Canonical Allele Identifier: CA645228292

Gene: MECP2

Linked Data

• dbSNP Id: rs1557150895
• gnomAD v2: X-153363101-CG-C
• gnomAD v4: X-154097644-CG-C
• MyVariant Identifiers: chrX:g.153363102del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097646del , CM000685.2:g.154097646del	GRCh38
NC_000023.10:g.153363103del , CM000685.1:g.153363103del	GRCh37
NC_000023.9:g.153016297del	NCBI36
NG_007107.2:g.44477del
NG_007107.3:g.44459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-140del MANE Plus Clinical	ENSP00000301948.6:n.-140del
ENST00000453960.7:c.21del MANE Select	ENSP00000395535.2:p.Ala8ArgfsTer?
ENST00000303391.10:c.-140del	ENSP00000301948.6:n.-140del
ENST00000369957.5:c.-140del	ENSP00000358973.4:n.-140del
ENST00000407218.5:c.21del	ENSP00000384865.2:p.Ala8ArgfsTer?
ENST00000453960.6:c.21del	ENSP00000395535.2:p.Ala8ArgfsTer?
ENST00000619732.4:c.-140del	ENSP00000480973.1:n.-140del
ENST00000627864.1:n.36del
ENST00000628176.2:c.-140del	ENSP00000486978.1:n.-140del
ENST00000631210.1:n.305+7136del
NM_001110792.1:c.21del	NP_001104262.1:p.Ala8ArgfsTer?
NM_001316337.1:c.-587del	NP_001303266.1:n.-587del
NM_004992.3:c.-140del	NP_004983.1:n.-140del
XM_005274682.3:c.-531del	XP_005274739.1:n.-531del
NM_001110792.2:c.21del MANE Select	NP_001104262.1:p.Ala8ArgfsTer?
NM_001316337.2:c.-587del	NP_001303266.1:n.-587del
NM_001369391.2:c.-882del	NP_001356320.1:n.-882del
NM_001369392.2:c.-531del	NP_001356321.1:n.-531del
NM_001369393.2:c.-407del	NP_001356322.1:n.-407del
NM_001386137.1:c.-812del	NP_001373066.1:n.-812del
NM_001386138.1:c.-700del	NP_001373067.1:n.-700del
NM_001386139.1:c.-576del	NP_001373068.1:n.-576del
NM_004992.4:c.-140del MANE Plus Clinical	NP_004983.1:n.-140del