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.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.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.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.154032248T>A | CA415176692 | MECP2 | c.336A>T (p.Lys112Asn) c.372A>T (p.Lys124Asn) c.*390A>T (n.*390A>T) n.2684A>T c.324A>T (p.Lys108Asn) c.57A>T (p.Lys19Asn) c.-225A>T (n.-225A>T) | |
| X | g.154032248T>C | CA519705266 | MECP2 | c.336A>G (p.Lys112=) c.372A>G (p.Lys124=) c.*390A>G (n.*390A>G) n.2684A>G c.324A>G (p.Lys108=) c.57A>G (p.Lys19=) c.-225A>G (n.-225A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.154032248T>G | CA415176693 | MECP2 | c.336A>C (p.Lys112Asn) c.372A>C (p.Lys124Asn) c.*390A>C (n.*390A>C) n.2684A>C c.324A>C (p.Lys108Asn) c.57A>C (p.Lys19Asn) c.-225A>C (n.-225A>C) | |
| X | g.154032248T= | CA2466571528 | MECP2 | c.336A= (p.Lys112=) c.372A= (p.Lys124=) c.*390A= (n.*390A=) n.2684A= c.324A= (p.Lys108=) c.57A= (p.Lys19=) c.-225A= (n.-225A=) | |
| X | g.154032249T>A | CA415176696 | MECP2 | c.335A>T (p.Lys112Ile) c.371A>T (p.Lys124Ile) c.*389A>T (n.*389A>T) n.2683A>T c.323A>T (p.Lys108Ile) c.56A>T (p.Lys19Ile) c.-226A>T (n.-226A>T) | |
| X | g.154032249T>C | CA415176704 | MECP2 | c.335A>G (p.Lys112Arg) c.371A>G (p.Lys124Arg) c.*389A>G (n.*389A>G) n.2683A>G c.323A>G (p.Lys108Arg) c.56A>G (p.Lys19Arg) c.-226A>G (n.-226A>G) | |
| X | g.154032249T>G | CA415176706 | MECP2 | c.335A>C (p.Lys112Thr) c.371A>C (p.Lys124Thr) c.*389A>C (n.*389A>C) n.2683A>C c.323A>C (p.Lys108Thr) c.56A>C (p.Lys19Thr) c.-226A>C (n.-226A>C) | |
| X | g.154032250T>A | CA232962 | MECP2 | c.334A>T (p.Lys112Ter) c.370A>T (p.Lys124Ter) c.*388A>T (n.*388A>T) n.2682A>T c.322A>T (p.Lys108Ter) c.55A>T (p.Lys19Ter) c.-227A>T (n.-227A>T) | ClinVar dbSNP |
| X | g.154032250T>C | CA415176708 | MECP2 | c.334A>G (p.Lys112Glu) c.370A>G (p.Lys124Glu) c.*388A>G (n.*388A>G) n.2682A>G c.322A>G (p.Lys108Glu) c.55A>G (p.Lys19Glu) c.-227A>G (n.-227A>G) | |
| X | g.154032250T>G | CA415176711 | MECP2 | c.334A>C (p.Lys112Gln) c.370A>C (p.Lys124Gln) c.*388A>C (n.*388A>C) n.2682A>C c.322A>C (p.Lys108Gln) c.55A>C (p.Lys19Gln) c.-227A>C (n.-227A>C) | |
| X | g.154032250T= | CA2466571529 | MECP2 | c.334A= (p.Lys112=) c.370A= (p.Lys124=) c.*388A= (n.*388A=) n.2682A= c.322A= (p.Lys108=) c.55A= (p.Lys19=) c.-227A= (n.-227A=) | |
