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.154032281A>C | CA519705337 | MECP2 | c.303T>G (p.Pro101=) c.339T>G (p.Pro113=) c.*357T>G (n.*357T>G) n.2651T>G c.291T>G (p.Pro97=) c.24T>G (p.Pro8=) c.-258T>G (n.-258T>G) | |
| X | g.154032281A>G | CA519705338 | MECP2 | c.303T>C (p.Pro101=) c.339T>C (p.Pro113=) c.*357T>C (n.*357T>C) n.2651T>C c.291T>C (p.Pro97=) c.24T>C (p.Pro8=) c.-258T>C (n.-258T>C) | |
| X | g.154032281A>T | CA519705339 | MECP2 | c.303T>A (p.Pro101=) c.339T>A (p.Pro113=) c.*357T>A (n.*357T>A) n.2651T>A c.291T>A (p.Pro97=) c.24T>A (p.Pro8=) c.-258T>A (n.-258T>A) | |
| X | g.154032282G>A | CA270332 | MECP2 | c.302C>T (p.Pro101Leu) c.338C>T (p.Pro113Leu) c.*356C>T (n.*356C>T) n.2650C>T c.290C>T (p.Pro97Leu) c.23C>T (p.Pro8Leu) c.-259C>T (n.-259C>T) | ClinVar dbSNP |
| X | g.154032282G>C | CA274626 | MECP2 | c.302C>G (p.Pro101Arg) c.338C>G (p.Pro113Arg) c.*356C>G (n.*356C>G) n.2650C>G c.290C>G (p.Pro97Arg) c.23C>G (p.Pro8Arg) c.-259C>G (n.-259C>G) | ClinVar dbSNP |
| X | g.154032282G= | CA2466571546 | MECP2 | c.302C= (p.Pro101=) c.338C= (p.Pro113=) c.*356C= (n.*356C=) n.2650C= c.290C= (p.Pro97=) c.23C= (p.Pro8=) c.-259C= (n.-259C=) | |
| X | g.154032282G>T | CA270330 | MECP2 | c.302C>A (p.Pro101His) c.338C>A (p.Pro113His) c.*356C>A (n.*356C>A) n.2650C>A c.290C>A (p.Pro97His) c.23C>A (p.Pro8His) c.-259C>A (n.-259C>A) | ClinVar dbSNP |
| X | g.154032283G>A | CA270328 | MECP2 | c.301C>T (p.Pro101Ser) c.337C>T (p.Pro113Ser) c.*355C>T (n.*355C>T) n.2649C>T c.289C>T (p.Pro97Ser) c.22C>T (p.Pro8Ser) c.-260C>T (n.-260C>T) | ClinVar dbSNP |
| X | g.154032283G>C | CA415176910 | MECP2 | c.301C>G (p.Pro101Ala) c.337C>G (p.Pro113Ala) c.*355C>G (n.*355C>G) n.2649C>G c.289C>G (p.Pro97Ala) c.22C>G (p.Pro8Ala) c.-260C>G (n.-260C>G) | |
| X | g.154032283G= | CA2466571547 | MECP2 | c.301C= (p.Pro101=) c.337C= (p.Pro113=) c.*355C= (n.*355C=) n.2649C= c.289C= (p.Pro97=) c.22C= (p.Pro8=) c.-260C= (n.-260C=) | |
| X | g.154032283G>T | CA415176913 | MECP2 | c.301C>A (p.Pro101Thr) c.337C>A (p.Pro113Thr) c.*355C>A (n.*355C>A) n.2649C>A c.289C>A (p.Pro97Thr) c.22C>A (p.Pro8Thr) c.-260C>A (n.-260C>A) | ClinVar dbSNP |
| X | g.154032284C>A | CA519705349 | MECP2 | c.300G>T (p.Leu100=) c.336G>T (p.Leu112=) c.*354G>T (n.*354G>T) n.2648G>T c.288G>T (p.Leu96=) c.21G>T (p.Leu7=) c.-261G>T (n.-261G>T) | gnomAD v4 |
