Canonical Allele Identifier: CA232927
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143422
ClinVar RCV Id: RCV000132948 RCV000445571
dbSNP Id: rs267608333
MyVariant Identifiers: chrX:g.153296074_153296099del (hg19) chrX:g.154030623_154030648del (hg38)
PubMed: PMID:11055898
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030628_154030653del , CM000685.2:g.154030628_154030653del GRCh38
NC_000023.10:g.153296079_153296104del , CM000685.1:g.153296079_153296104del GRCh37
NC_000023.9:g.152949273_152949298del NCBI36
NG_007107.2:g.111480_111505del
NG_007107.3:g.111456_111481del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.1180_1205del MANE Plus Clinical ENSP00000301948.6:p.Glu394ProfsTer2
ENST00000453960.7:c.1216_1241del MANE Select ENSP00000395535.2:p.Glu406ProfsTer2
ENST00000303391.10:c.1180_1205del ENSP00000301948.6:p.Glu394ProfsTer2
ENST00000407218.5:c.*552_*577del ENSP00000384865.2:n.*552_*577del
ENST00000453960.6:c.1216_1241del ENSP00000395535.2:p.Glu406ProfsTer2
ENST00000619732.4:c.1180_1205del ENSP00000480973.1:p.Glu394ProfsTer2
ENST00000628176.2:c.*552_*577del ENSP00000486978.1:n.*552_*577del
NM_001110792.1:c.1216_1241del NP_001104262.1:p.Glu406ProfsTer2
NM_001316337.1:c.901_926del NP_001303266.1:p.Glu301ProfsTer2
NM_004992.3:c.1180_1205del NP_004983.1:p.Glu394ProfsTer2
XM_005274681.3:c.1180_1205del XP_005274738.1:p.Glu394ProfsTer2
XM_005274682.3:c.901_926del XP_005274739.1:p.Glu301ProfsTer2
XM_005274683.3:c.901_926del XP_005274740.1:p.Glu301ProfsTer2
XM_006724819.2:c.511_536del XP_006724882.1:p.Glu171ProfsTer2
XM_011531166.1:c.901_926del XP_011529468.1:p.Glu301ProfsTer2
XM_006724819.3:c.511_536del XP_006724882.1:p.Glu171ProfsTer2
XM_011531166.2:c.901_926del XP_011529468.1:p.Glu301ProfsTer2
XM_024452383.1:c.901_926del XP_024308151.1:p.Glu301ProfsTer2
XM_024452384.1:c.901_926del XP_024308152.1:p.Glu301ProfsTer2
NM_001110792.2:c.1216_1241del MANE Select NP_001104262.1:p.Glu406ProfsTer2
NM_001316337.2:c.901_926del NP_001303266.1:p.Glu301ProfsTer2
NM_001369391.2:c.901_926del NP_001356320.1:p.Glu301ProfsTer2
NM_001369392.2:c.901_926del NP_001356321.1:p.Glu301ProfsTer2
NM_001369393.2:c.901_926del NP_001356322.1:p.Glu301ProfsTer2
NM_001369394.1:c.901_926del NP_001356323.1:p.Glu301ProfsTer2
NM_001369394.2:c.901_926del NP_001356323.1:p.Glu301ProfsTer2
NM_001386137.1:c.511_536del NP_001373066.1:p.Glu171ProfsTer2
NM_001386138.1:c.511_536del NP_001373067.1:p.Glu171ProfsTer2
NM_001386139.1:c.511_536del NP_001373068.1:p.Glu171ProfsTer2
NM_004992.4:c.1180_1205del MANE Plus Clinical NP_004983.1:p.Glu394ProfsTer2
Search 100 bp 5'
Search 100 bp 3'