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 |
|---|---|---|---|---|---|
| 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.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.154032316C>A | CA415177162 | MECP2 | c.268G>T (p.Asp90Tyr) c.304G>T (p.Asp102Tyr) c.*322G>T (n.*322G>T) n.2616G>T c.256G>T (p.Asp86Tyr) c.-12G>T (n.-12G>T) c.-293G>T (n.-293G>T) | |
| X | g.154032316C>G | CA415177164 | MECP2 | c.268G>C (p.Asp90His) c.304G>C (p.Asp102His) c.*322G>C (n.*322G>C) n.2616G>C c.256G>C (p.Asp86His) c.-12G>C (n.-12G>C) c.-293G>C (n.-293G>C) | ClinVar |
| X | g.154032316C>T | CA415177166 | MECP2 | c.268G>A (p.Asp90Asn) c.304G>A (p.Asp102Asn) c.*322G>A (n.*322G>A) n.2616G>A c.256G>A (p.Asp86Asn) c.-12G>A (n.-12G>A) c.-293G>A (n.-293G>A) | |
| X | g.154032317A>C | CA519705462 | MECP2 | c.267T>G (p.Arg89=) c.303T>G (p.Arg101=) c.*321T>G (n.*321T>G) n.2615T>G c.255T>G (p.Arg85=) c.-13T>G (n.-13T>G) c.-294T>G (n.-294T>G) | |
| X | g.154032317A>G | CA519705463 | MECP2 | c.267T>C (p.Arg89=) c.303T>C (p.Arg101=) c.*321T>C (n.*321T>C) n.2615T>C c.255T>C (p.Arg85=) c.-13T>C (n.-13T>C) c.-294T>C (n.-294T>C) | |
| X | g.154032317A>T | CA519705464 | MECP2 | c.267T>A (p.Arg89=) c.303T>A (p.Arg101=) c.*321T>A (n.*321T>A) n.2615T>A c.255T>A (p.Arg85=) c.-13T>A (n.-13T>A) c.-294T>A (n.-294T>A) | |
| X | g.154032318C>A | CA415177175 | MECP2 | c.266G>T (p.Arg89Leu) c.302G>T (p.Arg101Leu) c.*320G>T (n.*320G>T) n.2614G>T c.254G>T (p.Arg85Leu) c.-14G>T (n.-14G>T) c.-295G>T (n.-295G>T) | |
| X | g.154032318C>G | CA415177172 | MECP2 | c.266G>C (p.Arg89Pro) c.302G>C (p.Arg101Pro) c.*320G>C (n.*320G>C) n.2614G>C c.254G>C (p.Arg85Pro) c.-14G>C (n.-14G>C) c.-295G>C (n.-295G>C) | |
| X | g.154032318C>T | CA415177169 | MECP2 | c.266G>A (p.Arg89His) c.302G>A (p.Arg101His) c.*320G>A (n.*320G>A) n.2614G>A c.254G>A (p.Arg85His) c.-14G>A (n.-14G>A) c.-295G>A (n.-295G>A) | |
| X | g.154032319G>A | CA10558644 | MECP2 | c.265C>T (p.Arg89Cys) c.301C>T (p.Arg101Cys) c.*319C>T (n.*319C>T) n.2613C>T c.253C>T (p.Arg85Cys) c.-15C>T (n.-15C>T) c.-296C>T (n.-296C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154032319G>C | CA415177179 | MECP2 | c.265C>G (p.Arg89Gly) c.301C>G (p.Arg101Gly) c.*319C>G (n.*319C>G) n.2613C>G c.253C>G (p.Arg85Gly) c.-15C>G (n.-15C>G) c.-296C>G (n.-296C>G) | |
| X | g.154032319G= | CA2466571566 | MECP2 | c.265C= (p.Arg89=) c.301C= (p.Arg101=) c.*319C= (n.*319C=) n.2613C= c.253C= (p.Arg85=) c.-15C= (n.-15C=) c.-296C= (n.-296C=) | |
