Canonical Allele Identifier: CA2579736936

Gene: MECP2

Linked Data

• gnomAD v4: X-154097642-CGCGGCGGCGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097651_154097662del , CM000685.2:g.154097651_154097662del	GRCh38
NC_000023.10:g.153363108_153363119del , CM000685.1:g.153363108_153363119del	GRCh37
NC_000023.9:g.153016302_153016313del	NCBI36
NG_007107.2:g.44468_44479del
NG_007107.3:g.44450_44461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-149_-138del MANE Plus Clinical	ENSP00000301948.6:n.-149_-138del
ENST00000453960.7:c.12_23del MANE Select	ENSP00000395535.2:p.Ala5_Ala8del
ENST00000303391.10:c.-149_-138del	ENSP00000301948.6:n.-149_-138del
ENST00000369957.5:c.-149_-138del	ENSP00000358973.4:n.-149_-138del
ENST00000407218.5:c.12_23del	ENSP00000384865.2:p.Ala5_Ala8del
ENST00000453960.6:c.12_23del	ENSP00000395535.2:p.Ala5_Ala8del
ENST00000619732.4:c.-149_-138del	ENSP00000480973.1:n.-149_-138del
ENST00000627864.1:n.27_38del
ENST00000628176.2:c.-149_-138del	ENSP00000486978.1:n.-149_-138del
ENST00000631210.1:n.305+7127_305+7138del
NM_001110792.1:c.12_23del	NP_001104262.1:p.Ala5_Ala8del
NM_001316337.1:c.-596_-585del	NP_001303266.1:n.-596_-585del
NM_004992.3:c.-149_-138del	NP_004983.1:n.-149_-138del
XM_005274682.3:c.-540_-529del	XP_005274739.1:n.-540_-529del
NM_001110792.2:c.12_23del MANE Select	NP_001104262.1:p.Ala5_Ala8del
NM_001316337.2:c.-596_-585del	NP_001303266.1:n.-596_-585del
NM_001369391.2:c.-891_-880del	NP_001356320.1:n.-891_-880del
NM_001369392.2:c.-540_-529del	NP_001356321.1:n.-540_-529del
NM_001369393.2:c.-416_-405del	NP_001356322.1:n.-416_-405del
NM_001386137.1:c.-821_-810del	NP_001373066.1:n.-821_-810del
NM_001386138.1:c.-709_-698del	NP_001373067.1:n.-709_-698del
NM_001386139.1:c.-585_-574del	NP_001373068.1:n.-585_-574del
NM_004992.4:c.-149_-138del MANE Plus Clinical	NP_004983.1:n.-149_-138del