Canonical Allele Identifier: CA232990
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143646
ClinVar RCV Id: RCV000133186
dbSNP Id: rs267608386
MyVariant Identifiers: chrX:g.153296626_153296638del (hg19) chrX:g.154031175_154031187del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031182_154031194del , CM000685.2:g.154031182_154031194del GRCh38
NC_000023.10:g.153296633_153296645del , CM000685.1:g.153296633_153296645del GRCh37
NC_000023.9:g.152949827_152949839del NCBI36
NG_007107.2:g.110941_110953del
NG_007107.3:g.110917_110929del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.641_653del MANE Plus Clinical ENSP00000301948.6:p.Glu214GlyfsTer30
ENST00000453960.7:c.677_689del MANE Select ENSP00000395535.2:p.Glu226GlyfsTer30
ENST00000637917.1:c.65+209_65+221del
ENST00000303391.10:c.641_653del ENSP00000301948.6:p.Glu214GlyfsTer30
ENST00000407218.5:c.*13_*25del ENSP00000384865.2:n.*13_*25del
ENST00000453960.6:c.677_689del ENSP00000395535.2:p.Glu226GlyfsTer30
ENST00000619732.4:c.641_653del ENSP00000480973.1:p.Glu214GlyfsTer30
ENST00000622433.4:c.629_641del ENSP00000484470.1:p.Glu210GlyfsTer30
ENST00000628176.2:c.*13_*25del ENSP00000486978.1:n.*13_*25del
NM_001110792.1:c.677_689del NP_001104262.1:p.Glu226GlyfsTer30
NM_001316337.1:c.362_374del NP_001303266.1:p.Glu121GlyfsTer30
NM_004992.3:c.641_653del NP_004983.1:p.Glu214GlyfsTer30
XM_005274681.3:c.641_653del XP_005274738.1:p.Glu214GlyfsTer30
XM_005274682.3:c.362_374del XP_005274739.1:p.Glu121GlyfsTer30
XM_005274683.3:c.362_374del XP_005274740.1:p.Glu121GlyfsTer30
XM_006724819.2:c.-29_-17del XP_006724882.1:n.-29_-17del
XM_011531166.1:c.362_374del XP_011529468.1:p.Glu121GlyfsTer30
XM_006724819.3:c.-29_-17del XP_006724882.1:n.-29_-17del
XM_011531166.2:c.362_374del XP_011529468.1:p.Glu121GlyfsTer30
XM_024452383.1:c.362_374del XP_024308151.1:p.Glu121GlyfsTer30
XM_024452384.1:c.362_374del XP_024308152.1:p.Glu121GlyfsTer30
NM_001110792.2:c.677_689del MANE Select NP_001104262.1:p.Glu226GlyfsTer30
NM_001316337.2:c.362_374del NP_001303266.1:p.Glu121GlyfsTer30
NM_001369391.2:c.362_374del NP_001356320.1:p.Glu121GlyfsTer30
NM_001369392.2:c.362_374del NP_001356321.1:p.Glu121GlyfsTer30
NM_001369393.2:c.362_374del NP_001356322.1:p.Glu121GlyfsTer30
NM_001369394.1:c.362_374del NP_001356323.1:p.Glu121GlyfsTer30
NM_001369394.2:c.362_374del NP_001356323.1:p.Glu121GlyfsTer30
NM_001386137.1:c.-29_-17del NP_001373066.1:n.-29_-17del
NM_001386138.1:c.-29_-17del NP_001373067.1:n.-29_-17del
NM_001386139.1:c.-29_-17del NP_001373068.1:n.-29_-17del
NM_004992.4:c.641_653del MANE Plus Clinical NP_004983.1:p.Glu214GlyfsTer30
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