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.154030660_154031387del | CA2573334949 | MECP2 | c.444_1171del (p.Ser149Ter) c.480_1207del (p.Ser161Ter) c.468+12_*543del c.432+12_*543del c.165_892del (p.Ser56Ter) c.-129+12_502del | |
| 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.154030665_154031373delinsACGCA | CA2580101841 | MECP2 | c.455_1163delinsTGCGT (p.Pro152LeufsTer6) c.491_1199delinsTGCGT (p.Pro164LeufsTer6) c.468+23_*535delinsTGCGT c.432+23_*535delinsTGCGT c.176_884delinsTGCGT (p.Pro59LeufsTer6) c.-129+23_494delinsTGCGT | 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.154030672_154031421del | CA274588 | MECP2 | c.409_1158del (p.Glu137_Leu386del) c.445_1194del (p.Glu149_Leu398del) c.445_*530del c.409_*530del c.130_879del (p.Glu44_Leu293del) c.-152_489del | 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.154031356_154031358delinsTGA | CA2466570990 | MECP2 | c.470_472delinsTCA (p.Phe157=) c.506_508delinsTCA (p.Phe169=) c.65+38_65+40delinsTCA c.468+38_468+40delinsTCA (n.468+38_468+40delinsTCA) n.2818_2820delinsTCA c.458_460delinsTCA (p.Phe153=) c.432+38_432+40delinsTCA (n.432+38_432+40delinsTCA) c.191_193delinsTCA (p.Phe64=) c.-129+38_-129+40delinsTCA (n.-129+38_-129+40delinsTCA) | |
| X | g.154031357G>A | CA519705617 | MECP2 | c.471C>T (p.Phe157=) c.507C>T (p.Phe169=) c.65+39C>T c.468+39C>T (n.468+39C>T) n.2819C>T c.459C>T (p.Phe153=) c.432+39C>T (n.432+39C>T) c.192C>T (p.Phe64=) c.-129+39C>T (n.-129+39C>T) | |
| X | g.154031357G>C | CA270435 | MECP2 | c.471C>G (p.Phe157Leu) c.507C>G (p.Phe169Leu) c.65+39C>G c.468+39C>G (n.468+39C>G) n.2819C>G c.459C>G (p.Phe153Leu) c.432+39C>G (n.432+39C>G) c.192C>G (p.Phe64Leu) c.-129+39C>G (n.-129+39C>G) | ClinVar dbSNP |
| X | g.154031357G= | CA2466570991 | MECP2 | c.471C= (p.Phe157=) c.507C= (p.Phe169=) c.65+39C= c.468+39C= (n.468+39C=) n.2819C= c.459C= (p.Phe153=) c.432+39C= (n.432+39C=) c.192C= (p.Phe64=) c.-129+39C= (n.-129+39C=) | |
| X | g.154031357G>T | CA415174547 | MECP2 | c.471C>A (p.Phe157Leu) c.507C>A (p.Phe169Leu) c.65+39C>A c.468+39C>A (n.468+39C>A) n.2819C>A c.459C>A (p.Phe153Leu) c.432+39C>A (n.432+39C>A) c.192C>A (p.Phe64Leu) c.-129+39C>A (n.-129+39C>A) | ClinVar dbSNP |
| X | g.154031357_154031358del | CA270433 | MECP2 | c.470_471del (p.Phe157TyrfsTer17) c.506_507del (p.Phe169TyrfsTer17) c.65+38_65+39del c.468+38_468+39del (n.468+38_468+39del) n.2818_2819del c.458_459del (p.Phe153TyrfsTer?) c.458_459del (p.Phe153TyrfsTer17) c.432+38_432+39del (n.432+38_432+39del) c.191_192del (p.Phe64TyrfsTer17) c.-129+38_-129+39del (n.-129+38_-129+39del) | ClinVar dbSNP |
| X | g.154031358A>C | CA415174551 | MECP2 | c.470T>G (p.Phe157Cys) c.506T>G (p.Phe169Cys) c.65+38T>G c.468+38T>G (n.468+38T>G) n.2818T>G c.458T>G (p.Phe153Cys) c.432+38T>G (n.432+38T>G) c.191T>G (p.Phe64Cys) c.-129+38T>G (n.-129+38T>G) | ClinVar |
