Canonical Allele Identifier: CA2695105445

Gene: MECP2

Linked Data

• gnomAD v4: X-154097663-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097664del , CM000685.2:g.154097664del	GRCh38
NC_000023.10:g.153363121del , CM000685.1:g.153363121del	GRCh37
NC_000023.9:g.153016315del	NCBI36
NG_007107.2:g.44458del
NG_007107.3:g.44440del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-159del MANE Plus Clinical	ENSP00000301948.6:n.-159del
ENST00000453960.7:c.2del MANE Select	ENSP00000395535.2:p.Met1ArgfsTer?
ENST00000303391.10:c.-159del	ENSP00000301948.6:n.-159del
ENST00000407218.5:c.2del	ENSP00000384865.2:p.Met1ArgfsTer?
ENST00000453960.6:c.2del	ENSP00000395535.2:p.Met1ArgfsTer?
ENST00000619732.4:c.-159del	ENSP00000480973.1:n.-159del
ENST00000627864.1:n.17del
ENST00000628176.2:c.-159del	ENSP00000486978.1:n.-159del
ENST00000631210.1:n.305+7117del
NM_001110792.1:c.2del	NP_001104262.1:p.Met1ArgfsTer?
NM_001316337.1:c.-606del	NP_001303266.1:n.-606del
NM_004992.3:c.-159del	NP_004983.1:n.-159del
XM_005274682.3:c.-550del	XP_005274739.1:n.-550del
NM_001110792.2:c.2del MANE Select	NP_001104262.1:p.Met1ArgfsTer?
NM_001316337.2:c.-606del	NP_001303266.1:n.-606del
NM_001369391.2:c.-901del	NP_001356320.1:n.-901del
NM_001369392.2:c.-550del	NP_001356321.1:n.-550del
NM_001369393.2:c.-426del	NP_001356322.1:n.-426del
NM_001386137.1:c.-831del	NP_001373066.1:n.-831del
NM_001386138.1:c.-719del	NP_001373067.1:n.-719del
NM_001386139.1:c.-595del	NP_001373068.1:n.-595del
NM_004992.4:c.-159del MANE Plus Clinical	NP_004983.1:n.-159del