Canonical Allele Identifier: CA2695105444

Gene: MECP2

Linked Data

• gnomAD v4: X-154097659-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097660_154097661del , CM000685.2:g.154097660_154097661del	GRCh38
NC_000023.10:g.153363117_153363118del , CM000685.1:g.153363117_153363118del	GRCh37
NC_000023.9:g.153016311_153016312del	NCBI36
NG_007107.2:g.44461_44462del
NG_007107.3:g.44443_44444del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-156_-155del MANE Plus Clinical	ENSP00000301948.6:n.-156_-155del
ENST00000453960.7:c.5_6del MANE Select	ENSP00000395535.2:p.Ala2GlyfsTer?
ENST00000303391.10:c.-156_-155del	ENSP00000301948.6:n.-156_-155del
ENST00000369957.5:c.-156_-155del	ENSP00000358973.4:n.-156_-155del
ENST00000407218.5:c.5_6del	ENSP00000384865.2:p.Ala2GlyfsTer?
ENST00000453960.6:c.5_6del	ENSP00000395535.2:p.Ala2GlyfsTer?
ENST00000619732.4:c.-156_-155del	ENSP00000480973.1:n.-156_-155del
ENST00000627864.1:n.20_21del
ENST00000628176.2:c.-156_-155del	ENSP00000486978.1:n.-156_-155del
ENST00000631210.1:n.305+7120_305+7121del
NM_001110792.1:c.5_6del	NP_001104262.1:p.Ala2GlyfsTer?
NM_001316337.1:c.-603_-602del	NP_001303266.1:n.-603_-602del
NM_004992.3:c.-156_-155del	NP_004983.1:n.-156_-155del
XM_005274682.3:c.-547_-546del	XP_005274739.1:n.-547_-546del
NM_001110792.2:c.5_6del MANE Select	NP_001104262.1:p.Ala2GlyfsTer?
NM_001316337.2:c.-603_-602del	NP_001303266.1:n.-603_-602del
NM_001369391.2:c.-898_-897del	NP_001356320.1:n.-898_-897del
NM_001369392.2:c.-547_-546del	NP_001356321.1:n.-547_-546del
NM_001369393.2:c.-423_-422del	NP_001356322.1:n.-423_-422del
NM_001386137.1:c.-828_-827del	NP_001373066.1:n.-828_-827del
NM_001386138.1:c.-716_-715del	NP_001373067.1:n.-716_-715del
NM_001386139.1:c.-592_-591del	NP_001373068.1:n.-592_-591del
NM_004992.4:c.-156_-155del MANE Plus Clinical	NP_004983.1:n.-156_-155del