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.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.154032380T>A | CA519704944 | MECP2 | c.204A>T (p.Ser68=) c.240A>T (p.Ser80=) c.*258A>T (n.*258A>T) n.2552A>T n.335A>T c.192A>T (p.Ser64=) n.483A>T c.-76A>T (n.-76A>T) c.-357A>T (n.-357A>T) | |
| X | g.154032380T>C | CA519704945 | MECP2 | c.204A>G (p.Ser68=) c.240A>G (p.Ser80=) c.*258A>G (n.*258A>G) n.2552A>G n.335A>G c.192A>G (p.Ser64=) n.483A>G c.-76A>G (n.-76A>G) c.-357A>G (n.-357A>G) | |
| X | g.154032380T>G | CA519704946 | MECP2 | c.204A>C (p.Ser68=) c.240A>C (p.Ser80=) c.*258A>C (n.*258A>C) n.2552A>C n.335A>C c.192A>C (p.Ser64=) n.483A>C c.-76A>C (n.-76A>C) c.-357A>C (n.-357A>C) | gnomAD v4 |
| X | g.154032381G>A | CA415177521 | MECP2 | c.203C>T (p.Ser68Leu) c.239C>T (p.Ser80Leu) c.*257C>T (n.*257C>T) n.2551C>T n.334C>T c.191C>T (p.Ser64Leu) n.482C>T c.-77C>T (n.-77C>T) c.-358C>T (n.-358C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154032381G>C | CA270298 | MECP2 | c.203C>G (p.Ser68Ter) c.239C>G (p.Ser80Ter) c.*257C>G (n.*257C>G) n.2551C>G n.334C>G c.191C>G (p.Ser64Ter) n.482C>G c.-77C>G (n.-77C>G) c.-358C>G (n.-358C>G) | ClinVar dbSNP |
| X | g.154032381G= | CA2466571599 | MECP2 | c.203C= (p.Ser68=) c.239C= (p.Ser80=) c.*257C= (n.*257C=) n.2551C= n.334C= c.191C= (p.Ser64=) n.482C= c.-77C= (n.-77C=) c.-358C= (n.-358C=) | |
| X | g.154032381G>T | CA415177523 | MECP2 | c.203C>A (p.Ser68Ter) c.239C>A (p.Ser80Ter) c.*257C>A (n.*257C>A) n.2551C>A n.334C>A c.191C>A (p.Ser64Ter) n.482C>A c.-77C>A (n.-77C>A) c.-358C>A (n.-358C>A) | |
| X | g.154032382A>C | CA415177526 | MECP2 | c.202T>G (p.Ser68Ala) c.238T>G (p.Ser80Ala) c.*256T>G (n.*256T>G) n.2550T>G n.333T>G c.190T>G (p.Ser64Ala) n.481T>G c.-78T>G (n.-78T>G) c.-359T>G (n.-359T>G) | |
| X | g.154032382A>G | CA415177529 | MECP2 | c.202T>C (p.Ser68Pro) c.238T>C (p.Ser80Pro) c.*256T>C (n.*256T>C) n.2550T>C n.333T>C c.190T>C (p.Ser64Pro) n.481T>C c.-78T>C (n.-78T>C) c.-359T>C (n.-359T>C) | |
| X | g.154032382A>T | CA415177530 | MECP2 | c.202T>A (p.Ser68Thr) c.238T>A (p.Ser80Thr) c.*256T>A (n.*256T>A) n.2550T>A n.333T>A c.190T>A (p.Ser64Thr) n.481T>A c.-78T>A (n.-78T>A) c.-359T>A (n.-359T>A) | |
| X | g.154032382_154032383delinsAC | CA2466571600 | MECP2 | c.201_202delinsGT (p.Gly67=) c.237_238delinsGT (p.Gly79=) c.*255_*256delinsGT (n.*255_*256delinsGT) n.2549_2550delinsGT n.332_333delinsGT c.189_190delinsGT (p.Gly63=) n.480_481delinsGT c.-79_-78delinsGT (n.-79_-78delinsGT) c.-360_-359delinsGT (n.-360_-359delinsGT) | |
| X | g.154032383C>A | CA519704948 | MECP2 | c.201G>T (p.Gly67=) c.237G>T (p.Gly79=) c.*255G>T (n.*255G>T) n.2549G>T n.332G>T c.189G>T (p.Gly63=) n.480G>T c.-79G>T (n.-79G>T) c.-360G>T (n.-360G>T) | |
