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 |
|---|---|---|---|---|---|
| X | g.154030255_154037279delinsCACAAAGTG | CA274580 | MECP2 | c.27-4722_*112delinsCACTTTGTG c.63-4722_*112delinsCACTTTGTG c.27-4722_*39delinsCACTTTGTG c.27-4722_*945delinsCACTTTGTG c.-253-4722_*112delinsCACTTTGTG c.-254+2513_*112delinsCACTTTGTG c.-535+2513_*112delinsCACTTTGTG c.-534-4722_*112delinsCACTTTGTG | ClinVar |
| X | g.154030546_154032241del | CA2695202122 | MECP2 | c.343_1282del c.379_1318del c.343_*654del c.64_1003del c.-218_613del | |
| X | g.154030587_154034485del | CA1139667874 | MECP2 | c.27-1928_1241del c.63-1928_1277del c.27-1928_*613del c.-253-1928_962del c.-534-1928_572del | ClinVar |
| X | g.154030593_154038357del | CA2499226465 | MECP2 | c.27-5800_1235del c.63-5800_1271del c.27-5800_*607del c.-253-5800_956del c.-254+1435_956del c.-535+1435_566del c.-534-5800_566del | ClinVar |
| X | g.154030617_154032283del | CA2573159384 | MECP2 | c.301_1211del c.337_1247del c.337_*583del c.301_*583del c.22_932del c.-260_542del | ClinVar |
| X | g.154030623_154032653del | CA274584 | MECP2 | c.27-94_1207del c.63-94_1243del c.63-94_*579del c.27-94_*579del c.-253-94_928del c.-534-94_538del | ClinVar |
| X | g.154030638_154038772del | CA274583 | MECP2 | c.27-6214_1191del c.63-6214_1227del c.63-6214_*563del c.27-6214_*563del c.-253-6214_912del c.-254+1021_912del c.-535+1021_522del c.-534-6214_522del | ClinVar |
| X | g.154030638_154038583delinsAC | CA274582 | MECP2 | c.27-6026_1190delinsGT c.63-6026_1226delinsGT c.63-6026_*562delinsGT c.27-6026_*562delinsGT c.-253-6026_911delinsGT c.-254+1209_911delinsGT c.-535+1209_521delinsGT c.-534-6026_521delinsGT | ClinVar |
| X | g.154030646_154036487del | CA274579 | MECP2 | c.27-3928_1184del c.63-3928_1220del c.63-3928_*556del c.27-3928_*556del c.-253-3928_905del c.-254+3307_905del c.-535+3307_515del c.-534-3928_515del | ClinVar |
| X | g.154030646_154032241del | CA915952020 | MECP2 | c.343_1182del c.379_1218del c.379_*554del c.343_*554del c.64_903del c.-218_513del | |
| X | g.154030663_154037047del | CA916084238 | MECP2 | c.27-4487_1168del c.63-4487_1204del c.63-4487_*540del c.27-4487_*540del c.-253-4487_889del c.-254+2748_889del c.-535+2748_499del c.-534-4487_499del | ClinVar |
| X | g.154030672_154039641del | CA1139667883 | MECP2 | c.27-7080_1160del c.63-7080_1196del c.63-7080_*532del c.27-7080_*532del c.-253-7080_881del c.-254+155_881del c.-535+155_491del c.-534-7080_491del | ClinVar |
| X | g.154030690_154038335del | CA915952024 | MECP2 | c.27-5778_1138del c.63-5778_1174del c.63-5778_*510del c.27-5778_*510del c.-253-5778_859del c.-254+1457_859del c.-535+1457_469del c.-534-5778_469del | ClinVar |
| X | g.154030700_154032236del | CA915952025 | MECP2 | c.348_1128del c.384_1164del c.384_*500del c.348_*500del c.69_849del c.-213_459del | |
| X | g.154030777_154032630del | CA915952026 | MECP2 | c.27-73_1051del c.63-73_1087del c.63-73_*423del c.27-73_*423del c.-253-73_772del c.-534-73_382del | ClinVar |
| X | g.154030926_154038331delinsTGACATCAGTCCGGGCAC | CA274581 | MECP2 | c.27-5774_902delinsGTGCCCGGACTGATGTCA c.63-5774_938delinsGTGCCCGGACTGATGTCA c.63-5774_*274delinsGTGCCCGGACTGATGTCA c.15-5774_888delinsGTGCCCGGACTGATGTCA c.27-5774_*274delinsGTGCCCGGACTGATGTCA c.-253-5774_623delinsGTGCCCGGACTGATGTCA c.-254+1461_623delinsGTGCCCGGACTGATGTCA c.-535+1461_233delinsGTGCCCGGACTGATGTCA c.-534-5774_233delinsGTGCCCGGACTGATGTCA | ClinVar |
