Canonical Allele Identifier: CA2695105438

Gene: MECP2

Linked Data

• gnomAD v4: X-154097635-CGCTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097638_154097642del , CM000685.2:g.154097638_154097642del	GRCh38
NC_000023.10:g.153363095_153363099del , CM000685.1:g.153363095_153363099del	GRCh37
NC_000023.9:g.153016289_153016293del	NCBI36
NG_007107.2:g.44482_44486del
NG_007107.3:g.44464_44468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-135_-131del MANE Plus Clinical	ENSP00000301948.6:n.-135_-131del
ENST00000453960.7:c.26_30del MANE Select	ENSP00000395535.2:p.Pro9ArgfsTer?
ENST00000303391.10:c.-135_-131del	ENSP00000301948.6:n.-135_-131del
ENST00000369957.5:c.-135_-131del	ENSP00000358973.4:n.-135_-131del
ENST00000407218.5:c.26_30del	ENSP00000384865.2:p.Pro9ArgfsTer?
ENST00000453960.6:c.26_30del	ENSP00000395535.2:p.Pro9ArgfsTer?
ENST00000619732.4:c.-135_-131del	ENSP00000480973.1:n.-135_-131del
ENST00000627864.1:n.41_45del
ENST00000628176.2:c.-135_-131del	ENSP00000486978.1:n.-135_-131del
ENST00000631210.1:n.305+7141_305+7145del
NM_001110792.1:c.26_30del	NP_001104262.1:p.Pro9ArgfsTer?
NM_001316337.1:c.-582_-578del	NP_001303266.1:n.-582_-578del
NM_004992.3:c.-135_-131del	NP_004983.1:n.-135_-131del
XM_005274682.3:c.-526_-522del	XP_005274739.1:n.-526_-522del
NM_001110792.2:c.26_30del MANE Select	NP_001104262.1:p.Pro9ArgfsTer?
NM_001316337.2:c.-582_-578del	NP_001303266.1:n.-582_-578del
NM_001369391.2:c.-877_-873del	NP_001356320.1:n.-877_-873del
NM_001369392.2:c.-526_-522del	NP_001356321.1:n.-526_-522del
NM_001369393.2:c.-402_-398del	NP_001356322.1:n.-402_-398del
NM_001386137.1:c.-807_-803del	NP_001373066.1:n.-807_-803del
NM_001386138.1:c.-695_-691del	NP_001373067.1:n.-695_-691del
NM_001386139.1:c.-571_-567del	NP_001373068.1:n.-571_-567del
NM_004992.4:c.-135_-131del MANE Plus Clinical	NP_004983.1:n.-135_-131del