Canonical Allele Identifier: CA198819

Gene: MECP2

Linked Data

• ClinVar Variation Id: 158882
• ClinVar RCV Id: RCV000168678 ; RCV000548811 ; RCV002312644 ; RCV002472367 ; RCV001705949 ; RCV004532657
• dbSNP Id: rs587783744
• ExAC: X:153363075 G / GCCT
• gnomAD v2: X-153363075-G-GCCT
• gnomAD v3: X-154097618-G-GCCT
• gnomAD v4: X-154097618-G-GCCT
• MyVariant Identifiers: chrX:g.153363076_153363078dup (hg19) ; chrX:g.153363076_153363078dupCCT (hg19) ; chrX:g.153363078_153363079insCCT (hg19) ; chrX:g.153363075_153363076insCCT (hg19) ; chrX:g.154097619_154097621dupCCT (hg38) ; chrX:g.154097621_154097622insCCT (hg38) ; chrX:g.154097618_154097619insCCT (hg38)
• PubMed: PMID:17171659 ; PMID:21954873

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097633_154097635dup , CM000685.2:g.154097633_154097635dup	GRCh38
NC_000023.10:g.153363090_153363092dup , CM000685.1:g.153363090_153363092dup	GRCh37
NC_000023.9:g.153016284_153016286dup	NCBI36
NG_007107.2:g.44501_44503dup
NG_007107.3:g.44483_44485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-116_-114dup MANE Plus Clinical	ENSP00000301948.6:n.-116_-114dup
ENST00000453960.7:c.45_47dup MANE Select	ENSP00000395535.2:p.Gly16_Glu17insGly
ENST00000303391.10:c.-116_-114dup	ENSP00000301948.6:n.-116_-114dup
ENST00000369957.5:c.-116_-114dup	ENSP00000358973.4:n.-116_-114dup
ENST00000407218.5:c.45_47dup	ENSP00000384865.2:p.Gly16_Glu17insGly
ENST00000453960.6:c.45_47dup	ENSP00000395535.2:p.Gly16_Glu17insGly
ENST00000619732.4:c.-116_-114dup	ENSP00000480973.1:n.-116_-114dup
ENST00000627864.1:n.60_62dup
ENST00000628176.2:c.-116_-114dup	ENSP00000486978.1:n.-116_-114dup
ENST00000631210.1:n.305+7160_305+7162dup
NM_001110792.1:c.45_47dup	NP_001104262.1:p.Gly16_Glu17insGly
NM_001316337.1:c.-563_-561dup	NP_001303266.1:n.-563_-561dup
NM_004992.3:c.-116_-114dup	NP_004983.1:n.-116_-114dup
XM_005274682.3:c.-507_-505dup	XP_005274739.1:n.-507_-505dup
NM_001110792.2:c.45_47dup MANE Select	NP_001104262.1:p.Gly16_Glu17insGly
NM_001316337.2:c.-563_-561dup	NP_001303266.1:n.-563_-561dup
NM_001369391.2:c.-858_-856dup	NP_001356320.1:n.-858_-856dup
NM_001369392.2:c.-507_-505dup	NP_001356321.1:n.-507_-505dup
NM_001369393.2:c.-383_-381dup	NP_001356322.1:n.-383_-381dup
NM_001386137.1:c.-788_-786dup	NP_001373066.1:n.-788_-786dup
NM_001386138.1:c.-676_-674dup	NP_001373067.1:n.-676_-674dup
NM_001386139.1:c.-552_-550dup	NP_001373068.1:n.-552_-550dup
NM_004992.4:c.-116_-114dup MANE Plus Clinical	NP_004983.1:n.-116_-114dup