_2707del c.1119_1175del (p.Pro374_Pro392del) c.609_665del (p.Pro204_Pro222del) c.*1065_*1121del (n.*1065_*1121del) c.2463_2519del (p.Pro822_Pro840del) c.2445_2501del (p.Pro816_Pro834del) | gnomAD v4 |
| 22 | g.50720308_50720364del | CA1026671807 | SHANK3 | c.2076_2132del (p.Ala693_Pro711del) n.2660_2716del c.1128_1184del (p.Ala377_Pro395del) c.618_674del (p.Ala207_Pro225del) c.*1074_*1130del (n.*1074_*1130del) c.2472_2528del (p.Ala825_Pro843del) c.2454_2510del (p.Ala819_Pro837del) | gnomAD v3 gnomAD v4 |
| 22 | g.50720331_50720352delinsGGCCGCCCCCGGCCTTCTCGCC | CA2411007564 | SHANK3 | c.2099_2120delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly700=) n.2683_2704delinsGGCCGCCCCCGGCCTTCTCGCC c.1151_1172delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly384=) c.641_662delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly214=) c.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC (n.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC) c.2495_2516delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly832=) c.2477_2498delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly826=) | |
| 22 | g.50720342_50720362dup | CA754092439 | SHANK3 | c.2110_2130dup (p.Pro710_Pro711insAlaPheSerProProProPro) n.2694_2714dup c.1162_1182dup (p.Pro394_Pro395insAlaPheSerProProProPro) c.652_672dup (p.Pro224_Pro225insAlaPheSerProProProPro) c.*1108_*1128dup (n.*1108_*1128dup) c.2506_2526dup (p.Pro842_Pro843insAlaPheSerProProProPro) c.2488_2508dup (p.Pro836_Pro837insAlaPheSerProProProPro) | dbSNP gnomAD v4 |
| 22 | g.50720342_50720362del | CA2411007565 | SHANK3 | c.2110_2130del (p.Ala704_Pro710del) n.2694_2714del c.1162_1182del (p.Ala388_Pro394del) c.652_672del (p.Ala218_Pro224del) c.*1108_*1128del (n.*1108_*1128del) c.2506_2526del (p.Ala836_Pro842del) c.2488_2508del (p.Ala830_Pro836del) | dbSNP gnomAD v4 |
| 22 | g.50720344_50720364del | CA2657582994 | SHANK3 | c.2112_2132del (p.Phe705_Pro711del) n.2696_2716del c.1164_1184del (p.Phe389_Pro395del) c.654_674del (p.Phe219_Pro225del) c.*1110_*1130del (n.*1110_*1130del) c.2508_2528del (p.Phe837_Pro843del) c.2490_2510del (p.Phe831_Pro837del) | gnomAD v4 |
| 22 | g.50720346del | CA2657583000 | SHANK3 | c.2114del (p.Phe705SerfsTer?) n.2698del c.1166del (p.Phe389SerfsTer?) c.656del (p.Phe219SerfsTer?) c.*1112del (n.*1112del) c.2510del (p.Phe837SerfsTer?) c.2492del (p.Phe831SerfsTer?) | gnomAD v4 |
| 22 | g.50720346T>A | CA515259001 | SHANK3 | c.2114T>A (p.Phe705Tyr) n.2698T>A c.1166T>A (p.Phe389Tyr) c.656T>A (p.Phe219Tyr) c.*1112T>A (n.*1112T>A) c.2510T>A (p.Phe837Tyr) c.2492T>A (p.Phe831Tyr) | |
| 22 | g.50720346T>C | CA515258999 | SHANK3 | c.2114T>C (p.Phe705Ser) n.2698T>C c.1166T>C (p.Phe389Ser) c.656T>C (p.Phe219Ser) c.*1112T>C (n.*1112T>C) c.2510T>C (p.Phe837Ser) c.2492T>C (p.Phe831Ser) | gnomAD v4 |
