Canonical Allele Identifier: CA2695237702

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154092180_154092183del , CM000685.2:g.154092180_154092183del	GRCh38
NC_000023.10:g.153357638_153357641del , CM000685.1:g.153357638_153357641del	GRCh37
NC_000023.9:g.153010832_153010835del	NCBI36
NG_007107.2:g.49942_49945del
NG_007107.3:g.49925_49928del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700484.1:n.22+5425_22+5428del
ENST00000303391.11:c.26+5_26+8del MANE Plus Clinical	ENSP00000301948.6:n.26+5_26+8del
ENST00000453960.7:c.62+5425_62+5428del MANE Select	ENSP00000395535.2:n.62+5425_62+5428del
ENST00000611468.2:n.124+5_124+8del
ENST00000630151.2:c.26+5_26+8del	ENSP00000486089.1:n.26+5_26+8del
ENST00000637533.1:n.57+4790_57+4793del
ENST00000637791.1:n.78+5_78+8del
ENST00000674996.1:c.26+5_26+8del	ENSP00000502832.1:n.26+5_26+8del
ENST00000675526.1:c.26+5_26+8del	ENSP00000501710.1:n.26+5_26+8del
ENST00000675841.1:n.124+5_124+8del
ENST00000676382.1:n.22+5425_22+5428del
ENST00000303391.10:c.26+5_26+8del	ENSP00000301948.6:n.26+5_26+8del
ENST00000369957.5:c.26+5_26+8del	ENSP00000358973.4:n.26+5_26+8del
ENST00000407218.5:c.62+5425_62+5428del	ENSP00000384865.2:n.62+5425_62+5428del
ENST00000415944.3:c.26+5_26+8del	ENSP00000416267.1:n.26+5_26+8del
ENST00000453960.6:c.62+5425_62+5428del	ENSP00000395535.2:n.62+5425_62+5428del
ENST00000496908.5:n.157+4634_157+4637del
ENST00000611468.1:c.14+5_14+8del	ENSP00000479736.1:n.14+5_14+8del
ENST00000619732.4:c.26+5_26+8del	ENSP00000480973.1:n.26+5_26+8del
ENST00000622433.4:c.14+5_14+8del	ENSP00000484470.1:n.14+5_14+8del
ENST00000627864.1:n.201+5_201+8del
ENST00000628176.2:c.26+5_26+8del	ENSP00000486978.1:n.26+5_26+8del
ENST00000630151.1:c.26+5_26+8del	ENSP00000486089.1:n.26+5_26+8del
ENST00000631210.1:n.305+12602_305+12605del
NM_001110792.1:c.62+5425_62+5428del	NP_001104262.1:n.62+5425_62+5428del
NM_001316337.1:c.-422+5_-422+8del	NP_001303266.1:n.-422+5_-422+8del
NM_004992.3:c.26+5_26+8del	NP_004983.1:n.26+5_26+8del
XM_005274681.3:c.26+5_26+8del	XP_005274738.1:n.26+5_26+8del
XM_005274682.3:c.-366+5_-366+8del	XP_005274739.1:n.-366+5_-366+8del
XM_024452383.1:c.-792+5_-792+8del	XP_024308151.1:n.-792+5_-792+8del
XM_024452384.1:c.-366+5_-366+8del	XP_024308152.1:n.-366+5_-366+8del
NM_001110792.2:c.62+5425_62+5428del MANE Select	NP_001104262.1:n.62+5425_62+5428del
NM_001316337.2:c.-422+5_-422+8del	NP_001303266.1:n.-422+5_-422+8del
NM_001369391.2:c.-717+5_-717+8del	NP_001356320.1:n.-717+5_-717+8del
NM_001369392.2:c.-366+5_-366+8del	NP_001356321.1:n.-366+5_-366+8del
NM_001369393.2:c.-366+5425_-366+5428del	NP_001356322.1:n.-366+5425_-366+5428del
NM_001369394.1:c.-254+4634_-254+4637del	NP_001356323.1:n.-254+4634_-254+4637del
NM_001369394.2:c.-254+4634_-254+4637del	NP_001356323.1:n.-254+4634_-254+4637del
NM_001386137.1:c.-647+5_-647+8del	NP_001373066.1:n.-647+5_-647+8del
NM_001386138.1:c.-535+5_-535+8del	NP_001373067.1:n.-535+5_-535+8del
NM_001386139.1:c.-535+5425_-535+5428del	NP_001373068.1:n.-535+5425_-535+5428del
NM_004992.4:c.26+5_26+8del MANE Plus Clinical	NP_004983.1:n.26+5_26+8del