Canonical Allele Identifier: CA2466594759

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097608_154097619delinsTCTCCTCCTCGC , CM000685.2:g.154097608_154097619delinsTCTCCTCCTCGC	GRCh38
NC_000023.10:g.153363065_153363076delinsTCTCCTCCTCGC , CM000685.1:g.153363065_153363076delinsTCTCCTCCTCGC	GRCh37
NC_000023.9:g.153016259_153016270delinsTCTCCTCCTCGC	NCBI36
NG_007107.2:g.44503_44514delinsGCGAGGAGGAGA
NG_007107.3:g.44485_44496delinsGCGAGGAGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.7_18delinsGCGAGGAGGAGA
ENST00000303391.11:c.-114_-103delinsGCGAGGAGGAGA MANE Plus Clinical	ENSP00000301948.6:n.-114_-103delinsGCGAGGAGGAGA
ENST00000453960.7:c.47_58delinsGCGAGGAGGAGA MANE Select	ENSP00000395535.2:p.Gly16=
ENST00000676382.1:n.7_18delinsGCGAGGAGGAGA
ENST00000303391.10:c.-114_-103delinsGCGAGGAGGAGA	ENSP00000301948.6:n.-114_-103delinsGCGAGGAGGAGA
ENST00000369957.5:c.-114_-103delinsGCGAGGAGGAGA	ENSP00000358973.4:n.-114_-103delinsGCGAGGAGGAGA
ENST00000407218.5:c.47_58delinsGCGAGGAGGAGA	ENSP00000384865.2:p.Gly16=
ENST00000453960.6:c.47_58delinsGCGAGGAGGAGA	ENSP00000395535.2:p.Gly16=
ENST00000619732.4:c.-114_-103delinsGCGAGGAGGAGA	ENSP00000480973.1:n.-114_-103delinsGCGAGGAGGAGA
ENST00000627864.1:n.62_73delinsGCGAGGAGGAGA
ENST00000628176.2:c.-114_-103delinsGCGAGGAGGAGA	ENSP00000486978.1:n.-114_-103delinsGCGAGGAGGAGA
ENST00000631210.1:n.305+7162_305+7173delinsGCGAGGAGGAGA
NM_001110792.1:c.47_58delinsGCGAGGAGGAGA	NP_001104262.1:p.Gly16=
NM_001316337.1:c.-561_-550delinsGCGAGGAGGAGA	NP_001303266.1:n.-561_-550delinsGCGAGGAGGAGA
NM_004992.3:c.-114_-103delinsGCGAGGAGGAGA	NP_004983.1:n.-114_-103delinsGCGAGGAGGAGA
XM_005274682.3:c.-505_-494delinsGCGAGGAGGAGA	XP_005274739.1:n.-505_-494delinsGCGAGGAGGAGA
NM_001110792.2:c.47_58delinsGCGAGGAGGAGA MANE Select	NP_001104262.1:p.Gly16=
NM_001316337.2:c.-561_-550delinsGCGAGGAGGAGA	NP_001303266.1:n.-561_-550delinsGCGAGGAGGAGA
NM_001369391.2:c.-856_-845delinsGCGAGGAGGAGA	NP_001356320.1:n.-856_-845delinsGCGAGGAGGAGA
NM_001369392.2:c.-505_-494delinsGCGAGGAGGAGA	NP_001356321.1:n.-505_-494delinsGCGAGGAGGAGA
NM_001369393.2:c.-381_-370delinsGCGAGGAGGAGA	NP_001356322.1:n.-381_-370delinsGCGAGGAGGAGA
NM_001386137.1:c.-786_-775delinsGCGAGGAGGAGA	NP_001373066.1:n.-786_-775delinsGCGAGGAGGAGA
NM_001386138.1:c.-674_-663delinsGCGAGGAGGAGA	NP_001373067.1:n.-674_-663delinsGCGAGGAGGAGA
NM_001386139.1:c.-550_-539delinsGCGAGGAGGAGA	NP_001373068.1:n.-550_-539delinsGCGAGGAGGAGA
NM_004992.4:c.-114_-103delinsGCGAGGAGGAGA MANE Plus Clinical	NP_004983.1:n.-114_-103delinsGCGAGGAGGAGA