Canonical Allele Identifier: CA2695105436

Gene: MECP2

Linked Data

• gnomAD v4: X-154097630-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097632del , CM000685.2:g.154097632del	GRCh38
NC_000023.10:g.153363089del , CM000685.1:g.153363089del	GRCh37
NC_000023.9:g.153016283del	NCBI36
NG_007107.2:g.44491del
NG_007107.3:g.44473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-126del MANE Plus Clinical	ENSP00000301948.6:n.-126del
ENST00000453960.7:c.35del MANE Select	ENSP00000395535.2:p.Gly12GlufsTer?
ENST00000303391.10:c.-126del	ENSP00000301948.6:n.-126del
ENST00000369957.5:c.-126del	ENSP00000358973.4:n.-126del
ENST00000407218.5:c.35del	ENSP00000384865.2:p.Gly12GlufsTer?
ENST00000453960.6:c.35del	ENSP00000395535.2:p.Gly12GlufsTer?
ENST00000619732.4:c.-126del	ENSP00000480973.1:n.-126del
ENST00000627864.1:n.50del
ENST00000628176.2:c.-126del	ENSP00000486978.1:n.-126del
ENST00000631210.1:n.305+7150del
NM_001110792.1:c.35del	NP_001104262.1:p.Gly12GlufsTer?
NM_001316337.1:c.-573del	NP_001303266.1:n.-573del
NM_004992.3:c.-126del	NP_004983.1:n.-126del
XM_005274682.3:c.-517del	XP_005274739.1:n.-517del
NM_001110792.2:c.35del MANE Select	NP_001104262.1:p.Gly12GlufsTer?
NM_001316337.2:c.-573del	NP_001303266.1:n.-573del
NM_001369391.2:c.-868del	NP_001356320.1:n.-868del
NM_001369392.2:c.-517del	NP_001356321.1:n.-517del
NM_001369393.2:c.-393del	NP_001356322.1:n.-393del
NM_001386137.1:c.-798del	NP_001373066.1:n.-798del
NM_001386138.1:c.-686del	NP_001373067.1:n.-686del
NM_001386139.1:c.-562del	NP_001373068.1:n.-562del
NM_004992.4:c.-126del MANE Plus Clinical	NP_004983.1:n.-126del