Canonical Allele Identifier: CA170178
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143342
ClinVar RCV Id: RCV000132867 RCV000494344 RCV000851500
dbSNP Id: rs267608571
MyVariant Identifiers: chrX:g.153296137_153296144del (hg19) chrX:g.154030686_154030693del (hg38)
PubMed: PMID:15558314
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030689_154030696del , CM000685.2:g.154030689_154030696del GRCh38
NC_000023.10:g.153296140_153296147del , CM000685.1:g.153296140_153296147del GRCh37
NC_000023.9:g.152949334_152949341del NCBI36
NG_007107.2:g.111435_111442del
NG_007107.3:g.111411_111418del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.1135_1142del MANE Plus Clinical ENSP00000301948.6:p.Pro379ThrfsTer11
ENST00000453960.7:c.1171_1178del MANE Select ENSP00000395535.2:p.Pro391ThrfsTer11
ENST00000303391.10:c.1135_1142del ENSP00000301948.6:p.Pro379ThrfsTer11
ENST00000407218.5:c.*507_*514del ENSP00000384865.2:n.*507_*514del
ENST00000453960.6:c.1171_1178del ENSP00000395535.2:p.Pro391ThrfsTer11
ENST00000619732.4:c.1135_1142del ENSP00000480973.1:p.Pro379ThrfsTer11
ENST00000628176.2:c.*507_*514del ENSP00000486978.1:n.*507_*514del
NM_001110792.1:c.1171_1178del NP_001104262.1:p.Pro391ThrfsTer11
NM_001316337.1:c.856_863del NP_001303266.1:p.Pro286ThrfsTer11
NM_004992.3:c.1135_1142del NP_004983.1:p.Pro379ThrfsTer11
XM_005274681.3:c.1135_1142del XP_005274738.1:p.Pro379ThrfsTer11
XM_005274682.3:c.856_863del XP_005274739.1:p.Pro286ThrfsTer11
XM_005274683.3:c.856_863del XP_005274740.1:p.Pro286ThrfsTer11
XM_006724819.2:c.466_473del XP_006724882.1:p.Pro156ThrfsTer11
XM_011531166.1:c.856_863del XP_011529468.1:p.Pro286ThrfsTer11
XM_006724819.3:c.466_473del XP_006724882.1:p.Pro156ThrfsTer11
XM_011531166.2:c.856_863del XP_011529468.1:p.Pro286ThrfsTer11
XM_024452383.1:c.856_863del XP_024308151.1:p.Pro286ThrfsTer11
XM_024452384.1:c.856_863del XP_024308152.1:p.Pro286ThrfsTer11
NM_001110792.2:c.1171_1178del MANE Select NP_001104262.1:p.Pro391ThrfsTer11
NM_001316337.2:c.856_863del NP_001303266.1:p.Pro286ThrfsTer11
NM_001369391.2:c.856_863del NP_001356320.1:p.Pro286ThrfsTer11
NM_001369392.2:c.856_863del NP_001356321.1:p.Pro286ThrfsTer11
NM_001369393.2:c.856_863del NP_001356322.1:p.Pro286ThrfsTer11
NM_001369394.1:c.856_863del NP_001356323.1:p.Pro286ThrfsTer11
NM_001369394.2:c.856_863del NP_001356323.1:p.Pro286ThrfsTer11
NM_001386137.1:c.466_473del NP_001373066.1:p.Pro156ThrfsTer11
NM_001386138.1:c.466_473del NP_001373067.1:p.Pro156ThrfsTer11
NM_001386139.1:c.466_473del NP_001373068.1:p.Pro156ThrfsTer11
NM_004992.4:c.1135_1142del MANE Plus Clinical NP_004983.1:p.Pro379ThrfsTer11
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