| X | g.154032251C>A | CA415176714 | MECP2 | c.333G>T (p.Arg111Ser) c.369G>T (p.Arg123Ser) c.*387G>T (n.*387G>T) n.2681G>T c.321G>T (p.Arg107Ser) c.54G>T (p.Arg18Ser) c.-228G>T (n.-228G>T) | |
| X | g.154032251C>G | CA415176717 | MECP2 | c.333G>C (p.Arg111Ser) c.369G>C (p.Arg123Ser) c.*387G>C (n.*387G>C) n.2681G>C c.321G>C (p.Arg107Ser) c.54G>C (p.Arg18Ser) c.-228G>C (n.-228G>C) | |
| X | g.154032251C>T | CA519705268 | MECP2 | c.333G>A (p.Arg111=) c.369G>A (p.Arg123=) c.*387G>A (n.*387G>A) n.2681G>A c.321G>A (p.Arg107=) c.54G>A (p.Arg18=) c.-228G>A (n.-228G>A) | ClinVar |
| X | g.154032252C>A | CA415176721 | MECP2 | c.332G>T (p.Arg111Met) c.368G>T (p.Arg123Met) c.*386G>T (n.*386G>T) n.2680G>T c.320G>T (p.Arg107Met) c.53G>T (p.Arg18Met) c.-229G>T (n.-229G>T) | |
| X | g.154032252C= | CA2466571530 | MECP2 | c.332G= (p.Arg111=) c.368G= (p.Arg123=) c.*386G= (n.*386G=) n.2680G= c.320G= (p.Arg107=) c.53G= (p.Arg18=) c.-229G= (n.-229G=) | |
| X | g.154032252C>G | CA415176724 | MECP2 | c.332G>C (p.Arg111Thr) c.368G>C (p.Arg123Thr) c.*386G>C (n.*386G>C) n.2680G>C c.320G>C (p.Arg107Thr) c.53G>C (p.Arg18Thr) c.-229G>C (n.-229G>C) | ClinVar |
| X | g.154032252C>T | CA16043705 | MECP2 | c.332G>A (p.Arg111Lys) c.368G>A (p.Arg123Lys) c.*386G>A (n.*386G>A) n.2680G>A c.320G>A (p.Arg107Lys) c.53G>A (p.Arg18Lys) c.-229G>A (n.-229G>A) | ClinVar dbSNP |
| X | g.154032253T>A | CA415176730 | MECP2 | c.331A>T (p.Arg111Trp) c.367A>T (p.Arg123Trp) c.*385A>T (n.*385A>T) n.2679A>T c.319A>T (p.Arg107Trp) c.52A>T (p.Arg18Trp) c.-230A>T (n.-230A>T) | |
| X | g.154032253T>C | CA270357 | MECP2 | c.331A>G (p.Arg111Gly) c.367A>G (p.Arg123Gly) c.*385A>G (n.*385A>G) n.2679A>G c.319A>G (p.Arg107Gly) c.52A>G (p.Arg18Gly) c.-230A>G (n.-230A>G) | ClinVar dbSNP |
| X | g.154032253T>G | CA519705272 | MECP2 | c.331A>C (p.Arg111=) c.367A>C (p.Arg123=) c.*385A>C (n.*385A>C) n.2679A>C c.319A>C (p.Arg107=) c.52A>C (p.Arg18=) c.-230A>C (n.-230A>C) | |
| X | g.154032253T= | CA2466571531 | MECP2 | c.331A= (p.Arg111=) c.367A= (p.Arg123=) c.*385A= (n.*385A=) n.2679A= c.319A= (p.Arg107=) c.52A= (p.Arg18=) c.-230A= (n.-230A=) | |
| X | g.154032254T>A | CA415176733 | MECP2 | c.330A>T (p.Gln110His) c.366A>T (p.Gln122His) c.*384A>T (n.*384A>T) n.2678A>T c.318A>T (p.Gln106His) c.51A>T (p.Gln17His) c.-231A>T (n.-231A>T) | |
| X | g.154032254T>C | CA519705274 | MECP2 | c.330A>G (p.Gln110=) c.366A>G (p.Gln122=) c.*384A>G (n.*384A>G) n.2678A>G c.318A>G (p.Gln106=) c.51A>G (p.Gln17=) c.-231A>G (n.-231A>G) | |
