Canonical Allele Identifier: CA2555535840

Gene: MECP2

Linked Data

• gnomAD v4: X-154097618-GCCTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097630_154097635del , CM000685.2:g.154097630_154097635del	GRCh38
NC_000023.10:g.153363087_153363092del , CM000685.1:g.153363087_153363092del	GRCh37
NC_000023.9:g.153016281_153016286del	NCBI36
NG_007107.2:g.44498_44503del
NG_007107.3:g.44480_44485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-119_-114del MANE Plus Clinical	ENSP00000301948.6:n.-119_-114del
ENST00000453960.7:c.42_47del MANE Select	ENSP00000395535.2:p.Gly15_Gly16del
ENST00000303391.10:c.-119_-114del	ENSP00000301948.6:n.-119_-114del
ENST00000369957.5:c.-119_-114del	ENSP00000358973.4:n.-119_-114del
ENST00000407218.5:c.42_47del	ENSP00000384865.2:p.Gly15_Gly16del
ENST00000453960.6:c.42_47del	ENSP00000395535.2:p.Gly15_Gly16del
ENST00000619732.4:c.-119_-114del	ENSP00000480973.1:n.-119_-114del
ENST00000627864.1:n.57_62del
ENST00000628176.2:c.-119_-114del	ENSP00000486978.1:n.-119_-114del
ENST00000631210.1:n.305+7157_305+7162del
NM_001110792.1:c.42_47del	NP_001104262.1:p.Gly15_Gly16del
NM_001316337.1:c.-566_-561del	NP_001303266.1:n.-566_-561del
NM_004992.3:c.-119_-114del	NP_004983.1:n.-119_-114del
XM_005274682.3:c.-510_-505del	XP_005274739.1:n.-510_-505del
NM_001110792.2:c.42_47del MANE Select	NP_001104262.1:p.Gly15_Gly16del
NM_001316337.2:c.-566_-561del	NP_001303266.1:n.-566_-561del
NM_001369391.2:c.-861_-856del	NP_001356320.1:n.-861_-856del
NM_001369392.2:c.-510_-505del	NP_001356321.1:n.-510_-505del
NM_001369393.2:c.-386_-381del	NP_001356322.1:n.-386_-381del
NM_001386137.1:c.-791_-786del	NP_001373066.1:n.-791_-786del
NM_001386138.1:c.-679_-674del	NP_001373067.1:n.-679_-674del
NM_001386139.1:c.-555_-550del	NP_001373068.1:n.-555_-550del
NM_004992.4:c.-119_-114del MANE Plus Clinical	NP_004983.1:n.-119_-114del