Canonical Allele Identifier: CA645228290

Gene: MECP2

Linked Data

• gnomAD v2: X-153363073-TCG-T
• gnomAD v4: X-154097616-TCG-T
• MyVariant Identifiers: chrX:g.153363074_153363075del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097618_154097619del , CM000685.2:g.154097618_154097619del	GRCh38
NC_000023.10:g.153363075_153363076del , CM000685.1:g.153363075_153363076del	GRCh37
NC_000023.9:g.153016269_153016270del	NCBI36
NG_007107.2:g.44504_44505del
NG_007107.3:g.44486_44487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.8_9del
ENST00000303391.11:c.-113_-112del MANE Plus Clinical	ENSP00000301948.6:n.-113_-112del
ENST00000453960.7:c.48_49del MANE Select	ENSP00000395535.2:p.Glu17GlyfsTer24
ENST00000676382.1:n.8_9del
ENST00000303391.10:c.-113_-112del	ENSP00000301948.6:n.-113_-112del
ENST00000369957.5:c.-113_-112del	ENSP00000358973.4:n.-113_-112del
ENST00000407218.5:c.48_49del	ENSP00000384865.2:p.Glu17GlyfsTer24
ENST00000453960.6:c.48_49del	ENSP00000395535.2:p.Glu17GlyfsTer24
ENST00000619732.4:c.-113_-112del	ENSP00000480973.1:n.-113_-112del
ENST00000627864.1:n.63_64del
ENST00000628176.2:c.-113_-112del	ENSP00000486978.1:n.-113_-112del
ENST00000631210.1:n.305+7163_305+7164del
NM_001110792.1:c.48_49del	NP_001104262.1:p.Glu17GlyfsTer24
NM_001316337.1:c.-560_-559del	NP_001303266.1:n.-560_-559del
NM_004992.3:c.-113_-112del	NP_004983.1:n.-113_-112del
XM_005274682.3:c.-504_-503del	XP_005274739.1:n.-504_-503del
NM_001110792.2:c.48_49del MANE Select	NP_001104262.1:p.Glu17GlyfsTer24
NM_001316337.2:c.-560_-559del	NP_001303266.1:n.-560_-559del
NM_001369391.2:c.-855_-854del	NP_001356320.1:n.-855_-854del
NM_001369392.2:c.-504_-503del	NP_001356321.1:n.-504_-503del
NM_001369393.2:c.-380_-379del	NP_001356322.1:n.-380_-379del
NM_001386137.1:c.-785_-784del	NP_001373066.1:n.-785_-784del
NM_001386138.1:c.-673_-672del	NP_001373067.1:n.-673_-672del
NM_001386139.1:c.-549_-548del	NP_001373068.1:n.-549_-548del
NM_004992.4:c.-113_-112del MANE Plus Clinical	NP_004983.1:n.-113_-112del