Canonical Allele Identifier: CA274557

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189647
• ClinVar RCV Id: RCV000170130
• dbSNP Id: rs1557135285
• MyVariant Identifiers: chrX:g.153296076_153296182del (hg19) ; chrX:g.154030625_154030731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030628_154030734del , CM000685.2:g.154030628_154030734del	GRCh38
NC_000023.10:g.153296079_153296185del , CM000685.1:g.153296079_153296185del	GRCh37
NC_000023.9:g.152949273_152949379del	NCBI36
NG_007107.2:g.111397_111503del
NG_007107.3:g.111373_111479del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1097_1203del MANE Plus Clinical	ENSP00000301948.6:p.His366ProfsTer3
ENST00000453960.7:c.1133_1239del MANE Select	ENSP00000395535.2:p.His378ProfsTer3
ENST00000303391.10:c.1097_1203del	ENSP00000301948.6:p.His366ProfsTer3
ENST00000407218.5:c.*469_*575del	ENSP00000384865.2:n.*469_*575del
ENST00000453960.6:c.1133_1239del	ENSP00000395535.2:p.His378ProfsTer3
ENST00000619732.4:c.1097_1203del	ENSP00000480973.1:p.His366ProfsTer3
ENST00000628176.2:c.*469_*575del	ENSP00000486978.1:n.*469_*575del
NM_001110792.1:c.1133_1239del	NP_001104262.1:p.His378ProfsTer3
NM_001316337.1:c.818_924del	NP_001303266.1:p.His273ProfsTer3
NM_004992.3:c.1097_1203del	NP_004983.1:p.His366ProfsTer3
XM_005274681.3:c.1097_1203del	XP_005274738.1:p.His366ProfsTer3
XM_005274682.3:c.818_924del	XP_005274739.1:p.His273ProfsTer3
XM_005274683.3:c.818_924del	XP_005274740.1:p.His273ProfsTer3
XM_006724819.2:c.428_534del	XP_006724882.1:p.His143ProfsTer3
XM_011531166.1:c.818_924del	XP_011529468.1:p.His273ProfsTer3
XM_006724819.3:c.428_534del	XP_006724882.1:p.His143ProfsTer3
XM_011531166.2:c.818_924del	XP_011529468.1:p.His273ProfsTer3
XM_024452383.1:c.818_924del	XP_024308151.1:p.His273ProfsTer3
XM_024452384.1:c.818_924del	XP_024308152.1:p.His273ProfsTer3
NM_001110792.2:c.1133_1239del MANE Select	NP_001104262.1:p.His378ProfsTer3
NM_001316337.2:c.818_924del	NP_001303266.1:p.His273ProfsTer3
NM_001369391.2:c.818_924del	NP_001356320.1:p.His273ProfsTer3
NM_001369392.2:c.818_924del	NP_001356321.1:p.His273ProfsTer3
NM_001369393.2:c.818_924del	NP_001356322.1:p.His273ProfsTer3
NM_001369394.1:c.818_924del	NP_001356323.1:p.His273ProfsTer3
NM_001369394.2:c.818_924del	NP_001356323.1:p.His273ProfsTer3
NM_001386137.1:c.428_534del	NP_001373066.1:p.His143ProfsTer3
NM_001386138.1:c.428_534del	NP_001373067.1:p.His143ProfsTer3
NM_001386139.1:c.428_534del	NP_001373068.1:p.His143ProfsTer3
NM_004992.4:c.1097_1203del MANE Plus Clinical	NP_004983.1:p.His366ProfsTer3