Canonical Allele Identifier: CA891844088

Gene: MECP2

Linked Data

• ClinVar Variation Id: 584453
• ClinVar RCV Id: RCV000708591
• dbSNP Id: rs1569548274
• MyVariant Identifiers: chrX:g.153296004_153296578del (hg19) ; chrX:g.154030554_154031128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030554_154031128del , CM000685.2:g.154030554_154031128del	GRCh38
NC_000023.10:g.153296005_153296579del , CM000685.1:g.153296005_153296579del	GRCh37
NC_000023.9:g.152949199_152949773del	NCBI36
NG_007107.2:g.111001_111575del
NG_007107.3:g.110977_111551del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.701_1275del MANE Plus Clinical	ENSP00000301948.6:p.Ala234GlufsTer10
ENST00000453960.7:c.737_1311del MANE Select	ENSP00000395535.2:p.Ala246GlufsTer10
ENST00000303391.10:c.701_1275del	ENSP00000301948.6:p.Ala234GlufsTer10
ENST00000453960.6:c.737_1311del	ENSP00000395535.2:p.Ala246GlufsTer10
ENST00000619732.4:c.701_1275del	ENSP00000480973.1:p.Ala234GlufsTer10
ENST00000628176.2:c.*73_*647del	ENSP00000486978.1:n.*73_*647del
NM_001110792.1:c.737_1311del	NP_001104262.1:p.Ala246GlufsTer10
NM_001316337.1:c.422_996del	NP_001303266.1:p.Ala141GlufsTer10
NM_004992.3:c.701_1275del	NP_004983.1:p.Ala234GlufsTer10
XM_005274681.3:c.701_1275del	XP_005274738.1:p.Ala234GlufsTer10
XM_005274682.3:c.422_996del	XP_005274739.1:p.Ala141GlufsTer10
XM_005274683.3:c.422_996del	XP_005274740.1:p.Ala141GlufsTer10
XM_006724819.2:c.32_606del	XP_006724882.1:p.Ala11GlufsTer10
XM_011531166.1:c.422_996del	XP_011529468.1:p.Ala141GlufsTer10
XM_006724819.3:c.32_606del	XP_006724882.1:p.Ala11GlufsTer10
XM_011531166.2:c.422_996del	XP_011529468.1:p.Ala141GlufsTer10
XM_024452383.1:c.422_996del	XP_024308151.1:p.Ala141GlufsTer10
XM_024452384.1:c.422_996del	XP_024308152.1:p.Ala141GlufsTer10
NM_001110792.2:c.737_1311del MANE Select	NP_001104262.1:p.Ala246GlufsTer10
NM_001316337.2:c.422_996del	NP_001303266.1:p.Ala141GlufsTer10
NM_001369391.2:c.422_996del	NP_001356320.1:p.Ala141GlufsTer10
NM_001369392.2:c.422_996del	NP_001356321.1:p.Ala141GlufsTer10
NM_001369393.2:c.422_996del	NP_001356322.1:p.Ala141GlufsTer10
NM_001369394.1:c.422_996del	NP_001356323.1:p.Ala141GlufsTer10
NM_001369394.2:c.422_996del	NP_001356323.1:p.Ala141GlufsTer10
NM_001386137.1:c.32_606del	NP_001373066.1:p.Ala11GlufsTer10
NM_001386138.1:c.32_606del	NP_001373067.1:p.Ala11GlufsTer10
NM_001386139.1:c.32_606del	NP_001373068.1:p.Ala11GlufsTer10
NM_004992.4:c.701_1275del MANE Plus Clinical	NP_004983.1:p.Ala234GlufsTer10