| X | g.154032284C>G | CA519705346 | MECP2 | c.300G>C (p.Leu100=) c.336G>C (p.Leu112=) c.*354G>C (n.*354G>C) n.2648G>C c.288G>C (p.Leu96=) c.21G>C (p.Leu7=) c.-261G>C (n.-261G>C) | |
| X | g.154032284C>T | CA519705347 | MECP2 | c.300G>A (p.Leu100=) c.336G>A (p.Leu112=) c.*354G>A (n.*354G>A) n.2648G>A c.288G>A (p.Leu96=) c.21G>A (p.Leu7=) c.-261G>A (n.-261G>A) | ClinVar gnomAD v4 |
| X | g.154032285A= | CA2466571548 | MECP2 | c.299T= (p.Leu100=) c.335T= (p.Leu112=) c.*353T= (n.*353T=) n.2647T= c.287T= (p.Leu96=) c.20T= (p.Leu7=) c.-262T= (n.-262T=) | |
| X | g.154032285A>C | CA270326 | MECP2 | c.299T>G (p.Leu100Arg) c.335T>G (p.Leu112Arg) c.*353T>G (n.*353T>G) n.2647T>G c.287T>G (p.Leu96Arg) c.20T>G (p.Leu7Arg) c.-262T>G (n.-262T>G) | ClinVar dbSNP |
| X | g.154032285A>G | CA415176928 | MECP2 | c.299T>C (p.Leu100Pro) c.335T>C (p.Leu112Pro) c.*353T>C (n.*353T>C) n.2647T>C c.287T>C (p.Leu96Pro) c.20T>C (p.Leu7Pro) c.-262T>C (n.-262T>C) | |
| X | g.154032285A>T | CA415176929 | MECP2 | c.299T>A (p.Leu100Gln) c.335T>A (p.Leu112Gln) c.*353T>A (n.*353T>A) n.2647T>A c.287T>A (p.Leu96Gln) c.20T>A (p.Leu7Gln) c.-262T>A (n.-262T>A) | |
| X | g.154032286G>A | CA519705352 | MECP2 | c.298C>T (p.Leu100=) c.334C>T (p.Leu112=) c.*352C>T (n.*352C>T) n.2646C>T c.286C>T (p.Leu96=) c.19C>T (p.Leu7=) c.-263C>T (n.-263C>T) | |
| X | g.154032286G>C | CA198822 | MECP2 | c.298C>G (p.Leu100Val) c.334C>G (p.Leu112Val) c.*352C>G (n.*352C>G) n.2646C>G c.286C>G (p.Leu96Val) c.19C>G (p.Leu7Val) c.-263C>G (n.-263C>G) | ClinVar dbSNP |
| X | g.154032286G= | CA2466571549 | MECP2 | c.298C= (p.Leu100=) c.334C= (p.Leu112=) c.*352C= (n.*352C=) n.2646C= c.286C= (p.Leu96=) c.19C= (p.Leu7=) c.-263C= (n.-263C=) | |
| X | g.154032286G>T | CA415176935 | MECP2 | c.298C>A (p.Leu100Met) c.334C>A (p.Leu112Met) c.*352C>A (n.*352C>A) n.2646C>A c.286C>A (p.Leu96Met) c.19C>A (p.Leu7Met) c.-263C>A (n.-263C>A) | |
| X | g.154032286_154032289delinsGGGT | CA2466571550 | MECP2 | c.295_298delinsACCC (p.Thr99=) c.331_334delinsACCC (p.Thr111=) c.*349_*352delinsACCC (n.*349_*352delinsACCC) n.2643_2646delinsACCC c.283_286delinsACCC (p.Thr95=) c.16_19delinsACCC (p.Thr6=) c.-266_-263delinsACCC (n.-266_-263delinsACCC) | |
| X | g.154032287G>A | CA519705356 | MECP2 | c.297C>T (p.Thr99=) c.333C>T (p.Thr111=) c.*351C>T (n.*351C>T) n.2645C>T c.285C>T (p.Thr95=) c.18C>T (p.Thr6=) c.-264C>T (n.-264C>T) | |
