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.154030367_154031450del | CA274586 | MECP2 | c.378_1461del (p.Pro127PhefsTer24) c.414_1497del (p.Pro139PhefsTer24) c.378_1457del c.378_*833del c.99_1182del (p.Pro34PhefsTer24) c.-183_792del | 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.154030639_154031446del | CA274587 | MECP2 | c.382_1189del (p.Gln128ArgfsTer12) c.418_1225del (p.Gln140ArgfsTer12) c.418_*561del c.382_*561del c.103_910del (p.Gln35ArgfsTer12) c.-179_520del | 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.154031431G>A | CA211250 | MECP2 | c.397C>T (p.Arg133Cys) c.433C>T (p.Arg145Cys) c.30C>T c.*451C>T (n.*451C>T) n.2745C>T c.385C>T (p.Arg129Cys) c.118C>T (p.Arg40Cys) c.-164C>T (n.-164C>T) | ClinVar dbSNP |
| X | g.154031431G>C | CA270387 | MECP2 | c.397C>G (p.Arg133Gly) c.433C>G (p.Arg145Gly) c.30C>G c.*451C>G (n.*451C>G) n.2745C>G c.385C>G (p.Arg129Gly) c.118C>G (p.Arg40Gly) c.-164C>G (n.-164C>G) | ClinVar dbSNP |
| X | g.154031431G= | CA2466571034 | MECP2 | c.397C= (p.Arg133=) c.433C= (p.Arg145=) c.30C= c.*451C= (n.*451C=) n.2745C= c.385C= (p.Arg129=) c.118C= (p.Arg40=) c.-164C= (n.-164C=) | |
| X | g.154031431G>T | CA415175306 | MECP2 | c.397C>A (p.Arg133Ser) c.433C>A (p.Arg145Ser) c.30C>A c.*451C>A (n.*451C>A) n.2745C>A c.385C>A (p.Arg129Ser) c.118C>A (p.Arg40Ser) c.-164C>A (n.-164C>A) | ClinVar dbSNP |
| X | g.154031432A>C | CA415175310 | MECP2 | c.396T>G (p.Phe132Leu) c.432T>G (p.Phe144Leu) c.29T>G c.*450T>G (n.*450T>G) n.2744T>G c.384T>G (p.Phe128Leu) c.117T>G (p.Phe39Leu) c.-165T>G (n.-165T>G) | |
| X | g.154031432A>G | CA519705733 | MECP2 | c.396T>C (p.Phe132=) c.432T>C (p.Phe144=) c.29T>C c.*450T>C (n.*450T>C) n.2744T>C c.384T>C (p.Phe128=) c.117T>C (p.Phe39=) c.-165T>C (n.-165T>C) | dbSNP |
| X | g.154031432A>T | CA415175316 | MECP2 | c.396T>A (p.Phe132Leu) c.432T>A (p.Phe144Leu) c.29T>A c.*450T>A (n.*450T>A) n.2744T>A c.384T>A (p.Phe128Leu) c.117T>A (p.Phe39Leu) c.-165T>A (n.-165T>A) | |
| X | g.154031433A>C | CA415175318 | MECP2 | c.395T>G (p.Phe132Cys) c.431T>G (p.Phe144Cys) c.28T>G c.*449T>G (n.*449T>G) n.2743T>G c.383T>G (p.Phe128Cys) c.116T>G (p.Phe39Cys) c.-166T>G (n.-166T>G) | |
| X | g.154031433A>G | CA415175323 | MECP2 | c.395T>C (p.Phe132Ser) c.431T>C (p.Phe144Ser) c.28T>C c.*449T>C (n.*449T>C) n.2743T>C c.383T>C (p.Phe128Ser) c.116T>C (p.Phe39Ser) c.-166T>C (n.-166T>C) | |
| X | g.154031433A>T | CA415175321 | MECP2 | c.395T>A (p.Phe132Tyr) c.431T>A (p.Phe144Tyr) c.28T>A c.*449T>A (n.*449T>A) n.2743T>A c.383T>A (p.Phe128Tyr) c.116T>A (p.Phe39Tyr) c.-166T>A (n.-166T>A) | |
| X | g.154031434A>C | CA415175326 | MECP2 | c.394T>G (p.Phe132Val) c.430T>G (p.Phe144Val) c.27T>G c.*448T>G (n.*448T>G) n.2742T>G c.382T>G (p.Phe128Val) c.115T>G (p.Phe39Val) c.-167T>G (n.-167T>G) | |
| X | g.154031434A>G | CA415175328 | MECP2 | c.394T>C (p.Phe132Leu) c.430T>C (p.Phe144Leu) c.27T>C c.*448T>C (n.*448T>C) n.2742T>C c.382T>C (p.Phe128Leu) c.115T>C (p.Phe39Leu) c.-167T>C (n.-167T>C) | |
| X | g.154031434A>T | CA415175338 | MECP2 | c.394T>A (p.Phe132Ile) c.430T>A (p.Phe144Ile) c.27T>A c.*448T>A (n.*448T>A) n.2742T>A c.382T>A (p.Phe128Ile) c.115T>A (p.Phe39Ile) c.-167T>A (n.-167T>A) | |
