Canonical Allele Identifier: CA270308

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143511
• ClinVar RCV Id: RCV000133042
• dbSNP Id: rs267608444
• MyVariant Identifiers: chrX:g.153297776_153297777del (hg19) ; chrX:g.154032325_154032326del (hg38)
• PubMed: PMID:10814718

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032325_154032326del , CM000685.2:g.154032325_154032326del	GRCh38
NC_000023.10:g.153297776_153297777del , CM000685.1:g.153297776_153297777del	GRCh37
NC_000023.9:g.152950970_152950971del	NCBI36
NG_007107.2:g.109802_109803del
NG_007107.3:g.109778_109779del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.258_259del MANE Plus Clinical	ENSP00000301948.6:p.Ile87HisfsTer3
ENST00000453960.7:c.294_295del MANE Select	ENSP00000395535.2:p.Ile99HisfsTer3
ENST00000303391.10:c.258_259del	ENSP00000301948.6:p.Ile87HisfsTer3
ENST00000369957.5:c.*312_*313del	ENSP00000358973.4:n.*312_*313del
ENST00000407218.5:c.294_295del	ENSP00000384865.2:p.Ile99HisfsTer3
ENST00000453960.6:c.294_295del	ENSP00000395535.2:p.Ile99HisfsTer3
ENST00000486506.5:n.2606_2607del
ENST00000611468.1:c.246_247del	ENSP00000479736.1:p.Ile83HisfsTer3
ENST00000619732.4:c.258_259del	ENSP00000480973.1:p.Ile87HisfsTer3
ENST00000622433.4:c.246_247del	ENSP00000484470.1:p.Ile83HisfsTer3
ENST00000628176.2:c.258_259del	ENSP00000486978.1:p.Ile87HisfsTer3
NM_001110792.1:c.294_295del	NP_001104262.1:p.Ile99HisfsTer3
NM_001316337.1:c.-22_-21del	NP_001303266.1:n.-22_-21del
NM_004992.3:c.258_259del	NP_004983.1:p.Ile87HisfsTer3
XM_005274681.3:c.258_259del	XP_005274738.1:p.Ile87HisfsTer3
XM_005274682.3:c.-22_-21del	XP_005274739.1:n.-22_-21del
XM_005274683.3:c.-22_-21del	XP_005274740.1:n.-22_-21del
XM_011531166.1:c.-22_-21del	XP_011529468.1:n.-22_-21del
XM_006724819.3:c.-303_-302del	XP_006724882.1:n.-303_-302del
XM_011531166.2:c.-22_-21del	XP_011529468.1:n.-22_-21del
XM_024452383.1:c.-22_-21del	XP_024308151.1:n.-22_-21del
XM_024452384.1:c.-22_-21del	XP_024308152.1:n.-22_-21del
NM_001110792.2:c.294_295del MANE Select	NP_001104262.1:p.Ile99HisfsTer3
NM_001316337.2:c.-22_-21del	NP_001303266.1:n.-22_-21del
NM_001369391.2:c.-22_-21del	NP_001356320.1:n.-22_-21del
NM_001369392.2:c.-22_-21del	NP_001356321.1:n.-22_-21del
NM_001369393.2:c.-22_-21del	NP_001356322.1:n.-22_-21del
NM_001369394.1:c.-22_-21del	NP_001356323.1:n.-22_-21del
NM_001369394.2:c.-22_-21del	NP_001356323.1:n.-22_-21del
NM_001386137.1:c.-303_-302del	NP_001373066.1:n.-303_-302del
NM_001386138.1:c.-303_-302del	NP_001373067.1:n.-303_-302del
NM_001386139.1:c.-303_-302del	NP_001373068.1:n.-303_-302del
NM_004992.4:c.258_259del MANE Plus Clinical	NP_004983.1:p.Ile87HisfsTer3