| 22 | g.50720346T>G | CA515259000 | SHANK3 | c.2114T>G (p.Phe705Cys) n.2698T>G c.1166T>G (p.Phe389Cys) c.656T>G (p.Phe219Cys) c.*1112T>G (n.*1112T>G) c.2510T>G (p.Phe837Cys) c.2492T>G (p.Phe831Cys) | |
| 22 | g.50720347C>A | CA515259002 | SHANK3 | c.2115C>A (p.Phe705Leu) n.2699C>A c.1167C>A (p.Phe389Leu) c.657C>A (p.Phe219Leu) c.*1113C>A (n.*1113C>A) c.2511C>A (p.Phe837Leu) c.2493C>A (p.Phe831Leu) | gnomAD v4 |
| 22 | g.50720347C>G | CA515259003 | SHANK3 | c.2115C>G (p.Phe705Leu) n.2699C>G c.1167C>G (p.Phe389Leu) c.657C>G (p.Phe219Leu) c.*1113C>G (n.*1113C>G) c.2511C>G (p.Phe837Leu) c.2493C>G (p.Phe831Leu) | gnomAD v4 |
| 22 | g.50720347C>T | CA515259004 | SHANK3 | c.2115C>T (p.Phe705=) n.2699C>T c.1167C>T (p.Phe389=) c.657C>T (p.Phe219=) c.*1113C>T (n.*1113C>T) c.2511C>T (p.Phe837=) c.2493C>T (p.Phe831=) | gnomAD v4 |
| 22 | g.50720348T>A | CA515259005 | SHANK3 | c.2116T>A (p.Ser706Thr) n.2700T>A c.1168T>A (p.Ser390Thr) c.658T>A (p.Ser220Thr) c.*1114T>A (n.*1114T>A) c.2512T>A (p.Ser838Thr) c.2494T>A (p.Ser832Thr) | gnomAD v4 |
| 22 | g.50720348T>C | CA515259006 | SHANK3 | c.2116T>C (p.Ser706Pro) n.2700T>C c.1168T>C (p.Ser390Pro) c.658T>C (p.Ser220Pro) c.*1114T>C (n.*1114T>C) c.2512T>C (p.Ser838Pro) c.2494T>C (p.Ser832Pro) | gnomAD v4 |
| 22 | g.50720348T>G | CA515259007 | SHANK3 | c.2116T>G (p.Ser706Ala) n.2700T>G c.1168T>G (p.Ser390Ala) c.658T>G (p.Ser220Ala) c.*1114T>G (n.*1114T>G) c.2512T>G (p.Ser838Ala) c.2494T>G (p.Ser832Ala) | |
| 22 | g.50720349C>A | CA515259008 | SHANK3 | c.2117C>A (p.Ser706Ter) n.2701C>A c.1169C>A (p.Ser390Ter) c.659C>A (p.Ser220Ter) c.*1115C>A (n.*1115C>A) c.2513C>A (p.Ser838Ter) c.2495C>A (p.Ser832Ter) | gnomAD v4 |
| 22 | g.50720349C= | CA2411007572 | SHANK3 | c.2117C= (p.Ser706=) n.2701C= c.1169C= (p.Ser390=) c.659C= (p.Ser220=) c.*1115C= (n.*1115C=) c.2513C= (p.Ser838=) c.2495C= (p.Ser832=) | |
| 22 | g.50720349C>G | CA515259009 | SHANK3 | c.2117C>G (p.Ser706Trp) n.2701C>G c.1169C>G (p.Ser390Trp) c.659C>G (p.Ser220Trp) c.*1115C>G (n.*1115C>G) c.2513C>G (p.Ser838Trp) c.2495C>G (p.Ser832Trp) | |
| 22 | g.50720349C>T | CA515259010 | SHANK3 | c.2117C>T (p.Ser706Leu) n.2701C>T c.1169C>T (p.Ser390Leu) c.659C>T (p.Ser220Leu) c.*1115C>T (n.*1115C>T) c.2513C>T (p.Ser838Leu) c.2495C>T (p.Ser832Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720356_50720358dup | CA2577768679 | SHANK3 | c.2124_2126dup (p.Pro709_Pro710insPro) n.2708_2710dup c.1176_1178dup (p.Pro393_Pro394insPro) c.666_668dup (p.Pro223_Pro224insPro) c.*1122_*1124dup (n.*1122_*1124dup) c.2520_2522dup (p.Pro841_Pro842insPro) c.2502_2504dup (p.Pro835_Pro836insPro) | |
| 22 | g.50720356_50720358del | CA2657583013 | SHANK3 | c.2124_2126del (p.Pro709del) n.2708_2710del c.1176_1178del (p.Pro393del) c.666_668del (p.Pro223del) c.*1122_*1124del (n.*1122_*1124del) c.2520_2522del (p.Pro841del) c.2502_2504del (p.Pro835del) | gnomAD v4 |
| 22 | g.50720350G>A | CA515259011 | SHANK3 | c.2118G>A (p.Ser706=) n.2702G>A c.1170G>A (p.Ser390=) c.660G>A (p.Ser220=) c.*1116G>A (n.*1116G>A) c.2514G>A (p.Ser838=) c.2496G>A (p.Ser832=) | dbSNP gnomAD v4 |
