Canonical Allele Identifier: CA274559

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189650
• ClinVar RCV Id: RCV000170133
• dbSNP Id: rs1557135213
• MyVariant Identifiers: chrX:g.153296054_153296174del (hg19) ; chrX:g.154030603_154030723del (hg38)
• PubMed: PMID:16473305

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030603_154030723del , CM000685.2:g.154030603_154030723del	GRCh38
NC_000023.10:g.153296054_153296174del , CM000685.1:g.153296054_153296174del	GRCh37
NC_000023.9:g.152949248_152949368del	NCBI36
NG_007107.2:g.111405_111525del
NG_007107.3:g.111381_111501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1105_1225del MANE Plus Clinical	ENSP00000301948.6:p.His369AlafsTer?
ENST00000453960.7:c.1141_1261del MANE Select	ENSP00000395535.2:p.His381AlafsTer?
ENST00000303391.10:c.1105_1225del	ENSP00000301948.6:p.His369AlafsTer?
ENST00000453960.6:c.1141_1261del	ENSP00000395535.2:p.His381AlafsTer?
ENST00000619732.4:c.1105_1225del	ENSP00000480973.1:p.His369AlafsTer?
ENST00000628176.2:c.*477_*597del	ENSP00000486978.1:n.*477_*597del
NM_001110792.1:c.1141_1261del	NP_001104262.1:p.His381AlafsTer?
NM_001316337.1:c.826_946del	NP_001303266.1:p.His276AlafsTer?
NM_004992.3:c.1105_1225del	NP_004983.1:p.His369AlafsTer?
XM_005274681.3:c.1105_1225del	XP_005274738.1:p.His369AlafsTer?
XM_005274682.3:c.826_946del	XP_005274739.1:p.His276AlafsTer?
XM_005274683.3:c.826_946del	XP_005274740.1:p.His276AlafsTer?
XM_006724819.2:c.436_556del	XP_006724882.1:p.His146AlafsTer?
XM_011531166.1:c.826_946del	XP_011529468.1:p.His276AlafsTer?
XM_006724819.3:c.436_556del	XP_006724882.1:p.His146AlafsTer?
XM_011531166.2:c.826_946del	XP_011529468.1:p.His276AlafsTer?
XM_024452383.1:c.826_946del	XP_024308151.1:p.His276AlafsTer?
XM_024452384.1:c.826_946del	XP_024308152.1:p.His276AlafsTer?
NM_001110792.2:c.1141_1261del MANE Select	NP_001104262.1:p.His381AlafsTer?
NM_001316337.2:c.826_946del	NP_001303266.1:p.His276AlafsTer?
NM_001369391.2:c.826_946del	NP_001356320.1:p.His276AlafsTer?
NM_001369392.2:c.826_946del	NP_001356321.1:p.His276AlafsTer?
NM_001369393.2:c.826_946del	NP_001356322.1:p.His276AlafsTer?
NM_001369394.1:c.826_946del	NP_001356323.1:p.His276AlafsTer?
NM_001369394.2:c.826_946del	NP_001356323.1:p.His276AlafsTer?
NM_001386137.1:c.436_556del	NP_001373066.1:p.His146AlafsTer?
NM_001386138.1:c.436_556del	NP_001373067.1:p.His146AlafsTer?
NM_001386139.1:c.436_556del	NP_001373068.1:p.His146AlafsTer?
NM_004992.4:c.1105_1225del MANE Plus Clinical	NP_004983.1:p.His369AlafsTer?