Canonical Allele Identifier: CA645228297

Gene: MECP2

Linked Data

• dbSNP Id: rs1557150924
• gnomAD v2: X-153363134-CT-C
• gnomAD v4: X-154097677-CT-C
• MyVariant Identifiers: chrX:g.153363135del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097681del , CM000685.2:g.154097681del	GRCh38
NC_000023.10:g.153363138del , CM000685.1:g.153363138del	GRCh37
NC_000023.9:g.153016332del	NCBI36
NG_007107.2:g.44444del
NG_007107.3:g.44426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-173del MANE Plus Clinical	ENSP00000301948.6:n.-173del
ENST00000453960.7:c.-13del MANE Select	ENSP00000395535.2:n.-13del
ENST00000303391.10:c.-173del	ENSP00000301948.6:n.-173del
ENST00000407218.5:c.-13del	ENSP00000384865.2:n.-13del
ENST00000453960.6:c.-13del	ENSP00000395535.2:n.-13del
ENST00000619732.4:c.-173del	ENSP00000480973.1:n.-173del
ENST00000628176.2:c.-173del	ENSP00000486978.1:n.-173del
ENST00000631210.1:n.305+7103del
NM_001110792.1:c.-13del	NP_001104262.1:n.-13del
NM_001316337.1:c.-620del	NP_001303266.1:n.-620del
NM_004992.3:c.-173del	NP_004983.1:n.-173del
XM_005274682.3:c.-564del	XP_005274739.1:n.-564del
NM_001110792.2:c.-13del MANE Select	NP_001104262.1:n.-13del
NM_001316337.2:c.-620del	NP_001303266.1:n.-620del
NM_001369391.2:c.-915del	NP_001356320.1:n.-915del
NM_001369392.2:c.-564del	NP_001356321.1:n.-564del
NM_001369393.2:c.-440del	NP_001356322.1:n.-440del
NM_001386137.1:c.-845del	NP_001373066.1:n.-845del
NM_001386138.1:c.-733del	NP_001373067.1:n.-733del
NM_001386139.1:c.-609del	NP_001373068.1:n.-609del
NM_004992.4:c.-173del MANE Plus Clinical	NP_004983.1:n.-173del