| 22 | g.50720350G>C | CA515259012 | SHANK3 | c.2118G>C (p.Ser706=) n.2702G>C c.1170G>C (p.Ser390=) c.660G>C (p.Ser220=) c.*1116G>C (n.*1116G>C) c.2514G>C (p.Ser838=) c.2496G>C (p.Ser832=) | gnomAD v4 |
| 22 | g.50720350G= | CA2411007573 | SHANK3 | c.2118G= (p.Ser706=) n.2702G= c.1170G= (p.Ser390=) c.660G= (p.Ser220=) c.*1116G= (n.*1116G=) c.2514G= (p.Ser838=) c.2496G= (p.Ser832=) | |
| 22 | g.50720350G>T | CA515259013 | SHANK3 | c.2118G>T (p.Ser706=) n.2702G>T c.1170G>T (p.Ser390=) c.660G>T (p.Ser220=) c.*1116G>T (n.*1116G>T) c.2514G>T (p.Ser838=) c.2496G>T (p.Ser832=) | gnomAD v4 |
| 22 | g.50720351C>A | CA515259016 | SHANK3 | c.2119C>A (p.Pro707Thr) n.2703C>A c.1171C>A (p.Pro391Thr) c.661C>A (p.Pro221Thr) c.*1117C>A (n.*1117C>A) c.2515C>A (p.Pro839Thr) c.2497C>A (p.Pro833Thr) | gnomAD v4 |
| 22 | g.50720351C>G | CA515259015 | SHANK3 | c.2119C>G (p.Pro707Ala) n.2703C>G c.1171C>G (p.Pro391Ala) c.661C>G (p.Pro221Ala) c.*1117C>G (n.*1117C>G) c.2515C>G (p.Pro839Ala) c.2497C>G (p.Pro833Ala) | |
| 22 | g.50720351C>T | CA515259014 | SHANK3 | c.2119C>T (p.Pro707Ser) n.2703C>T c.1171C>T (p.Pro391Ser) c.661C>T (p.Pro221Ser) c.*1117C>T (n.*1117C>T) c.2515C>T (p.Pro839Ser) c.2497C>T (p.Pro833Ser) | gnomAD v4 |
| 22 | g.50720352C>A | CA515259019 | SHANK3 | c.2120C>A (p.Pro707Gln) n.2704C>A c.1172C>A (p.Pro391Gln) c.662C>A (p.Pro221Gln) c.*1118C>A (n.*1118C>A) c.2516C>A (p.Pro839Gln) c.2498C>A (p.Pro833Gln) | gnomAD v4 |
| 22 | g.50720352C>G | CA515259017 | SHANK3 | c.2120C>G (p.Pro707Arg) n.2704C>G c.1172C>G (p.Pro391Arg) c.662C>G (p.Pro221Arg) c.*1118C>G (n.*1118C>G) c.2516C>G (p.Pro839Arg) c.2498C>G (p.Pro833Arg) | |
| 22 | g.50720352C>T | CA515259018 | SHANK3 | c.2120C>T (p.Pro707Leu) n.2704C>T c.1172C>T (p.Pro391Leu) c.662C>T (p.Pro221Leu) c.*1118C>T (n.*1118C>T) c.2516C>T (p.Pro839Leu) c.2498C>T (p.Pro833Leu) | gnomAD v4 |
| 22 | g.50720353G>A | CA515259020 | SHANK3 | c.2121G>A (p.Pro707=) n.2705G>A c.1173G>A (p.Pro391=) c.663G>A (p.Pro221=) c.*1119G>A (n.*1119G>A) c.2517G>A (p.Pro839=) c.2499G>A (p.Pro833=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720353G>C | CA515259021 | SHANK3 | c.2121G>C (p.Pro707=) n.2705G>C c.1173G>C (p.Pro391=) c.663G>C (p.Pro221=) c.*1119G>C (n.*1119G>C) c.2517G>C (p.Pro839=) c.2499G>C (p.Pro833=) | gnomAD v4 |
| 22 | g.50720353G= | CA2411007574 | SHANK3 | c.2121G= (p.Pro707=) n.2705G= c.1173G= (p.Pro391=) c.663G= (p.Pro221=) c.*1119G= (n.*1119G=) c.2517G= (p.Pro839=) c.2499G= (p.Pro833=) | |
| 22 | g.50720353G>T | CA515259022 | SHANK3 | c.2121G>T (p.Pro707=) n.2705G>T c.1173G>T (p.Pro391=) c.663G>T (p.Pro221=) c.*1119G>T (n.*1119G>T) c.2517G>T (p.Pro839=) c.2499G>T (p.Pro833=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720354C>A | CA515259025 | SHANK3 | c.2122C>A (p.Pro708Thr) n.2706C>A c.1174C>A (p.Pro392Thr) c.664C>A (p.Pro222Thr) c.*1120C>A (n.*1120C>A) c.2518C>A (p.Pro840Thr) c.2500C>A (p.Pro834Thr) | gnomAD v4 |
