Canonical Allele Identifier: CA10603710

Gene: MECP2

Linked Data

• ClinVar Variation Id: 280541
• ClinVar RCV Id: RCV000284365 ; RCV001207928 ; RCV002274968 ; RCV002470836 ; RCV002429211
• dbSNP Id: rs587783092
• gnomAD v4: X-154030741-T-TG
• MyVariant Identifiers: chrX:g.153296193dupG (hg19) ; chrX:g.153296192_153296193insG (hg19) ; chrX:g.154030742dupG (hg38) ; chrX:g.154030741_154030742insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030747dup , CM000685.2:g.154030747dup	GRCh38
NC_000023.10:g.153296198dup , CM000685.1:g.153296198dup	GRCh37
NC_000023.9:g.152949392dup	NCBI36
NG_007107.2:g.111386dup
NG_007107.3:g.111362dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1086dup MANE Plus Clinical	ENSP00000301948.6:p.Lys363GlnfsTer30
ENST00000453960.7:c.1122dup MANE Select	ENSP00000395535.2:p.Lys375GlnfsTer30
ENST00000303391.10:c.1086dup	ENSP00000301948.6:p.Lys363GlnfsTer30
ENST00000407218.5:c.*458dup	ENSP00000384865.2:n.*458dup
ENST00000453960.6:c.1122dup	ENSP00000395535.2:p.Lys375GlnfsTer30
ENST00000619732.4:c.1086dup	ENSP00000480973.1:p.Lys363GlnfsTer30
ENST00000628176.2:c.*458dup	ENSP00000486978.1:n.*458dup
NM_001110792.1:c.1122dup	NP_001104262.1:p.Lys375GlnfsTer30
NM_001316337.1:c.807dup	NP_001303266.1:p.Lys270GlnfsTer30
NM_004992.3:c.1086dup	NP_004983.1:p.Lys363GlnfsTer30
XM_005274681.3:c.1086dup	XP_005274738.1:p.Lys363GlnfsTer30
XM_005274682.3:c.807dup	XP_005274739.1:p.Lys270GlnfsTer30
XM_005274683.3:c.807dup	XP_005274740.1:p.Lys270GlnfsTer30
XM_006724819.2:c.417dup	XP_006724882.1:p.Lys140GlnfsTer30
XM_011531166.1:c.807dup	XP_011529468.1:p.Lys270GlnfsTer30
XM_006724819.3:c.417dup	XP_006724882.1:p.Lys140GlnfsTer30
XM_011531166.2:c.807dup	XP_011529468.1:p.Lys270GlnfsTer30
XM_024452383.1:c.807dup	XP_024308151.1:p.Lys270GlnfsTer30
XM_024452384.1:c.807dup	XP_024308152.1:p.Lys270GlnfsTer30
NM_001110792.2:c.1122dup MANE Select	NP_001104262.1:p.Lys375GlnfsTer30
NM_001316337.2:c.807dup	NP_001303266.1:p.Lys270GlnfsTer30
NM_001369391.2:c.807dup	NP_001356320.1:p.Lys270GlnfsTer30
NM_001369392.2:c.807dup	NP_001356321.1:p.Lys270GlnfsTer30
NM_001369393.2:c.807dup	NP_001356322.1:p.Lys270GlnfsTer30
NM_001369394.1:c.807dup	NP_001356323.1:p.Lys270GlnfsTer30
NM_001369394.2:c.807dup	NP_001356323.1:p.Lys270GlnfsTer30
NM_001386137.1:c.417dup	NP_001373066.1:p.Lys140GlnfsTer30
NM_001386138.1:c.417dup	NP_001373067.1:p.Lys140GlnfsTer30
NM_001386139.1:c.417dup	NP_001373068.1:p.Lys140GlnfsTer30
NM_004992.4:c.1086dup MANE Plus Clinical	NP_004983.1:p.Lys363GlnfsTer30