| X | g.154032383C>G | CA519704949 | MECP2 | c.201G>C (p.Gly67=) c.237G>C (p.Gly79=) c.*255G>C (n.*255G>C) n.2549G>C n.332G>C c.189G>C (p.Gly63=) n.480G>C c.-79G>C (n.-79G>C) c.-360G>C (n.-360G>C) | |
| X | g.154032383C>T | CA519704950 | MECP2 | c.201G>A (p.Gly67=) c.237G>A (p.Gly79=) c.*255G>A (n.*255G>A) n.2549G>A n.332G>A c.189G>A (p.Gly63=) n.480G>A c.-79G>A (n.-79G>A) c.-360G>A (n.-360G>A) | |
| X | g.154032385del | CA270297 | MECP2 | c.201del (p.Ser68GlnfsTer?) c.237del (p.Ser80GlnfsTer?) c.*255del (n.*255del) n.2549del n.332del c.189del (p.Ser64GlnfsTer?) n.480del c.-79del (n.-79del) c.-360del (n.-360del) | ClinVar dbSNP |
| X | g.154032384C>A | CA337265756 | MECP2 | c.200G>T (p.Gly67Val) c.236G>T (p.Gly79Val) c.*254G>T (n.*254G>T) n.2548G>T n.331G>T c.188G>T (p.Gly63Val) n.479G>T c.-80G>T (n.-80G>T) c.-361G>T (n.-361G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154032384C= | CA2466571601 | MECP2 | c.200G= (p.Gly67=) c.236G= (p.Gly79=) c.*254G= (n.*254G=) n.2548G= n.331G= c.188G= (p.Gly63=) n.479G= c.-80G= (n.-80G=) c.-361G= (n.-361G=) | |
| X | g.154032384C>G | CA415177531 | MECP2 | c.200G>C (p.Gly67Ala) c.236G>C (p.Gly79Ala) c.*254G>C (n.*254G>C) n.2548G>C n.331G>C c.188G>C (p.Gly63Ala) n.479G>C c.-80G>C (n.-80G>C) c.-361G>C (n.-361G>C) | |
| X | g.154032384C>T | CA415177532 | MECP2 | c.200G>A (p.Gly67Glu) c.236G>A (p.Gly79Glu) c.*254G>A (n.*254G>A) n.2548G>A n.331G>A c.188G>A (p.Gly63Glu) n.479G>A c.-80G>A (n.-80G>A) c.-361G>A (n.-361G>A) | |
| X | g.154032385C>A | CA10558650 | MECP2 | c.199G>T (p.Gly67Trp) c.235G>T (p.Gly79Trp) c.*253G>T (n.*253G>T) n.2547G>T n.330G>T c.187G>T (p.Gly63Trp) n.478G>T c.-81G>T (n.-81G>T) c.-362G>T (n.-362G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154032385C= | CA2466571602 | MECP2 | c.199G= (p.Gly67=) c.235G= (p.Gly79=) c.*253G= (n.*253G=) n.2547G= n.330G= c.187G= (p.Gly63=) n.478G= c.-81G= (n.-81G=) c.-362G= (n.-362G=) | |
| X | g.154032385C>G | CA415177533 | MECP2 | c.199G>C (p.Gly67Arg) c.235G>C (p.Gly79Arg) c.*253G>C (n.*253G>C) n.2547G>C n.330G>C c.187G>C (p.Gly63Arg) n.478G>C c.-81G>C (n.-81G>C) c.-362G>C (n.-362G>C) | |
| X | g.154032385C>T | CA415177535 | MECP2 | c.199G>A (p.Gly67Arg) c.235G>A (p.Gly79Arg) c.*253G>A (n.*253G>A) n.2547G>A n.330G>A c.187G>A (p.Gly63Arg) n.478G>A c.-81G>A (n.-81G>A) c.-362G>A (n.-362G>A) | |
| X | g.154032386T>A | CA415177538 | MECP2 | c.198A>T (p.Glu66Asp) c.234A>T (p.Glu78Asp) c.*252A>T (n.*252A>T) n.2546A>T n.329A>T c.186A>T (p.Glu62Asp) n.477A>T c.-82A>T (n.-82A>T) c.-363A>T (n.-363A>T) | |