| X | g.154032319G>T | CA415177180 | MECP2 | c.265C>A (p.Arg89Ser) c.301C>A (p.Arg101Ser) c.*319C>A (n.*319C>A) n.2613C>A c.253C>A (p.Arg85Ser) c.-15C>A (n.-15C>A) c.-296C>A (n.-296C>A) | |
| X | g.154032320G>A | CA519705478 | MECP2 | c.264C>T (p.Ile88=) c.300C>T (p.Ile100=) c.*318C>T (n.*318C>T) n.2612C>T c.252C>T (p.Ile84=) c.-16C>T (n.-16C>T) c.-297C>T (n.-297C>T) | gnomAD v4 |
| X | g.154032320G>C | CA415177182 | MECP2 | c.264C>G (p.Ile88Met) c.300C>G (p.Ile100Met) c.*318C>G (n.*318C>G) n.2612C>G c.252C>G (p.Ile84Met) c.-16C>G (n.-16C>G) c.-297C>G (n.-297C>G) | |
| X | g.154032320G>T | CA519705477 | MECP2 | c.264C>A (p.Ile88=) c.300C>A (p.Ile100=) c.*318C>A (n.*318C>A) n.2612C>A c.252C>A (p.Ile84=) c.-16C>A (n.-16C>A) c.-297C>A (n.-297C>A) | |
| X | g.154032321A>C | CA415177187 | MECP2 | c.263T>G (p.Ile88Ser) c.299T>G (p.Ile100Ser) c.*317T>G (n.*317T>G) n.2611T>G c.251T>G (p.Ile84Ser) c.-17T>G (n.-17T>G) c.-298T>G (n.-298T>G) | |
| X | g.154032321A>G | CA415177193 | MECP2 | c.263T>C (p.Ile88Thr) c.299T>C (p.Ile100Thr) c.*317T>C (n.*317T>C) n.2611T>C c.251T>C (p.Ile84Thr) c.-17T>C (n.-17T>C) c.-298T>C (n.-298T>C) | |
| X | g.154032321A>T | CA415177196 | MECP2 | c.263T>A (p.Ile88Asn) c.299T>A (p.Ile100Asn) c.*317T>A (n.*317T>A) n.2611T>A c.251T>A (p.Ile84Asn) c.-17T>A (n.-17T>A) c.-298T>A (n.-298T>A) | |
| X | g.154032322T>A | CA415177199 | MECP2 | c.262A>T (p.Ile88Phe) c.298A>T (p.Ile100Phe) c.*316A>T (n.*316A>T) n.2610A>T c.250A>T (p.Ile84Phe) c.-18A>T (n.-18A>T) c.-299A>T (n.-299A>T) | |
| X | g.154032322T>C | CA415177200 | MECP2 | c.262A>G (p.Ile88Val) c.298A>G (p.Ile100Val) c.*316A>G (n.*316A>G) n.2610A>G c.250A>G (p.Ile84Val) c.-18A>G (n.-18A>G) c.-299A>G (n.-299A>G) | gnomAD v4 |
| X | g.154032322T>G | CA415177201 | MECP2 | c.262A>C (p.Ile88Leu) c.298A>C (p.Ile100Leu) c.*316A>C (n.*316A>C) n.2610A>C c.250A>C (p.Ile84Leu) c.-18A>C (n.-18A>C) c.-299A>C (n.-299A>C) | |
| X | g.154032323G>A | CA519705489 | MECP2 | c.261C>T (p.Ile87=) c.297C>T (p.Ile99=) c.*315C>T (n.*315C>T) n.2609C>T c.249C>T (p.Ile83=) c.-19C>T (n.-19C>T) c.-300C>T (n.-300C>T) | COSMIC |
| X | g.154032323G>C | CA415177203 | MECP2 | c.261C>G (p.Ile87Met) c.297C>G (p.Ile99Met) c.*315C>G (n.*315C>G) n.2609C>G c.249C>G (p.Ile83Met) c.-19C>G (n.-19C>G) c.-300C>G (n.-300C>G) | |
| X | g.154032323G= | CA2466571567 | MECP2 | c.261C= (p.Ile87=) c.297C= (p.Ile99=) c.*315C= (n.*315C=) n.2609C= c.249C= (p.Ile83=) c.-19C= (n.-19C=) c.-300C= (n.-300C=) | |
