Canonical Allele Identifier: CA658581259

Gene: MECP2

Linked Data

• COSMIC: COSN24295010

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097636_154097637insTCC , CM000685.2:g.154097636_154097637insTCC	GRCh38
NC_000023.10:g.153363093_153363094insTCC , CM000685.1:g.153363093_153363094insTCC	GRCh37
NC_000023.9:g.153016287_153016288insTCC	NCBI36
NG_007107.2:g.44485_44486insGGA
NG_007107.3:g.44467_44468insGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-132_-131insGGA MANE Plus Clinical	ENSP00000301948.6:n.-132_-131insGGA
ENST00000453960.7:c.29_30insGGA MANE Select	ENSP00000395535.2:p.Ser10delinsArgAsp
ENST00000303391.10:c.-132_-131insGGA	ENSP00000301948.6:n.-132_-131insGGA
ENST00000369957.5:c.-132_-131insGGA	ENSP00000358973.4:n.-132_-131insGGA
ENST00000407218.5:c.29_30insGGA	ENSP00000384865.2:p.Ser10delinsArgAsp
ENST00000453960.6:c.29_30insGGA	ENSP00000395535.2:p.Ser10delinsArgAsp
ENST00000619732.4:c.-132_-131insGGA	ENSP00000480973.1:n.-132_-131insGGA
ENST00000627864.1:n.44_45insGGA
ENST00000628176.2:c.-132_-131insGGA	ENSP00000486978.1:n.-132_-131insGGA
ENST00000631210.1:n.305+7144_305+7145insGGA
NM_001110792.1:c.29_30insGGA	NP_001104262.1:p.Ser10delinsArgAsp
NM_001316337.1:c.-579_-578insGGA	NP_001303266.1:n.-579_-578insGGA
NM_004992.3:c.-132_-131insGGA	NP_004983.1:n.-132_-131insGGA
XM_005274682.3:c.-523_-522insGGA	XP_005274739.1:n.-523_-522insGGA
NM_001110792.2:c.29_30insGGA MANE Select	NP_001104262.1:p.Ser10delinsArgAsp
NM_001316337.2:c.-579_-578insGGA	NP_001303266.1:n.-579_-578insGGA
NM_001369391.2:c.-874_-873insGGA	NP_001356320.1:n.-874_-873insGGA
NM_001369392.2:c.-523_-522insGGA	NP_001356321.1:n.-523_-522insGGA
NM_001369393.2:c.-399_-398insGGA	NP_001356322.1:n.-399_-398insGGA
NM_001386137.1:c.-804_-803insGGA	NP_001373066.1:n.-804_-803insGGA
NM_001386138.1:c.-692_-691insGGA	NP_001373067.1:n.-692_-691insGGA
NM_001386139.1:c.-568_-567insGGA	NP_001373068.1:n.-568_-567insGGA
NM_004992.4:c.-132_-131insGGA MANE Plus Clinical	NP_004983.1:n.-132_-131insGGA