| X | g.154032386T>C | CA519704956 | MECP2 | c.198A>G (p.Glu66=) c.234A>G (p.Glu78=) c.*252A>G (n.*252A>G) n.2546A>G n.329A>G c.186A>G (p.Glu62=) n.477A>G c.-82A>G (n.-82A>G) c.-363A>G (n.-363A>G) | |
| X | g.154032386T>G | CA415177537 | MECP2 | c.198A>C (p.Glu66Asp) c.234A>C (p.Glu78Asp) c.*252A>C (n.*252A>C) n.2546A>C n.329A>C c.186A>C (p.Glu62Asp) n.477A>C c.-82A>C (n.-82A>C) c.-363A>C (n.-363A>C) | |
| X | g.154032387T>A | CA415177540 | MECP2 | c.197A>T (p.Glu66Val) c.233A>T (p.Glu78Val) c.*251A>T (n.*251A>T) n.2545A>T n.328A>T c.185A>T (p.Glu62Val) n.476A>T c.-83A>T (n.-83A>T) c.-364A>T (n.-364A>T) | |
| X | g.154032387T>C | CA415177542 | MECP2 | c.197A>G (p.Glu66Gly) c.233A>G (p.Glu78Gly) c.*251A>G (n.*251A>G) n.2545A>G n.328A>G c.185A>G (p.Glu62Gly) n.476A>G c.-83A>G (n.-83A>G) c.-364A>G (n.-364A>G) | |
| X | g.154032387T>G | CA415177545 | MECP2 | c.197A>C (p.Glu66Ala) c.233A>C (p.Glu78Ala) c.*251A>C (n.*251A>C) n.2545A>C n.328A>C c.185A>C (p.Glu62Ala) n.476A>C c.-83A>C (n.-83A>C) c.-364A>C (n.-364A>C) | |
| X | g.154032388C>A | CA415177547 | MECP2 | c.196G>T (p.Glu66Ter) c.232G>T (p.Glu78Ter) c.*250G>T (n.*250G>T) n.2544G>T n.327G>T c.184G>T (p.Glu62Ter) n.475G>T c.-84G>T (n.-84G>T) c.-365G>T (n.-365G>T) | |
| X | g.154032388C>G | CA415177551 | MECP2 | c.196G>C (p.Glu66Gln) c.232G>C (p.Glu78Gln) c.*250G>C (n.*250G>C) n.2544G>C n.327G>C c.184G>C (p.Glu62Gln) n.475G>C c.-84G>C (n.-84G>C) c.-365G>C (n.-365G>C) | |
| X | g.154032388C>T | CA415177553 | MECP2 | c.196G>A (p.Glu66Lys) c.232G>A (p.Glu78Lys) c.*250G>A (n.*250G>A) n.2544G>A n.327G>A c.184G>A (p.Glu62Lys) n.475G>A c.-84G>A (n.-84G>A) c.-365G>A (n.-365G>A) | |
| X | g.154032389del | CA2499226478 | MECP2 | c.195del (p.Glu66LysfsTer?) c.231del (p.Glu78LysfsTer?) c.*249del (n.*249del) n.2543del n.326del c.183del (p.Glu62LysfsTer?) n.474del c.-85del (n.-85del) c.-366del (n.-366del) | ClinVar dbSNP |
| X | g.154032389T>A | CA519704958 | MECP2 | c.195A>T (p.Ser65=) c.231A>T (p.Ser77=) c.*249A>T (n.*249A>T) n.2543A>T n.326A>T c.183A>T (p.Ser61=) n.474A>T c.-85A>T (n.-85A>T) c.-366A>T (n.-366A>T) | |
| X | g.154032389T>C | CA10558651 | MECP2 | c.195A>G (p.Ser65=) c.231A>G (p.Ser77=) c.*249A>G (n.*249A>G) n.2543A>G n.326A>G c.183A>G (p.Ser61=) n.474A>G c.-85A>G (n.-85A>G) c.-366A>G (n.-366A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154032389T>G | CA519704959 | MECP2 | c.195A>C (p.Ser65=) c.231A>C (p.Ser77=) c.*249A>C (n.*249A>C) n.2543A>C n.326A>C c.183A>C (p.Ser61=) n.474A>C c.-85A>C (n.-85A>C) c.-366A>C (n.-366A>C) | |
| X | g.154032389T= | CA2466571603 | MECP2 | c.195A= (p.Ser65=) c.231A= (p.Ser77=) c.*249A= (n.*249A=) n.2543A= n.326A= c.183A= (p.Ser61=) n.474A= c.-85A= (n.-85A=) c.-366A= (n.-366A=) |