| X | g.154031347_154035447del | CA891863116 | MECP2 | c.27-2890_481del c.63-2890_517del c.63-2890_468+49del n.2375-2890_2829del c.15-2890_469del c.27-2890_432+49del c.-253-2890_202del c.-534-2890_-129+49del | ClinVar |
| X | g.154032074_154032079delinsGCACAC | CA2466571435 | MECP2 | c.377+128_377+133delinsGTGTGC (n.377+128_377+133delinsGTGTGC) c.413+128_413+133delinsGTGTGC (n.413+128_413+133delinsGTGTGC) c.10+128_10+133delinsGTGTGC c.*431+128_*431+133delinsGTGTGC (n.*431+128_*431+133delinsGTGTGC) n.2725+128_2725+133delinsGTGTGC c.365+128_365+133delinsGTGTGC (n.365+128_365+133delinsGTGTGC) c.98+128_98+133delinsGTGTGC (n.98+128_98+133delinsGTGTGC) c.-184+128_-184+133delinsGTGTGC (n.-184+128_-184+133delinsGTGTGC) | |
| X | g.154032075C>A | CA2695102096 | MECP2 | c.377+132G>T (n.377+132G>T) c.413+132G>T (n.413+132G>T) c.10+132G>T c.*431+132G>T (n.*431+132G>T) n.2725+132G>T c.365+132G>T (n.365+132G>T) c.98+132G>T (n.98+132G>T) c.-184+132G>T (n.-184+132G>T) | gnomAD v4 |
| X | g.154032075C>G | CA2695102097 | MECP2 | c.377+132G>C (n.377+132G>C) c.413+132G>C (n.413+132G>C) c.10+132G>C c.*431+132G>C (n.*431+132G>C) n.2725+132G>C c.365+132G>C (n.365+132G>C) c.98+132G>C (n.98+132G>C) c.-184+132G>C (n.-184+132G>C) | gnomAD v4 |
| X | g.154032076_154032080del | CA2466571436 | MECP2 | c.377+128_377+132del (n.377+128_377+132del) c.413+128_413+132del (n.413+128_413+132del) c.10+128_10+132del c.*431+128_*431+132del (n.*431+128_*431+132del) n.2725+128_2725+132del c.365+128_365+132del (n.365+128_365+132del) c.98+128_98+132del (n.98+128_98+132del) c.-184+128_-184+132del (n.-184+128_-184+132del) | dbSNP gnomAD v4 |
| X | g.154032076A>G | CA2695102098 | MECP2 | c.377+131T>C (n.377+131T>C) c.413+131T>C (n.413+131T>C) c.10+131T>C c.*431+131T>C (n.*431+131T>C) n.2725+131T>C c.365+131T>C (n.365+131T>C) c.98+131T>C (n.98+131T>C) c.-184+131T>C (n.-184+131T>C) | gnomAD v4 |
| X | g.154032077C= | CA2466571437 | MECP2 | c.377+130G= (n.377+130G=) c.413+130G= (n.413+130G=) c.10+130G= c.*431+130G= (n.*431+130G=) n.2725+130G= c.365+130G= (n.365+130G=) c.98+130G= (n.98+130G=) c.-184+130G= (n.-184+130G=) | |
| X | g.154032077C>T | CA873294523 | MECP2 | c.377+130G>A (n.377+130G>A) c.413+130G>A (n.413+130G>A) c.10+130G>A c.*431+130G>A (n.*431+130G>A) n.2725+130G>A c.365+130G>A (n.365+130G>A) c.98+130G>A (n.98+130G>A) c.-184+130G>A (n.-184+130G>A) | dbSNP |
| X | g.154032079C>A | CA2695102099 | MECP2 | c.377+128G>T (n.377+128G>T) c.413+128G>T (n.413+128G>T) c.10+128G>T c.*431+128G>T (n.*431+128G>T) n.2725+128G>T c.365+128G>T (n.365+128G>T) c.98+128G>T (n.98+128G>T) c.-184+128G>T (n.-184+128G>T) | gnomAD v4 |
| X | g.154032079C= | CA2466571438 | MECP2 | c.377+128G= (n.377+128G=) c.413+128G= (n.413+128G=) c.10+128G= c.*431+128G= (n.*431+128G=) n.2725+128G= c.365+128G= (n.365+128G=) c.98+128G= (n.98+128G=) c.-184+128G= (n.-184+128G=) | |
| X | g.154032079C>T | CA2466571439 | MECP2 | c.377+128G>A (n.377+128G>A) c.413+128G>A (n.413+128G>A) c.10+128G>A c.*431+128G>A (n.*431+128G>A) n.2725+128G>A c.365+128G>A (n.365+128G>A) c.98+128G>A (n.98+128G>A) c.-184+128G>A (n.-184+128G>A) | dbSNP |
