Canonical Allele Identifier: CA645228276

Gene: MECP2

Linked Data

• dbSNP Id: rs1166285391
• gnomAD v2: X-153362909-C-CCGG
• gnomAD v3: X-154097452-C-CCGG
• gnomAD v4: X-154097452-C-CCGG
• MyVariant Identifiers: chrX:g.153362912_153362913insCGG (hg19) ; chrX:g.154097455_154097456insCGG (hg38) ; chrX:g.154097452_154097453insCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097462_154097464dup , CM000685.2:g.154097462_154097464dup	GRCh38
NC_000023.10:g.153362919_153362921dup , CM000685.1:g.153362919_153362921dup	GRCh37
NC_000023.9:g.153016113_153016115dup	NCBI36
NG_007107.2:g.44667_44669dup
NG_007107.3:g.44649_44651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.22+149_22+151dup
ENST00000303391.11:c.-99+149_-99+151dup MANE Plus Clinical	ENSP00000301948.6:n.-99+149_-99+151dup
ENST00000453960.7:c.62+149_62+151dup MANE Select	ENSP00000395535.2:n.62+149_62+151dup
ENST00000676382.1:n.22+149_22+151dup
ENST00000303391.10:c.-99+149_-99+151dup	ENSP00000301948.6:n.-99+149_-99+151dup
ENST00000369957.5:c.-99+149_-99+151dup	ENSP00000358973.4:n.-99+149_-99+151dup
ENST00000407218.5:c.62+149_62+151dup	ENSP00000384865.2:n.62+149_62+151dup
ENST00000453960.6:c.62+149_62+151dup	ENSP00000395535.2:n.62+149_62+151dup
ENST00000619732.4:c.-99+149_-99+151dup	ENSP00000480973.1:n.-99+149_-99+151dup
ENST00000627864.1:n.77+149_77+151dup
ENST00000628176.2:c.-99+149_-99+151dup	ENSP00000486978.1:n.-99+149_-99+151dup
ENST00000629277.1:n.69_71dup
ENST00000631210.1:n.305+7326_305+7328dup
NM_001110792.1:c.62+149_62+151dup	NP_001104262.1:n.62+149_62+151dup
NM_001316337.1:c.-546+149_-546+151dup	NP_001303266.1:n.-546+149_-546+151dup
NM_004992.3:c.-99+149_-99+151dup	NP_004983.1:n.-99+149_-99+151dup
XM_005274682.3:c.-490+149_-490+151dup	XP_005274739.1:n.-490+149_-490+151dup
NM_001110792.2:c.62+149_62+151dup MANE Select	NP_001104262.1:n.62+149_62+151dup
NM_001316337.2:c.-546+149_-546+151dup	NP_001303266.1:n.-546+149_-546+151dup
NM_001369391.2:c.-841+149_-841+151dup	NP_001356320.1:n.-841+149_-841+151dup
NM_001369392.2:c.-490+149_-490+151dup	NP_001356321.1:n.-490+149_-490+151dup
NM_001369393.2:c.-366+149_-366+151dup	NP_001356322.1:n.-366+149_-366+151dup
NM_001386137.1:c.-771+149_-771+151dup	NP_001373066.1:n.-771+149_-771+151dup
NM_001386138.1:c.-659+149_-659+151dup	NP_001373067.1:n.-659+149_-659+151dup
NM_001386139.1:c.-535+149_-535+151dup	NP_001373068.1:n.-535+149_-535+151dup
NM_004992.4:c.-99+149_-99+151dup MANE Plus Clinical	NP_004983.1:n.-99+149_-99+151dup