Canonical Allele Identifier: CA274553

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189643
• ClinVar RCV Id: RCV000170126
• dbSNP Id: rs1557135225
• MyVariant Identifiers: chrX:g.153296060_153296222del (hg19) ; chrX:g.154030609_154030771del (hg38)
• PubMed: PMID:12180070 ; PMID:15173251

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030610_154030772del , CM000685.2:g.154030610_154030772del	GRCh38
NC_000023.10:g.153296061_153296223del , CM000685.1:g.153296061_153296223del	GRCh37
NC_000023.9:g.152949255_152949417del	NCBI36
NG_007107.2:g.111357_111519del
NG_007107.3:g.111333_111495del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1057_1219del MANE Plus Clinical	ENSP00000301948.6:p.Gly353ThrfsTer2
ENST00000453960.7:c.1093_1255del MANE Select	ENSP00000395535.2:p.Gly365ThrfsTer2
ENST00000303391.10:c.1057_1219del	ENSP00000301948.6:p.Gly353ThrfsTer2
ENST00000407218.5:c.*429_*591del	ENSP00000384865.2:n.*429_*591del
ENST00000453960.6:c.1093_1255del	ENSP00000395535.2:p.Gly365ThrfsTer2
ENST00000619732.4:c.1057_1219del	ENSP00000480973.1:p.Gly353ThrfsTer2
ENST00000628176.2:c.*429_*591del	ENSP00000486978.1:n.*429_*591del
NM_001110792.1:c.1093_1255del	NP_001104262.1:p.Gly365ThrfsTer2
NM_001316337.1:c.778_940del	NP_001303266.1:p.Gly260ThrfsTer2
NM_004992.3:c.1057_1219del	NP_004983.1:p.Gly353ThrfsTer2
XM_005274681.3:c.1057_1219del	XP_005274738.1:p.Gly353ThrfsTer2
XM_005274682.3:c.778_940del	XP_005274739.1:p.Gly260ThrfsTer2
XM_005274683.3:c.778_940del	XP_005274740.1:p.Gly260ThrfsTer2
XM_006724819.2:c.388_550del	XP_006724882.1:p.Gly130ThrfsTer2
XM_011531166.1:c.778_940del	XP_011529468.1:p.Gly260ThrfsTer2
XM_006724819.3:c.388_550del	XP_006724882.1:p.Gly130ThrfsTer2
XM_011531166.2:c.778_940del	XP_011529468.1:p.Gly260ThrfsTer2
XM_024452383.1:c.778_940del	XP_024308151.1:p.Gly260ThrfsTer2
XM_024452384.1:c.778_940del	XP_024308152.1:p.Gly260ThrfsTer2
NM_001110792.2:c.1093_1255del MANE Select	NP_001104262.1:p.Gly365ThrfsTer2
NM_001316337.2:c.778_940del	NP_001303266.1:p.Gly260ThrfsTer2
NM_001369391.2:c.778_940del	NP_001356320.1:p.Gly260ThrfsTer2
NM_001369392.2:c.778_940del	NP_001356321.1:p.Gly260ThrfsTer2
NM_001369393.2:c.778_940del	NP_001356322.1:p.Gly260ThrfsTer2
NM_001369394.1:c.778_940del	NP_001356323.1:p.Gly260ThrfsTer2
NM_001369394.2:c.778_940del	NP_001356323.1:p.Gly260ThrfsTer2
NM_001386137.1:c.388_550del	NP_001373066.1:p.Gly130ThrfsTer2
NM_001386138.1:c.388_550del	NP_001373067.1:p.Gly130ThrfsTer2
NM_001386139.1:c.388_550del	NP_001373068.1:p.Gly130ThrfsTer2
NM_004992.4:c.1057_1219del MANE Plus Clinical	NP_004983.1:p.Gly353ThrfsTer2