| X | g.154032287G>C | CA170284 | MECP2 | c.297C>G (p.Thr99=) c.333C>G (p.Thr111=) c.*351C>G (n.*351C>G) n.2645C>G c.285C>G (p.Thr95=) c.18C>G (p.Thr6=) c.-264C>G (n.-264C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154032287G= | CA2466571551 | MECP2 | c.297C= (p.Thr99=) c.333C= (p.Thr111=) c.*351C= (n.*351C=) n.2645C= c.285C= (p.Thr95=) c.18C= (p.Thr6=) c.-264C= (n.-264C=) | |
| X | g.154032287G>T | CA519705358 | MECP2 | c.297C>A (p.Thr99=) c.333C>A (p.Thr111=) c.*351C>A (n.*351C>A) n.2645C>A c.285C>A (p.Thr95=) c.18C>A (p.Thr6=) c.-264C>A (n.-264C>A) | |
| X | g.154032289_154032291del | CA270325 | MECP2 | c.295_297del (p.Thr99del) c.331_333del (p.Thr111del) c.*349_*351del (n.*349_*351del) n.2643_2645del c.283_285del (p.Thr95del) c.16_18del (p.Thr6del) c.-266_-264del (n.-266_-264del) | ClinVar dbSNP |
| X | g.154032288G>A | CA415176948 | MECP2 | c.296C>T (p.Thr99Ile) c.332C>T (p.Thr111Ile) c.*350C>T (n.*350C>T) n.2644C>T c.284C>T (p.Thr95Ile) c.17C>T (p.Thr6Ile) c.-265C>T (n.-265C>T) | |
| X | g.154032288G>C | CA415176949 | MECP2 | c.296C>G (p.Thr99Ser) c.332C>G (p.Thr111Ser) c.*350C>G (n.*350C>G) n.2644C>G c.284C>G (p.Thr95Ser) c.17C>G (p.Thr6Ser) c.-265C>G (n.-265C>G) | |
| X | g.154032288G= | CA2466571552 | MECP2 | c.296C= (p.Thr99=) c.332C= (p.Thr111=) c.*350C= (n.*350C=) n.2644C= c.284C= (p.Thr95=) c.17C= (p.Thr6=) c.-265C= (n.-265C=) | |
| X | g.154032288G>T | CA415176950 | MECP2 | c.296C>A (p.Thr99Asn) c.332C>A (p.Thr111Asn) c.*350C>A (n.*350C>A) n.2644C>A c.284C>A (p.Thr95Asn) c.17C>A (p.Thr6Asn) c.-265C>A (n.-265C>A) | |
| X | g.154032289T>A | CA415176959 | MECP2 | c.295A>T (p.Thr99Ser) c.331A>T (p.Thr111Ser) c.*349A>T (n.*349A>T) n.2643A>T c.283A>T (p.Thr95Ser) c.16A>T (p.Thr6Ser) c.-266A>T (n.-266A>T) | |
| X | g.154032289T>C | CA415176955 | MECP2 | c.295A>G (p.Thr99Ala) c.331A>G (p.Thr111Ala) c.*349A>G (n.*349A>G) n.2643A>G c.283A>G (p.Thr95Ala) c.16A>G (p.Thr6Ala) c.-266A>G (n.-266A>G) | |
| X | g.154032289T>G | CA415176953 | MECP2 | c.295A>C (p.Thr99Pro) c.331A>C (p.Thr111Pro) c.*349A>C (n.*349A>C) n.2643A>C c.283A>C (p.Thr95Pro) c.16A>C (p.Thr6Pro) c.-266A>C (n.-266A>C) | ClinVar dbSNP |
| X | g.154032289T= | CA2466571553 | MECP2 | c.295A= (p.Thr99=) c.331A= (p.Thr111=) c.*349A= (n.*349A=) n.2643A= c.283A= (p.Thr95=) c.16A= (p.Thr6=) c.-266A= (n.-266A=) |