| X | g.154031435G>A | CA10558612 | MECP2 | c.393C>T (p.Ala131=) c.429C>T (p.Ala143=) c.26C>T c.*447C>T (n.*447C>T) n.2741C>T c.381C>T (p.Ala127=) c.114C>T (p.Ala38=) c.-168C>T (n.-168C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154031435G>C | CA170296 | MECP2 | c.393C>G (p.Ala131=) c.429C>G (p.Ala143=) c.26C>G c.*447C>G (n.*447C>G) n.2741C>G c.381C>G (p.Ala127=) c.114C>G (p.Ala38=) c.-168C>G (n.-168C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.154031435G= | CA2466571035 | MECP2 | c.393C= (p.Ala131=) c.429C= (p.Ala143=) c.26C= c.*447C= (n.*447C=) n.2741C= c.381C= (p.Ala127=) c.114C= (p.Ala38=) c.-168C= (n.-168C=) | |
| X | g.154031435G>T | CA519705737 | MECP2 | c.393C>A (p.Ala131=) c.429C>A (p.Ala143=) c.26C>A c.*447C>A (n.*447C>A) n.2741C>A c.381C>A (p.Ala127=) c.114C>A (p.Ala38=) c.-168C>A (n.-168C>A) | ClinVar |
| X | g.154031436G>A | CA415175348 | MECP2 | c.392C>T (p.Ala131Val) c.428C>T (p.Ala143Val) c.25C>T c.*446C>T (n.*446C>T) n.2740C>T c.380C>T (p.Ala127Val) c.113C>T (p.Ala38Val) c.-169C>T (n.-169C>T) | |
| X | g.154031436G>C | CA415175349 | MECP2 | c.392C>G (p.Ala131Gly) c.428C>G (p.Ala143Gly) c.25C>G c.*446C>G (n.*446C>G) n.2740C>G c.380C>G (p.Ala127Gly) c.113C>G (p.Ala38Gly) c.-169C>G (n.-169C>G) | |
| X | g.154031436G= | CA2466571036 | MECP2 | c.392C= (p.Ala131=) c.428C= (p.Ala143=) c.25C= c.*446C= (n.*446C=) n.2740C= c.380C= (p.Ala127=) c.113C= (p.Ala38=) c.-169C= (n.-169C=) | |
| X | g.154031436G>T | CA270384 | MECP2 | c.392C>A (p.Ala131Asp) c.428C>A (p.Ala143Asp) c.25C>A c.*446C>A (n.*446C>A) n.2740C>A c.380C>A (p.Ala127Asp) c.113C>A (p.Ala38Asp) c.-169C>A (n.-169C>A) | ClinVar dbSNP |
| X | g.154031437C>A | CA415175353 | MECP2 | c.391G>T (p.Ala131Ser) c.427G>T (p.Ala143Ser) c.24G>T c.*445G>T (n.*445G>T) n.2739G>T c.379G>T (p.Ala127Ser) c.112G>T (p.Ala38Ser) c.-170G>T (n.-170G>T) | dbSNP |
| X | g.154031437C= | CA2466571038 | MECP2 | c.391G= (p.Ala131=) c.427G= (p.Ala143=) c.24G= c.*445G= (n.*445G=) n.2739G= c.379G= (p.Ala127=) c.112G= (p.Ala38=) c.-170G= (n.-170G=) | |
| X | g.154031437C>G | CA415175357 | MECP2 | c.391G>C (p.Ala131Pro) c.427G>C (p.Ala143Pro) c.24G>C c.*445G>C (n.*445G>C) n.2739G>C c.379G>C (p.Ala127Pro) c.112G>C (p.Ala38Pro) c.-170G>C (n.-170G>C) | ClinVar |
| X | g.154031437C>T | CA415175360 | MECP2 | c.391G>A (p.Ala131Thr) c.427G>A (p.Ala143Thr) c.24G>A c.*445G>A (n.*445G>A) n.2739G>A c.379G>A (p.Ala127Thr) c.112G>A (p.Ala38Thr) c.-170G>A (n.-170G>A) | |
| X | g.154031437dup | CA519705742 | MECP2 | c.391dup (p.Ala131GlyfsTer5) c.427dup (p.Ala143GlyfsTer5) c.24dup c.*445dup (n.*445dup) n.2739dup c.379dup (p.Ala127GlyfsTer5) c.112dup (p.Ala38GlyfsTer5) c.-170dup (n.-170dup) | |
| X | g.154031437_154031438delinsCT | CA2466571037 | MECP2 | c.390_391delinsAG (p.Lys130=) c.426_427delinsAG (p.Lys142=) c.23_24delinsAG c.*444_*445delinsAG (n.*444_*445delinsAG) n.2738_2739delinsAG c.378_379delinsAG (p.Lys126=) c.111_112delinsAG (p.Lys37=) c.-171_-170delinsAG (n.-171_-170delinsAG) | |
| X | g.154031438T>A | CA415175364 | MECP2 | c.390A>T (p.Lys130Asn) c.426A>T (p.Lys142Asn) c.23A>T c.*444A>T (n.*444A>T) n.2738A>T c.378A>T (p.Lys126Asn) c.111A>T (p.Lys37Asn) c.-171A>T (n.-171A>T) | |
| X | g.154031438T>C | CA519705743 | MECP2 | c.390A>G (p.Lys130=) c.426A>G (p.Lys142=) c.23A>G c.*444A>G (n.*444A>G) n.2738A>G c.378A>G (p.Lys126=) c.111A>G (p.Lys37=) c.-171A>G (n.-171A>G) | |
| X | g.154031438T>G | CA415175365 | MECP2 | c.390A>C (p.Lys130Asn) c.426A>C (p.Lys142Asn) c.23A>C c.*444A>C (n.*444A>C) n.2738A>C c.378A>C (p.Lys126Asn) c.111A>C (p.Lys37Asn) c.-171A>C (n.-171A>C) | |
| X | g.154031441dup | CA2695202119 | MECP2 | c.390dup (p.Ala131SerfsTer5) c.426dup (p.Ala143SerfsTer5) c.23dup c.*444dup (n.*444dup) n.2738dup c.378dup (p.Ala127SerfsTer5) c.111dup (p.Ala38SerfsTer5) c.-171dup (n.-171dup) |