Canonical Allele Identifier: CA273848

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143485
• ClinVar RCV Id: RCV000168709 ; RCV001042819
• dbSNP Id: rs267608640
• MyVariant Identifiers: chrX:g.153295822_153295825del (hg19) ; chrX:g.154030371_154030374del (hg38)
• PubMed: PMID:11402105 ; PMID:16473305
• ERepo: CA273848/MONDO:0010726/016

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030373_154030376del , CM000685.2:g.154030373_154030376del	GRCh38
NC_000023.10:g.153295824_153295827del , CM000685.1:g.153295824_153295827del	GRCh37
NC_000023.9:g.152949018_152949021del	NCBI36
NG_007107.2:g.111754_111757del
NG_007107.3:g.111730_111733del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1454_1457del MANE Plus Clinical	ENSP00000301948.6:p.Val485AlafsTer26
ENST00000453960.7:c.1490_1493del MANE Select	ENSP00000395535.2:p.Val497AlafsTer26
ENST00000303391.10:c.1454_1457del	ENSP00000301948.6:p.Val485AlafsTer26
ENST00000453960.6:c.1490_1493del	ENSP00000395535.2:p.Val497AlafsTer26
ENST00000619732.4:c.1450_1453del
ENST00000628176.2:c.*826_*829del	ENSP00000486978.1:n.*826_*829del
NM_001110792.1:c.1490_1493del	NP_001104262.1:p.Val497AlafsTer26
NM_001316337.1:c.1175_1178del	NP_001303266.1:p.Val392AlafsTer26
NM_004992.3:c.1454_1457del	NP_004983.1:p.Val485AlafsTer26
XM_005274681.3:c.1454_1457del	XP_005274738.1:p.Val485AlafsTer26
XM_005274682.3:c.1175_1178del	XP_005274739.1:p.Val392AlafsTer26
XM_005274683.3:c.1175_1178del	XP_005274740.1:p.Val392AlafsTer26
XM_006724819.2:c.785_788del	XP_006724882.1:p.Val262AlafsTer26
XM_011531166.1:c.1175_1178del	XP_011529468.1:p.Val392AlafsTer26
XM_006724819.3:c.785_788del	XP_006724882.1:p.Val262AlafsTer26
XM_011531166.2:c.1175_1178del	XP_011529468.1:p.Val392AlafsTer26
XM_024452383.1:c.1175_1178del	XP_024308151.1:p.Val392AlafsTer26
XM_024452384.1:c.1175_1178del	XP_024308152.1:p.Val392AlafsTer26
NM_001110792.2:c.1490_1493del MANE Select	NP_001104262.1:p.Val497AlafsTer26
NM_001316337.2:c.1175_1178del	NP_001303266.1:p.Val392AlafsTer26
NM_001369391.2:c.1175_1178del	NP_001356320.1:p.Val392AlafsTer26
NM_001369392.2:c.1175_1178del	NP_001356321.1:p.Val392AlafsTer26
NM_001369393.2:c.1175_1178del	NP_001356322.1:p.Val392AlafsTer26
NM_001369394.1:c.1175_1178del	NP_001356323.1:p.Val392AlafsTer26
NM_001369394.2:c.1175_1178del	NP_001356323.1:p.Val392AlafsTer26
NM_001386137.1:c.785_788del	NP_001373066.1:p.Val262AlafsTer26
NM_001386138.1:c.785_788del	NP_001373067.1:p.Val262AlafsTer26
NM_001386139.1:c.785_788del	NP_001373068.1:p.Val262AlafsTer26
NM_004992.4:c.1454_1457del MANE Plus Clinical	NP_004983.1:p.Val485AlafsTer26