| X | g.154032080C= | CA2466571440 | MECP2 | c.377+127G= (n.377+127G=) c.413+127G= (n.413+127G=) c.10+127G= c.*431+127G= (n.*431+127G=) n.2725+127G= c.365+127G= (n.365+127G=) c.98+127G= (n.98+127G=) c.-184+127G= (n.-184+127G=) | |
| X | g.154032080C>G | CA873294525 | MECP2 | c.377+127G>C (n.377+127G>C) c.413+127G>C (n.413+127G>C) c.10+127G>C c.*431+127G>C (n.*431+127G>C) n.2725+127G>C c.365+127G>C (n.365+127G>C) c.98+127G>C (n.98+127G>C) c.-184+127G>C (n.-184+127G>C) | dbSNP gnomAD v4 |
| X | g.154032081_154032082insCAAGTCTTTATCTGG | CA2561701814 | MECP2 | c.377+125_377+126insCCAGATAAAGACTTG (n.377+125_377+126insCCAGATAAAGACTTG) c.413+125_413+126insCCAGATAAAGACTTG (n.413+125_413+126insCCAGATAAAGACTTG) c.10+125_10+126insCCAGATAAAGACTTG c.*431+125_*431+126insCCAGATAAAGACTTG (n.*431+125_*431+126insCCAGATAAAGACTTG) n.2725+125_2725+126insCCAGATAAAGACTTG c.365+125_365+126insCCAGATAAAGACTTG (n.365+125_365+126insCCAGATAAAGACTTG) c.98+125_98+126insCCAGATAAAGACTTG (n.98+125_98+126insCCAGATAAAGACTTG) c.-184+125_-184+126insCCAGATAAAGACTTG (n.-184+125_-184+126insCCAGATAAAGACTTG) | |
| X | g.154032082G>A | CA337265334 | MECP2 | c.377+125C>T (n.377+125C>T) c.413+125C>T (n.413+125C>T) c.10+125C>T c.*431+125C>T (n.*431+125C>T) n.2725+125C>T c.365+125C>T (n.365+125C>T) c.98+125C>T (n.98+125C>T) c.-184+125C>T (n.-184+125C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154032082G>C | CA2695102101 | MECP2 | c.377+125C>G (n.377+125C>G) c.413+125C>G (n.413+125C>G) c.10+125C>G c.*431+125C>G (n.*431+125C>G) n.2725+125C>G c.365+125C>G (n.365+125C>G) c.98+125C>G (n.98+125C>G) c.-184+125C>G (n.-184+125C>G) | gnomAD v4 |
| X | g.154032082G= | CA2466571441 | MECP2 | c.377+125C= (n.377+125C=) c.413+125C= (n.413+125C=) c.10+125C= c.*431+125C= (n.*431+125C=) n.2725+125C= c.365+125C= (n.365+125C=) c.98+125C= (n.98+125C=) c.-184+125C= (n.-184+125C=) | |
| X | g.154032082G>T | CA2695102102 | MECP2 | c.377+125C>A (n.377+125C>A) c.413+125C>A (n.413+125C>A) c.10+125C>A c.*431+125C>A (n.*431+125C>A) n.2725+125C>A c.365+125C>A (n.365+125C>A) c.98+125C>A (n.98+125C>A) c.-184+125C>A (n.-184+125C>A) | gnomAD v4 |
| X | g.154032083del | CA2695102100 | MECP2 | c.377+125del (n.377+125del) c.413+125del (n.413+125del) c.10+125del c.*431+125del (n.*431+125del) n.2725+125del c.365+125del (n.365+125del) c.98+125del (n.98+125del) c.-184+125del (n.-184+125del) | gnomAD v4 |
| X | g.154032083G>A | CA873294527 | MECP2 | c.377+124C>T (n.377+124C>T) c.413+124C>T (n.413+124C>T) c.10+124C>T c.*431+124C>T (n.*431+124C>T) n.2725+124C>T c.365+124C>T (n.365+124C>T) c.98+124C>T (n.98+124C>T) c.-184+124C>T (n.-184+124C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154032083G>C | CA873294528 | MECP2 | c.377+124C>G (n.377+124C>G) c.413+124C>G (n.413+124C>G) c.10+124C>G c.*431+124C>G (n.*431+124C>G) n.2725+124C>G c.365+124C>G (n.365+124C>G) c.98+124C>G (n.98+124C>G) c.-184+124C>G (n.-184+124C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154032083G= | CA2466571442 | MECP2 | c.377+124C= (n.377+124C=) c.413+124C= (n.413+124C=) c.10+124C= c.*431+124C= (n.*431+124C=) n.2725+124C= c.365+124C= (n.365+124C=) c.98+124C= (n.98+124C=) c.-184+124C= (n.-184+124C=) | |
