Canonical Allele Identifier: CA270241
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143388
ClinVar RCV Id: RCV000132913 RCV000486453
dbSNP Id: rs267608592
MyVariant Identifiers: chrX:g.153296079_153296119del (hg19) chrX:g.154030628_154030668del (hg38)
PubMed: PMID:10854091
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030629_154030669del , CM000685.2:g.154030629_154030669del GRCh38
NC_000023.10:g.153296080_153296120del , CM000685.1:g.153296080_153296120del GRCh37
NC_000023.9:g.152949274_152949314del NCBI36
NG_007107.2:g.111460_111500del
NG_007107.3:g.111436_111476del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.1160_1200del MANE Plus Clinical ENSP00000301948.6:p.Pro387GlnfsTer4
ENST00000453960.7:c.1196_1236del MANE Select ENSP00000395535.2:p.Pro399GlnfsTer4
ENST00000303391.10:c.1160_1200del ENSP00000301948.6:p.Pro387GlnfsTer4
ENST00000407218.5:c.*532_*572del ENSP00000384865.2:n.*532_*572del
ENST00000453960.6:c.1196_1236del ENSP00000395535.2:p.Pro399GlnfsTer4
ENST00000619732.4:c.1160_1200del ENSP00000480973.1:p.Pro387GlnfsTer4
ENST00000628176.2:c.*532_*572del ENSP00000486978.1:n.*532_*572del
NM_001110792.1:c.1196_1236del NP_001104262.1:p.Pro399GlnfsTer4
NM_001316337.1:c.881_921del NP_001303266.1:p.Pro294GlnfsTer4
NM_004992.3:c.1160_1200del NP_004983.1:p.Pro387GlnfsTer4
XM_005274681.3:c.1160_1200del XP_005274738.1:p.Pro387GlnfsTer4
XM_005274682.3:c.881_921del XP_005274739.1:p.Pro294GlnfsTer4
XM_005274683.3:c.881_921del XP_005274740.1:p.Pro294GlnfsTer4
XM_006724819.2:c.491_531del XP_006724882.1:p.Pro164GlnfsTer4
XM_011531166.1:c.881_921del XP_011529468.1:p.Pro294GlnfsTer4
XM_006724819.3:c.491_531del XP_006724882.1:p.Pro164GlnfsTer4
XM_011531166.2:c.881_921del XP_011529468.1:p.Pro294GlnfsTer4
XM_024452383.1:c.881_921del XP_024308151.1:p.Pro294GlnfsTer4
XM_024452384.1:c.881_921del XP_024308152.1:p.Pro294GlnfsTer4
NM_001110792.2:c.1196_1236del MANE Select NP_001104262.1:p.Pro399GlnfsTer4
NM_001316337.2:c.881_921del NP_001303266.1:p.Pro294GlnfsTer4
NM_001369391.2:c.881_921del NP_001356320.1:p.Pro294GlnfsTer4
NM_001369392.2:c.881_921del NP_001356321.1:p.Pro294GlnfsTer4
NM_001369393.2:c.881_921del NP_001356322.1:p.Pro294GlnfsTer4
NM_001369394.1:c.881_921del NP_001356323.1:p.Pro294GlnfsTer4
NM_001369394.2:c.881_921del NP_001356323.1:p.Pro294GlnfsTer4
NM_001386137.1:c.491_531del NP_001373066.1:p.Pro164GlnfsTer4
NM_001386138.1:c.491_531del NP_001373067.1:p.Pro164GlnfsTer4
NM_001386139.1:c.491_531del NP_001373068.1:p.Pro164GlnfsTer4
NM_004992.4:c.1160_1200del MANE Plus Clinical NP_004983.1:p.Pro387GlnfsTer4
Search 100 bp 5'
Search 100 bp 3'