| X | g.154032323G>T | CA519705491 | MECP2 | c.261C>A (p.Ile87=) c.297C>A (p.Ile99=) c.*315C>A (n.*315C>A) n.2609C>A c.249C>A (p.Ile83=) c.-19C>A (n.-19C>A) c.-300C>A (n.-300C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154032324A>C | CA415177212 | MECP2 | c.260T>G (p.Ile87Ser) c.296T>G (p.Ile99Ser) c.*314T>G (n.*314T>G) n.2608T>G c.248T>G (p.Ile83Ser) c.-20T>G (n.-20T>G) c.-301T>G (n.-301T>G) | |
| X | g.154032324A>G | CA415177208 | MECP2 | c.260T>C (p.Ile87Thr) c.296T>C (p.Ile99Thr) c.*314T>C (n.*314T>C) n.2608T>C c.248T>C (p.Ile83Thr) c.-20T>C (n.-20T>C) c.-301T>C (n.-301T>C) | |
| X | g.154032324A>T | CA415177207 | MECP2 | c.260T>A (p.Ile87Asn) c.296T>A (p.Ile99Asn) c.*314T>A (n.*314T>A) n.2608T>A c.248T>A (p.Ile83Asn) c.-20T>A (n.-20T>A) c.-301T>A (n.-301T>A) | |
| X | g.154032324_154032326delinsATG | CA2466571568 | MECP2 | c.258_260delinsCAT (p.Ser86=) c.294_296delinsCAT (p.Ser98=) c.*312_*314delinsCAT (n.*312_*314delinsCAT) n.2606_2608delinsCAT c.246_248delinsCAT (p.Ser82=) c.-22_-20delinsCAT (n.-22_-20delinsCAT) c.-303_-301delinsCAT (n.-303_-301delinsCAT) | |
| X | g.154032325T>A | CA415177213 | MECP2 | c.259A>T (p.Ile87Phe) c.295A>T (p.Ile99Phe) c.*313A>T (n.*313A>T) n.2607A>T c.247A>T (p.Ile83Phe) c.-21A>T (n.-21A>T) c.-302A>T (n.-302A>T) | |
| X | g.154032325T>C | CA415177217 | MECP2 | c.259A>G (p.Ile87Val) c.295A>G (p.Ile99Val) c.*313A>G (n.*313A>G) n.2607A>G c.247A>G (p.Ile83Val) c.-21A>G (n.-21A>G) c.-302A>G (n.-302A>G) | gnomAD v4 |
| X | g.154032325T>G | CA415177221 | MECP2 | c.259A>C (p.Ile87Leu) c.295A>C (p.Ile99Leu) c.*313A>C (n.*313A>C) n.2607A>C c.247A>C (p.Ile83Leu) c.-21A>C (n.-21A>C) c.-302A>C (n.-302A>C) | |
| X | g.154032325_154032326del | CA270308 | MECP2 | c.258_259del (p.Ile87HisfsTer3) c.294_295del (p.Ile99HisfsTer3) c.*312_*313del (n.*312_*313del) n.2606_2607del c.246_247del (p.Ile83HisfsTer3) c.-22_-21del (n.-22_-21del) c.-303_-302del (n.-303_-302del) | ClinVar dbSNP |
| X | g.154032326G>A | CA519705508 | MECP2 | c.258C>T (p.Ser86=) c.294C>T (p.Ser98=) c.*312C>T (n.*312C>T) n.2606C>T c.246C>T (p.Ser82=) c.-22C>T (n.-22C>T) c.-303C>T (n.-303C>T) | ClinVar |
| X | g.154032326G>C | CA519705509 | MECP2 | c.258C>G (p.Ser86=) c.294C>G (p.Ser98=) c.*312C>G (n.*312C>G) n.2606C>G c.246C>G (p.Ser82=) c.-22C>G (n.-22C>G) c.-303C>G (n.-303C>G) | |
| X | g.154032326G>T | CA519705514 | MECP2 | c.258C>A (p.Ser86=) c.294C>A (p.Ser98=) c.*312C>A (n.*312C>A) n.2606C>A c.246C>A (p.Ser82=) c.-22C>A (n.-22C>A) c.-303C>A (n.-303C>A) |