Canonical Allele Identifier: CA645228294
Gene: MECP2 HGNC NCBI

Linked Data

dbSNP Id: rs1557150907
MyVariant Identifiers: chrX:g.153363122del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097668del , CM000685.2:g.154097668del GRCh38
NC_000023.10:g.153363125del , CM000685.1:g.153363125del GRCh37
NC_000023.9:g.153016319del NCBI36
NG_007107.2:g.44457del
NG_007107.3:g.44439del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.-160del MANE Plus Clinical ENSP00000301948.6:n.-160del
ENST00000453960.7:c.1del MANE Select ENSP00000395535.2:p.Met1TrpfsTer?
ENST00000303391.10:c.-160del ENSP00000301948.6:n.-160del
ENST00000407218.5:c.1del ENSP00000384865.2:p.Met1TrpfsTer?
ENST00000453960.6:c.1del ENSP00000395535.2:p.Met1TrpfsTer?
ENST00000619732.4:c.-160del ENSP00000480973.1:n.-160del
ENST00000627864.1:n.16del
ENST00000628176.2:c.-160del ENSP00000486978.1:n.-160del
ENST00000631210.1:n.305+7116del
NM_001110792.1:c.1del NP_001104262.1:p.Met1TrpfsTer?
NM_001316337.1:c.-607del NP_001303266.1:n.-607del
NM_004992.3:c.-160del NP_004983.1:n.-160del
XM_005274682.3:c.-551del XP_005274739.1:n.-551del
NM_001110792.2:c.1del MANE Select NP_001104262.1:p.Met1TrpfsTer?
NM_001316337.2:c.-607del NP_001303266.1:n.-607del
NM_001369391.2:c.-902del NP_001356320.1:n.-902del
NM_001369392.2:c.-551del NP_001356321.1:n.-551del
NM_001369393.2:c.-427del NP_001356322.1:n.-427del
NM_001386137.1:c.-832del NP_001373066.1:n.-832del
NM_001386138.1:c.-720del NP_001373067.1:n.-720del
NM_001386139.1:c.-596del NP_001373068.1:n.-596del
NM_004992.4:c.-160del MANE Plus Clinical NP_004983.1:n.-160del