| X | g.154031358A>G | CA415174553 | MECP2 | c.470T>C (p.Phe157Ser) c.506T>C (p.Phe169Ser) c.65+38T>C c.468+38T>C (n.468+38T>C) n.2818T>C c.458T>C (p.Phe153Ser) c.432+38T>C (n.432+38T>C) c.191T>C (p.Phe64Ser) c.-129+38T>C (n.-129+38T>C) | |
| X | g.154031358A>T | CA415174558 | MECP2 | c.470T>A (p.Phe157Tyr) c.506T>A (p.Phe169Tyr) c.65+38T>A c.468+38T>A (n.468+38T>A) n.2818T>A c.458T>A (p.Phe153Tyr) c.432+38T>A (n.432+38T>A) c.191T>A (p.Phe64Tyr) c.-129+38T>A (n.-129+38T>A) | |
| X | g.154031359dup | CA270434 | MECP2 | c.470dup (p.Thr158HisfsTer17) c.506dup (p.Thr170HisfsTer17) c.65+38dup c.468+38dup (n.468+38dup) n.2818dup c.458dup (p.Thr154HisfsTer?) c.458dup (p.Thr154HisfsTer17) c.432+38dup (n.432+38dup) c.191dup (p.Thr65HisfsTer17) c.-129+38dup (n.-129+38dup) | ClinVar dbSNP |
| X | g.154031360_154031364del | CA2695237610 | MECP2 | c.466_470del (p.Asp156HisfsTer17) c.502_506del (p.Asp168HisfsTer17) c.65+34_65+38del c.468+34_468+38del (n.468+34_468+38del) n.2814_2818del c.454_458del (p.Asp152HisfsTer?) c.454_458del (p.Asp152HisfsTer17) c.432+34_432+38del (n.432+34_432+38del) c.187_191del (p.Asp63HisfsTer17) c.-129+34_-129+38del (n.-129+34_-129+38del) | |
| X | g.154031359A= | CA2466570992 | MECP2 | c.469T= (p.Phe157=) c.505T= (p.Phe169=) c.65+37T= c.468+37T= (n.468+37T=) n.2817T= c.457T= (p.Phe153=) c.432+37T= (n.432+37T=) c.190T= (p.Phe64=) c.-129+37T= (n.-129+37T=) | |
| X | g.154031359A>C | CA415174565 | MECP2 | c.469T>G (p.Phe157Val) c.505T>G (p.Phe169Val) c.65+37T>G c.468+37T>G (n.468+37T>G) n.2817T>G c.457T>G (p.Phe153Val) c.432+37T>G (n.432+37T>G) c.190T>G (p.Phe64Val) c.-129+37T>G (n.-129+37T>G) | |
| X | g.154031359A>G | CA415174571 | MECP2 | c.469T>C (p.Phe157Leu) c.505T>C (p.Phe169Leu) c.65+37T>C c.468+37T>C (n.468+37T>C) n.2817T>C c.457T>C (p.Phe153Leu) c.432+37T>C (n.432+37T>C) c.190T>C (p.Phe64Leu) c.-129+37T>C (n.-129+37T>C) | |
| X | g.154031359A>T | CA274628 | MECP2 | c.469T>A (p.Phe157Ile) c.505T>A (p.Phe169Ile) c.65+37T>A c.468+37T>A (n.468+37T>A) n.2817T>A c.457T>A (p.Phe153Ile) c.432+37T>A (n.432+37T>A) c.190T>A (p.Phe64Ile) c.-129+37T>A (n.-129+37T>A) | ClinVar dbSNP |
| X | g.154031360G>A | CA232972 | MECP2 | c.468C>T (p.Asp156=) c.504C>T (p.Asp168=) c.65+36C>T c.468+36C>T (n.468+36C>T) n.2816C>T c.456C>T (p.Asp152=) c.432+36C>T (n.432+36C>T) c.189C>T (p.Asp63=) c.-129+36C>T (n.-129+36C>T) | ClinVar dbSNP |
| X | g.154031360G>C | CA202769 | MECP2 | c.468C>G (p.Asp156Glu) c.504C>G (p.Asp168Glu) c.65+36C>G c.468+36C>G (n.468+36C>G) n.2816C>G c.456C>G (p.Asp152Glu) c.432+36C>G (n.432+36C>G) c.189C>G (p.Asp63Glu) c.-129+36C>G (n.-129+36C>G) | ClinVar dbSNP |