| 22 | g.50720354C>G | CA515259024 | SHANK3 | c.2122C>G (p.Pro708Ala) n.2706C>G c.1174C>G (p.Pro392Ala) c.664C>G (p.Pro222Ala) c.*1120C>G (n.*1120C>G) c.2518C>G (p.Pro840Ala) c.2500C>G (p.Pro834Ala) | gnomAD v4 |
| 22 | g.50720354C>T | CA515259023 | SHANK3 | c.2122C>T (p.Pro708Ser) n.2706C>T c.1174C>T (p.Pro392Ser) c.664C>T (p.Pro222Ser) c.*1120C>T (n.*1120C>T) c.2518C>T (p.Pro840Ser) c.2500C>T (p.Pro834Ser) | gnomAD v4 |
| 22 | g.50720359_50720364dup | CA2657583024 | SHANK3 | c.2127_2132dup (p.Pro711_Gly712insProPro) n.2711_2716dup c.1179_1184dup (p.Pro395_Gly396insProPro) c.669_674dup (p.Pro225_Gly226insProPro) c.*1125_*1130dup (n.*1125_*1130dup) c.2523_2528dup (p.Pro843_Gly844insProPro) c.2505_2510dup (p.Pro837_Gly838insProPro) | gnomAD v4 |
| 22 | g.50720355C>A | CA515259026 | SHANK3 | c.2123C>A (p.Pro708Gln) n.2707C>A c.1175C>A (p.Pro392Gln) c.665C>A (p.Pro222Gln) c.*1121C>A (n.*1121C>A) c.2519C>A (p.Pro840Gln) c.2501C>A (p.Pro834Gln) | dbSNP gnomAD v4 |
| 22 | g.50720355C= | CA2411007575 | SHANK3 | c.2123C= (p.Pro708=) n.2707C= c.1175C= (p.Pro392=) c.665C= (p.Pro222=) c.*1121C= (n.*1121C=) c.2519C= (p.Pro840=) c.2501C= (p.Pro834=) | |
| 22 | g.50720355C>G | CA515259027 | SHANK3 | c.2123C>G (p.Pro708Arg) n.2707C>G c.1175C>G (p.Pro392Arg) c.665C>G (p.Pro222Arg) c.*1121C>G (n.*1121C>G) c.2519C>G (p.Pro840Arg) c.2501C>G (p.Pro834Arg) | gnomAD v4 |
| 22 | g.50720355C>T | CA515259028 | SHANK3 | c.2123C>T (p.Pro708Leu) n.2707C>T c.1175C>T (p.Pro392Leu) c.665C>T (p.Pro222Leu) c.*1121C>T (n.*1121C>T) c.2519C>T (p.Pro840Leu) c.2501C>T (p.Pro834Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50720356_50720357del | CA2657583028 | SHANK3 | c.2124_2125del (p.Pro710AlafsTer?) n.2708_2709del c.1176_1177del (p.Pro394AlafsTer?) c.666_667del (p.Pro224AlafsTer?) c.*1122_*1123del (n.*1122_*1123del) c.2520_2521del (p.Pro842AlafsTer?) c.2502_2503del (p.Pro836AlafsTer?) | gnomAD v4 |
| 22 | g.50720356del | CA2657583029 | SHANK3 | c.2124del (p.Pro710ArgfsTer?) n.2708del c.1176del (p.Pro394ArgfsTer?) c.666del (p.Pro224ArgfsTer?) c.*1122del (n.*1122del) c.2520del (p.Pro842ArgfsTer?) c.2502del (p.Pro836ArgfsTer?) | gnomAD v4 |
| 22 | g.50720356G>A | CA325578056 | SHANK3 | c.2124G>A (p.Pro708=) n.2708G>A c.1176G>A (p.Pro392=) c.666G>A (p.Pro222=) c.*1122G>A (n.*1122G>A) c.2520G>A (p.Pro840=) c.2502G>A (p.Pro834=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720356G>C | CA515259029 | SHANK3 | c.2124G>C (p.Pro708=) n.2708G>C c.1176G>C (p.Pro392=) c.666G>C (p.Pro222=) c.*1122G>C (n.*1122G>C) c.2520G>C (p.Pro840=) c.2502G>C (p.Pro834=) | gnomAD v4 |
| 22 | g.50720356G= | CA2411007576 | SHANK3 | c.2124G= (p.Pro708=) n.2708G= c.1176G= (p.Pro392=) c.666G= (p.Pro222=) c.*1122G= (n.*1122G=) c.2520G= (p.Pro840=) c.2502G= (p.Pro834=) |