Canonical Allele Identifier: CA2466594788

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097642_154097643delinsCG , CM000685.2:g.154097642_154097643delinsCG	GRCh38
NC_000023.10:g.153363099_153363100delinsCG , CM000685.1:g.153363099_153363100delinsCG	GRCh37
NC_000023.9:g.153016293_153016294delinsCG	NCBI36
NG_007107.2:g.44479_44480delinsCG
NG_007107.3:g.44461_44462delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-138_-137delinsCG MANE Plus Clinical	ENSP00000301948.6:n.-138_-137delinsCG
ENST00000453960.7:c.23_24delinsCG MANE Select	ENSP00000395535.2:p.Ala8=
ENST00000303391.10:c.-138_-137delinsCG	ENSP00000301948.6:n.-138_-137delinsCG
ENST00000369957.5:c.-138_-137delinsCG	ENSP00000358973.4:n.-138_-137delinsCG
ENST00000407218.5:c.23_24delinsCG	ENSP00000384865.2:p.Ala8=
ENST00000453960.6:c.23_24delinsCG	ENSP00000395535.2:p.Ala8=
ENST00000619732.4:c.-138_-137delinsCG	ENSP00000480973.1:n.-138_-137delinsCG
ENST00000627864.1:n.38_39delinsCG
ENST00000628176.2:c.-138_-137delinsCG	ENSP00000486978.1:n.-138_-137delinsCG
ENST00000631210.1:n.305+7138_305+7139delinsCG
NM_001110792.1:c.23_24delinsCG	NP_001104262.1:p.Ala8=
NM_001316337.1:c.-585_-584delinsCG	NP_001303266.1:n.-585_-584delinsCG
NM_004992.3:c.-138_-137delinsCG	NP_004983.1:n.-138_-137delinsCG
XM_005274682.3:c.-529_-528delinsCG	XP_005274739.1:n.-529_-528delinsCG
NM_001110792.2:c.23_24delinsCG MANE Select	NP_001104262.1:p.Ala8=
NM_001316337.2:c.-585_-584delinsCG	NP_001303266.1:n.-585_-584delinsCG
NM_001369391.2:c.-880_-879delinsCG	NP_001356320.1:n.-880_-879delinsCG
NM_001369392.2:c.-529_-528delinsCG	NP_001356321.1:n.-529_-528delinsCG
NM_001369393.2:c.-405_-404delinsCG	NP_001356322.1:n.-405_-404delinsCG
NM_001386137.1:c.-810_-809delinsCG	NP_001373066.1:n.-810_-809delinsCG
NM_001386138.1:c.-698_-697delinsCG	NP_001373067.1:n.-698_-697delinsCG
NM_001386139.1:c.-574_-573delinsCG	NP_001373068.1:n.-574_-573delinsCG
NM_004992.4:c.-138_-137delinsCG MANE Plus Clinical	NP_004983.1:n.-138_-137delinsCG