| X | g.154031360G= | CA2466570993 | MECP2 | c.468C= (p.Asp156=) c.504C= (p.Asp168=) c.65+36C= c.468+36C= (n.468+36C=) n.2816C= c.456C= (p.Asp152=) c.432+36C= (n.432+36C=) c.189C= (p.Asp63=) c.-129+36C= (n.-129+36C=) | |
| X | g.154031360G>T | CA16609353 | MECP2 | c.468C>A (p.Asp156Glu) c.504C>A (p.Asp168Glu) c.65+36C>A c.468+36C>A (n.468+36C>A) n.2816C>A c.456C>A (p.Asp152Glu) c.432+36C>A (n.432+36C>A) c.189C>A (p.Asp63Glu) c.-129+36C>A (n.-129+36C>A) | ClinVar dbSNP |
| X | g.154031360dup | CA2695237611 | MECP2 | c.468dup (p.Phe157LeufsTer18) c.504dup (p.Phe169LeufsTer18) c.65+36dup c.468+36dup (n.468+36dup) n.2816dup c.456dup (p.Phe153LeufsTer?) c.456dup (p.Phe153LeufsTer18) c.432+36dup (n.432+36dup) c.189dup (p.Phe64LeufsTer18) c.-129+36dup (n.-129+36dup) | |
| X | g.154031361T>A | CA415174585 | MECP2 | c.467A>T (p.Asp156Val) c.503A>T (p.Asp168Val) c.65+35A>T c.468+35A>T (n.468+35A>T) n.2815A>T c.455A>T (p.Asp152Val) c.432+35A>T (n.432+35A>T) c.188A>T (p.Asp63Val) c.-129+35A>T (n.-129+35A>T) | |
| X | g.154031361T>C | CA270431 | MECP2 | c.467A>G (p.Asp156Gly) c.503A>G (p.Asp168Gly) c.65+35A>G c.468+35A>G (n.468+35A>G) n.2815A>G c.455A>G (p.Asp152Gly) c.432+35A>G (n.432+35A>G) c.188A>G (p.Asp63Gly) c.-129+35A>G (n.-129+35A>G) | ClinVar dbSNP |
| X | g.154031361T>G | CA270428 | MECP2 | c.467A>C (p.Asp156Ala) c.503A>C (p.Asp168Ala) c.65+35A>C c.468+35A>C (n.468+35A>C) n.2815A>C c.455A>C (p.Asp152Ala) c.432+35A>C (n.432+35A>C) c.188A>C (p.Asp63Ala) c.-129+35A>C (n.-129+35A>C) | ClinVar dbSNP |
| X | g.154031361T= | CA2466570994 | MECP2 | c.467A= (p.Asp156=) c.503A= (p.Asp168=) c.65+35A= c.468+35A= (n.468+35A=) n.2815A= c.455A= (p.Asp152=) c.432+35A= (n.432+35A=) c.188A= (p.Asp63=) c.-129+35A= (n.-129+35A=) | |
| X | g.154031362C>A | CA415174595 | MECP2 | c.466G>T (p.Asp156Tyr) c.502G>T (p.Asp168Tyr) c.65+34G>T c.468+34G>T (n.468+34G>T) n.2814G>T c.454G>T (p.Asp152Tyr) c.432+34G>T (n.432+34G>T) c.187G>T (p.Asp63Tyr) c.-129+34G>T (n.-129+34G>T) | ClinVar dbSNP |
| X | g.154031362C= | CA2466570995 | MECP2 | c.466G= (p.Asp156=) c.502G= (p.Asp168=) c.65+34G= c.468+34G= (n.468+34G=) n.2814G= c.454G= (p.Asp152=) c.432+34G= (n.432+34G=) c.187G= (p.Asp63=) c.-129+34G= (n.-129+34G=) | |
| X | g.154031362C>G | CA415174593 | MECP2 | c.466G>C (p.Asp156His) c.502G>C (p.Asp168His) c.65+34G>C c.468+34G>C (n.468+34G>C) n.2814G>C c.454G>C (p.Asp152His) c.432+34G>C (n.432+34G>C) c.187G>C (p.Asp63His) c.-129+34G>C (n.-129+34G>C) | |
| X | g.154031362C>T | CA415174594 | MECP2 | c.466G>A (p.Asp156Asn) c.502G>A (p.Asp168Asn) c.65+34G>A c.468+34G>A (n.468+34G>A) n.2814G>A c.454G>A (p.Asp152Asn) c.432+34G>A (n.432+34G>A) c.187G>A (p.Asp63Asn) c.-129+34G>A (n.-129+34G>A) |