Canonical Allele Identifier: CA2695105440

Gene: MECP2

Linked Data

• gnomAD v4: X-154097650-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097652del , CM000685.2:g.154097652del	GRCh38
NC_000023.10:g.153363109del , CM000685.1:g.153363109del	GRCh37
NC_000023.9:g.153016303del	NCBI36
NG_007107.2:g.44471del
NG_007107.3:g.44453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-146del MANE Plus Clinical	ENSP00000301948.6:n.-146del
ENST00000453960.7:c.15del MANE Select	ENSP00000395535.2:p.Ala6ProfsTer?
ENST00000303391.10:c.-146del	ENSP00000301948.6:n.-146del
ENST00000369957.5:c.-146del	ENSP00000358973.4:n.-146del
ENST00000407218.5:c.15del	ENSP00000384865.2:p.Ala6ProfsTer?
ENST00000453960.6:c.15del	ENSP00000395535.2:p.Ala6ProfsTer?
ENST00000619732.4:c.-146del	ENSP00000480973.1:n.-146del
ENST00000627864.1:n.30del
ENST00000628176.2:c.-146del	ENSP00000486978.1:n.-146del
ENST00000631210.1:n.305+7130del
NM_001110792.1:c.15del	NP_001104262.1:p.Ala6ProfsTer?
NM_001316337.1:c.-593del	NP_001303266.1:n.-593del
NM_004992.3:c.-146del	NP_004983.1:n.-146del
XM_005274682.3:c.-537del	XP_005274739.1:n.-537del
NM_001110792.2:c.15del MANE Select	NP_001104262.1:p.Ala6ProfsTer?
NM_001316337.2:c.-593del	NP_001303266.1:n.-593del
NM_001369391.2:c.-888del	NP_001356320.1:n.-888del
NM_001369392.2:c.-537del	NP_001356321.1:n.-537del
NM_001369393.2:c.-413del	NP_001356322.1:n.-413del
NM_001386137.1:c.-818del	NP_001373066.1:n.-818del
NM_001386138.1:c.-706del	NP_001373067.1:n.-706del
NM_001386139.1:c.-582del	NP_001373068.1:n.-582del
NM_004992.4:c.-146del MANE Plus Clinical	NP_004983.1:n.-146del