Canonical Allele Identifier: CA270507

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143666
• ClinVar RCV Id: RCV000133208 ; RCV002515932 ; RCV003156073
• dbSNP Id: rs61749743
• MyVariant Identifiers: chrX:g.153296569dupC (hg19) ; chrX:g.153296568_153296569insC (hg19) ; chrX:g.154031118dupC (hg38) ; chrX:g.154031117_154031118insC (hg38)
• PubMed: PMID:1402105 ; PMID:11402105 ; PMID:11462237 ; PMID:17986102 ; PMID:23262346

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031123dup , CM000685.2:g.154031123dup	GRCh38
NC_000023.10:g.153296574dup , CM000685.1:g.153296574dup	GRCh37
NC_000023.9:g.152949768dup	NCBI36
NG_007107.2:g.111010dup
NG_007107.3:g.110986dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.710dup MANE Plus Clinical	ENSP00000301948.6:p.Gly238TrpfsTer21
ENST00000453960.7:c.746dup MANE Select	ENSP00000395535.2:p.Gly250TrpfsTer21
ENST00000637917.1:c.66-182dup
ENST00000303391.10:c.710dup	ENSP00000301948.6:p.Gly238TrpfsTer21
ENST00000407218.5:c.*82dup	ENSP00000384865.2:n.*82dup
ENST00000453960.6:c.746dup	ENSP00000395535.2:p.Gly250TrpfsTer21
ENST00000619732.4:c.710dup	ENSP00000480973.1:p.Gly238TrpfsTer21
ENST00000622433.4:c.698dup	ENSP00000484470.1:p.Gly234TrpfsTer21
ENST00000628176.2:c.*82dup	ENSP00000486978.1:n.*82dup
NM_001110792.1:c.746dup	NP_001104262.1:p.Gly250TrpfsTer21
NM_001316337.1:c.431dup	NP_001303266.1:p.Gly145TrpfsTer21
NM_004992.3:c.710dup	NP_004983.1:p.Gly238TrpfsTer21
XM_005274681.3:c.710dup	XP_005274738.1:p.Gly238TrpfsTer21
XM_005274682.3:c.431dup	XP_005274739.1:p.Gly145TrpfsTer21
XM_005274683.3:c.431dup	XP_005274740.1:p.Gly145TrpfsTer21
XM_006724819.2:c.41dup	XP_006724882.1:p.Gly15TrpfsTer21
XM_011531166.1:c.431dup	XP_011529468.1:p.Gly145TrpfsTer21
XM_006724819.3:c.41dup	XP_006724882.1:p.Gly15TrpfsTer21
XM_011531166.2:c.431dup	XP_011529468.1:p.Gly145TrpfsTer21
XM_024452383.1:c.431dup	XP_024308151.1:p.Gly145TrpfsTer21
XM_024452384.1:c.431dup	XP_024308152.1:p.Gly145TrpfsTer21
NM_001110792.2:c.746dup MANE Select	NP_001104262.1:p.Gly250TrpfsTer21
NM_001316337.2:c.431dup	NP_001303266.1:p.Gly145TrpfsTer21
NM_001369391.2:c.431dup	NP_001356320.1:p.Gly145TrpfsTer21
NM_001369392.2:c.431dup	NP_001356321.1:p.Gly145TrpfsTer21
NM_001369393.2:c.431dup	NP_001356322.1:p.Gly145TrpfsTer21
NM_001369394.1:c.431dup	NP_001356323.1:p.Gly145TrpfsTer21
NM_001369394.2:c.431dup	NP_001356323.1:p.Gly145TrpfsTer21
NM_001386137.1:c.41dup	NP_001373066.1:p.Gly15TrpfsTer21
NM_001386138.1:c.41dup	NP_001373067.1:p.Gly15TrpfsTer21
NM_001386139.1:c.41dup	NP_001373068.1:p.Gly15TrpfsTer21
NM_004992.4:c.710dup MANE Plus Clinical	NP_004983.1:p.Gly238TrpfsTer21