| X | g.154032084T>A | CA337265346 | MECP2 | c.377+123A>T (n.377+123A>T) c.413+123A>T (n.413+123A>T) c.10+123A>T c.*431+123A>T (n.*431+123A>T) n.2725+123A>T c.365+123A>T (n.365+123A>T) c.98+123A>T (n.98+123A>T) c.-184+123A>T (n.-184+123A>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154032084T= | CA2466571443 | MECP2 | c.377+123A= (n.377+123A=) c.413+123A= (n.413+123A=) c.10+123A= c.*431+123A= (n.*431+123A=) n.2725+123A= c.365+123A= (n.365+123A=) c.98+123A= (n.98+123A=) c.-184+123A= (n.-184+123A=) | |
| X | g.154032086_154032087del | CA2695102103 | MECP2 | c.377+122_377+123del (n.377+122_377+123del) c.413+122_413+123del (n.413+122_413+123del) c.10+122_10+123del c.*431+122_*431+123del (n.*431+122_*431+123del) n.2725+122_2725+123del c.365+122_365+123del (n.365+122_365+123del) c.98+122_98+123del (n.98+122_98+123del) c.-184+122_-184+123del (n.-184+122_-184+123del) | gnomAD v4 |
| X | g.154032085C>T | CA2695102104 | MECP2 | c.377+122G>A (n.377+122G>A) c.413+122G>A (n.413+122G>A) c.10+122G>A c.*431+122G>A (n.*431+122G>A) n.2725+122G>A c.365+122G>A (n.365+122G>A) c.98+122G>A (n.98+122G>A) c.-184+122G>A (n.-184+122G>A) | gnomAD v4 |
| X | g.154032086T>C | CA645289932 | MECP2 | c.377+121A>G (n.377+121A>G) c.413+121A>G (n.413+121A>G) c.10+121A>G c.*431+121A>G (n.*431+121A>G) n.2725+121A>G c.365+121A>G (n.365+121A>G) c.98+121A>G (n.98+121A>G) c.-184+121A>G (n.-184+121A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154032086T= | CA2466571444 | MECP2 | c.377+121A= (n.377+121A=) c.413+121A= (n.413+121A=) c.10+121A= c.*431+121A= (n.*431+121A=) n.2725+121A= c.365+121A= (n.365+121A=) c.98+121A= (n.98+121A=) c.-184+121A= (n.-184+121A=) | |
| X | g.154032087_154032088del | CA2824280984 | MECP2 | c.377+119_377+120del (n.377+119_377+120del) c.413+119_413+120del (n.413+119_413+120del) c.10+119_10+120del c.*431+119_*431+120del (n.*431+119_*431+120del) n.2725+119_2725+120del c.365+119_365+120del (n.365+119_365+120del) c.98+119_98+120del (n.98+119_98+120del) c.-184+119_-184+120del (n.-184+119_-184+120del) | |
| X | g.154032088A>T | CA2695102105 | MECP2 | c.377+119T>A (n.377+119T>A) c.413+119T>A (n.413+119T>A) c.10+119T>A c.*431+119T>A (n.*431+119T>A) n.2725+119T>A c.365+119T>A (n.365+119T>A) c.98+119T>A (n.98+119T>A) c.-184+119T>A (n.-184+119T>A) | gnomAD v4 |
| X | g.154032089G>A | CA873294538 | MECP2 | c.377+118C>T (n.377+118C>T) c.413+118C>T (n.413+118C>T) c.10+118C>T c.*431+118C>T (n.*431+118C>T) n.2725+118C>T c.365+118C>T (n.365+118C>T) c.98+118C>T (n.98+118C>T) c.-184+118C>T (n.-184+118C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154032089G>C | CA2466571446 | MECP2 | c.377+118C>G (n.377+118C>G) c.413+118C>G (n.413+118C>G) c.10+118C>G c.*431+118C>G (n.*431+118C>G) n.2725+118C>G c.365+118C>G (n.365+118C>G) c.98+118C>G (n.98+118C>G) c.-184+118C>G (n.-184+118C>G) | dbSNP gnomAD v4 |
| X | g.154032089G= | CA2466571445 | MECP2 | c.377+118C= (n.377+118C=) c.413+118C= (n.413+118C=) c.10+118C= c.*431+118C= (n.*431+118C=) n.2725+118C= c.365+118C= (n.365+118C=) c.98+118C= (n.98+118C=) c.-184+118C= (n.-184+118C=) | |
| X | g.154032090T>C | CA2466571448 | MECP2 | c.377+117A>G (n.377+117A>G) c.413+117A>G (n.413+117A>G) c.10+117A>G c.*431+117A>G (n.*431+117A>G) n.2725+117A>G c.365+117A>G (n.365+117A>G) c.98+117A>G (n.98+117A>G) c.-184+117A>G (n.-184+117A>G) | dbSNP gnomAD v4 |