Canonical Allele Identifier: CA2466592644

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154092183_154092209delinsCCTGAGCCCTAACATCCCAGCTACCAT , CM000685.2:g.154092183_154092209delinsCCTGAGCCCTAACATCCCAGCTACCAT	GRCh38
NC_000023.10:g.153357641_153357667delinsCCTGAGCCCTAACATCCCAGCTACCAT , CM000685.1:g.153357641_153357667delinsCCTGAGCCCTAACATCCCAGCTACCAT	GRCh37
NC_000023.9:g.153010835_153010861delinsCCTGAGCCCTAACATCCCAGCTACCAT	NCBI36
NG_007107.2:g.49912_49938delinsATGGTAGCTGGGATGTTAGGGCTCAGG
NG_007107.3:g.49895_49921delinsATGGTAGCTGGGATGTTAGGGCTCAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000700484.1:n.22+5395_22+5421delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000303391.11:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000453960.7:c.62+5395_62+5421delinsATGGTAGCTGGGATGTTAGGGCTCAGG MANE Select	ENSP00000395535.2:n.62+5395_62+5421delins...
ENST00000611468.2:n.99_124+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000630151.2:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000637533.1:n.57+4760_57+4786delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000637791.1:n.53_78+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000674996.1:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000675526.1:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000675841.1:n.99_124+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000676382.1:n.22+5395_22+5421delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000303391.10:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000369957.5:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000407218.5:c.62+5395_62+5421delinsATGGTAGCTGGGATGTTAGGGCTCAGG	ENSP00000384865.2:n.62+5395_62+5421delins...
ENST00000415944.3:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000453960.6:c.62+5395_62+5421delinsATGGTAGCTGGGATGTTAGGGCTCAGG	ENSP00000395535.2:n.62+5395_62+5421delins...
ENST00000496908.5:n.157+4604_157+4630delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000611468.1:c.-12_14+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000619732.4:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000622433.4:c.-12_14+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000627864.1:n.176_201+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000628176.2:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000630151.1:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
ENST00000631210.1:n.305+12572_305+12598delinsATGGTAGCTGGGATGTTAGGGCTCAGG
NM_001110792.1:c.62+5395_62+5421delinsATGGTAGCTGGGATGTTAGGGCTCAGG	NP_001104262.1:n.62+5395_62+5421delinsATG...
NM_001316337.1:c.-447_-422+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
NM_004992.3:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
XM_005274681.3:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
XM_005274682.3:c.-391_-366+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
XM_024452383.1:c.-817_-792+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
XM_024452384.1:c.-391_-366+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
NM_001110792.2:c.62+5395_62+5421delinsATGGTAGCTGGGATGTTAGGGCTCAGG MANE Select	NP_001104262.1:n.62+5395_62+5421delinsATG...
NM_001316337.2:c.-447_-422+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
NM_001369391.2:c.-742_-717+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
NM_001369392.2:c.-391_-366+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
NM_001369393.2:c.-366+5395_-366+5421delinsATGGTAGCTGGGATGTTAGGGCTCAGG	NP_001356322.1:n.-366+5395_-366+5421delin...
NM_001369394.1:c.-254+4604_-254+4630delinsATGGTAGCTGGGATGTTAGGGCTCAGG	NP_001356323.1:n.-254+4604_-254+4630delin...
NM_001369394.2:c.-254+4604_-254+4630delinsATGGTAGCTGGGATGTTAGGGCTCAGG	NP_001356323.1:n.-254+4604_-254+4630delin...
NM_001386137.1:c.-672_-647+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
NM_001386138.1:c.-560_-535+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG
NM_001386139.1:c.-535+5395_-535+5421delinsATGGTAGCTGGGATGTTAGGGCTCAGG	NP_001373068.1:n.-535+5395_-535+5421delin...
NM_004992.4:c.1_26+1delinsATGGTAGCTGGGATGTTAGGGCTCAGG