| X | g.154032254T>G | CA415176735 | MECP2 | c.330A>C (p.Gln110His) c.366A>C (p.Gln122His) c.*384A>C (n.*384A>C) n.2678A>C c.318A>C (p.Gln106His) c.51A>C (p.Gln17His) c.-231A>C (n.-231A>C) | |
| X | g.154032255T>A | CA415176739 | MECP2 | c.329A>T (p.Gln110Leu) c.365A>T (p.Gln122Leu) c.*383A>T (n.*383A>T) n.2677A>T c.317A>T (p.Gln106Leu) c.50A>T (p.Gln17Leu) c.-232A>T (n.-232A>T) | |
| X | g.154032255T>C | CA415176742 | MECP2 | c.329A>G (p.Gln110Arg) c.365A>G (p.Gln122Arg) c.*383A>G (n.*383A>G) n.2677A>G c.317A>G (p.Gln106Arg) c.50A>G (p.Gln17Arg) c.-232A>G (n.-232A>G) | |
| X | g.154032255T>G | CA415176745 | MECP2 | c.329A>C (p.Gln110Pro) c.365A>C (p.Gln122Pro) c.*383A>C (n.*383A>C) n.2677A>C c.317A>C (p.Gln106Pro) c.50A>C (p.Gln17Pro) c.-232A>C (n.-232A>C) | |
| X | g.154032256G>A | CA415176755 | MECP2 | c.328C>T (p.Gln110Ter) c.364C>T (p.Gln122Ter) c.*382C>T (n.*382C>T) n.2676C>T c.316C>T (p.Gln106Ter) c.49C>T (p.Gln17Ter) c.-233C>T (n.-233C>T) | |
| X | g.154032256G>C | CA415176752 | MECP2 | c.328C>G (p.Gln110Glu) c.364C>G (p.Gln122Glu) c.*382C>G (n.*382C>G) n.2676C>G c.316C>G (p.Gln106Glu) c.49C>G (p.Gln17Glu) c.-233C>G (n.-233C>G) | |
| X | g.154032256G>T | CA415176749 | MECP2 | c.328C>A (p.Gln110Lys) c.364C>A (p.Gln122Lys) c.*382C>A (n.*382C>A) n.2676C>A c.316C>A (p.Gln106Lys) c.49C>A (p.Gln17Lys) c.-233C>A (n.-233C>A) | |
| X | g.154032257C>A | CA415176759 | MECP2 | c.327G>T (p.Lys109Asn) c.363G>T (p.Lys121Asn) c.*381G>T (n.*381G>T) n.2675G>T c.315G>T (p.Lys105Asn) c.48G>T (p.Lys16Asn) c.-234G>T (n.-234G>T) | |
| X | g.154032257C= | CA2466571532 | MECP2 | c.327G= (p.Lys109=) c.363G= (p.Lys121=) c.*381G= (n.*381G=) n.2675G= c.315G= (p.Lys105=) c.48G= (p.Lys16=) c.-234G= (n.-234G=) | |
| X | g.154032257C>G | CA415176763 | MECP2 | c.327G>C (p.Lys109Asn) c.363G>C (p.Lys121Asn) c.*381G>C (n.*381G>C) n.2675G>C c.315G>C (p.Lys105Asn) c.48G>C (p.Lys16Asn) c.-234G>C (n.-234G>C) | |
| X | g.154032257C>T | CA519705278 | MECP2 | c.327G>A (p.Lys109=) c.363G>A (p.Lys121=) c.*381G>A (n.*381G>A) n.2675G>A c.315G>A (p.Lys105=) c.48G>A (p.Lys16=) c.-234G>A (n.-234G>A) | gnomAD v4 |
| X | g.154032258T>A | CA415176768 | MECP2 | c.326A>T (p.Lys109Met) c.362A>T (p.Lys121Met) c.*380A>T (n.*380A>T) n.2674A>T c.314A>T (p.Lys105Met) c.47A>T (p.Lys16Met) c.-235A>T (n.-235A>T) |