Canonical Allele Identifier: CA2695237703

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154092188_154092193dup , CM000685.2:g.154092188_154092193dup	GRCh38
NC_000023.10:g.153357646_153357651dup , CM000685.1:g.153357646_153357651dup	GRCh37
NC_000023.9:g.153010840_153010845dup	NCBI36
NG_007107.2:g.49929_49934dup
NG_007107.3:g.49912_49917dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700484.1:n.22+5412_22+5417dup
ENST00000303391.11:c.18_23dup MANE Plus Clinical	ENSP00000301948.6:p.Leu8_Arg9insGlyLeu
ENST00000453960.7:c.62+5412_62+5417dup MANE Select	ENSP00000395535.2:n.62+5412_62+5417dup
ENST00000611468.2:n.116_121dup
ENST00000630151.2:c.18_23dup	ENSP00000486089.1:p.Leu8_Arg9insGlyLeu
ENST00000637533.1:n.57+4777_57+4782dup
ENST00000637791.1:n.70_75dup
ENST00000674996.1:c.18_23dup	ENSP00000502832.1:p.Leu8_Arg9insGlyLeu
ENST00000675526.1:c.18_23dup	ENSP00000501710.1:p.Leu8_Arg9insGlyLeu
ENST00000675841.1:n.116_121dup
ENST00000676382.1:n.22+5412_22+5417dup
ENST00000303391.10:c.18_23dup	ENSP00000301948.6:p.Leu8_Arg9insGlyLeu
ENST00000369957.5:c.18_23dup	ENSP00000358973.4:p.Leu8_Ser9insGlyLeu
ENST00000407218.5:c.62+5412_62+5417dup	ENSP00000384865.2:n.62+5412_62+5417dup
ENST00000415944.3:c.18_23dup	ENSP00000416267.1:p.Leu8_Arg9insGlyLeu
ENST00000453960.6:c.62+5412_62+5417dup	ENSP00000395535.2:n.62+5412_62+5417dup
ENST00000496908.5:n.157+4621_157+4626dup
ENST00000611468.1:c.6_11dup	ENSP00000479736.1:p.Leu4_Arg5insGlyLeu
ENST00000619732.4:c.18_23dup	ENSP00000480973.1:p.Leu8_Arg9insGlyLeu
ENST00000622433.4:c.6_11dup	ENSP00000484470.1:p.Leu4_Arg5insGlyLeu
ENST00000627864.1:n.193_198dup
ENST00000628176.2:c.18_23dup	ENSP00000486978.1:p.Leu8_Arg9insGlyLeu
ENST00000630151.1:c.18_23dup	ENSP00000486089.1:p.Leu8_Arg9insGlyLeu
ENST00000631210.1:n.305+12589_305+12594dup
NM_001110792.1:c.62+5412_62+5417dup	NP_001104262.1:n.62+5412_62+5417dup
NM_001316337.1:c.-430_-425dup	NP_001303266.1:n.-430_-425dup
NM_004992.3:c.18_23dup	NP_004983.1:p.Leu8_Arg9insGlyLeu
XM_005274681.3:c.18_23dup	XP_005274738.1:p.Leu8_Arg9insGlyLeu
XM_005274682.3:c.-374_-369dup	XP_005274739.1:n.-374_-369dup
XM_024452383.1:c.-800_-795dup	XP_024308151.1:n.-800_-795dup
XM_024452384.1:c.-374_-369dup	XP_024308152.1:n.-374_-369dup
NM_001110792.2:c.62+5412_62+5417dup MANE Select	NP_001104262.1:n.62+5412_62+5417dup
NM_001316337.2:c.-430_-425dup	NP_001303266.1:n.-430_-425dup
NM_001369391.2:c.-725_-720dup	NP_001356320.1:n.-725_-720dup
NM_001369392.2:c.-374_-369dup	NP_001356321.1:n.-374_-369dup
NM_001369393.2:c.-366+5412_-366+5417dup	NP_001356322.1:n.-366+5412_-366+5417dup
NM_001369394.1:c.-254+4621_-254+4626dup	NP_001356323.1:n.-254+4621_-254+4626dup
NM_001369394.2:c.-254+4621_-254+4626dup	NP_001356323.1:n.-254+4621_-254+4626dup
NM_001386137.1:c.-655_-650dup	NP_001373066.1:n.-655_-650dup
NM_001386138.1:c.-543_-538dup	NP_001373067.1:n.-543_-538dup
NM_001386139.1:c.-535+5412_-535+5417dup	NP_001373068.1:n.-535+5412_-535+5417dup
NM_004992.4:c.18_23dup MANE Plus Clinical	NP_004983.1:p.Leu8_Arg9insGlyLeu