Canonical Allele Identifier: CA2466571642

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032481_154032482delinsTA , CM000685.2:g.154032481_154032482delinsTA	GRCh38
NC_000023.10:g.153297932_153297933delinsTA , CM000685.1:g.153297932_153297933delinsTA	GRCh37
NC_000023.9:g.152951126_152951127delinsTA	NCBI36
NG_007107.2:g.109646_109647delinsTA
NG_007107.3:g.109622_109623delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.102_103delinsTA MANE Plus Clinical	ENSP00000301948.6:p.Asp34=
ENST00000453960.7:c.138_139delinsTA MANE Select	ENSP00000395535.2:p.Asp46=
ENST00000611468.2:n.350_351delinsTA
ENST00000630151.2:c.102_103delinsTA	ENSP00000486089.1:p.Asp34=
ENST00000637533.1:n.133_134delinsTA
ENST00000676382.1:n.295_296delinsTA
ENST00000303391.10:c.102_103delinsTA	ENSP00000301948.6:p.Asp34=
ENST00000369957.5:c.*156_*157delinsTA	ENSP00000358973.4:n.*156_*157delinsTA
ENST00000407218.5:c.138_139delinsTA	ENSP00000384865.2:p.Asp46=
ENST00000415944.3:c.102_103delinsTA	ENSP00000416267.1:p.Asp34=
ENST00000453960.6:c.138_139delinsTA	ENSP00000395535.2:p.Asp46=
ENST00000460227.4:n.1251_1252delinsTA
ENST00000463644.5:n.1041_1042delinsTA
ENST00000481807.3:n.388_389delinsTA
ENST00000486506.5:n.2450_2451delinsTA
ENST00000488293.4:n.1151_1152delinsTA
ENST00000496908.5:n.233_234delinsTA
ENST00000611468.1:c.90_91delinsTA	ENSP00000479736.1:p.Asp30=
ENST00000619732.4:c.102_103delinsTA	ENSP00000480973.1:p.Asp34=
ENST00000622433.4:c.90_91delinsTA	ENSP00000484470.1:p.Asp30=
ENST00000625300.1:n.327_328delinsTA
ENST00000626422.2:n.812_813delinsTA
ENST00000628176.2:c.102_103delinsTA	ENSP00000486978.1:p.Asp34=
ENST00000630151.1:c.102_103delinsTA	ENSP00000486089.1:p.Asp34=
ENST00000631210.1:n.381_382delinsTA
NM_001110792.1:c.138_139delinsTA	NP_001104262.1:p.Asp46=
NM_001316337.1:c.-178_-177delinsTA	NP_001303266.1:n.-178_-177delinsTA
NM_004992.3:c.102_103delinsTA	NP_004983.1:p.Asp34=
XM_005274681.3:c.102_103delinsTA	XP_005274738.1:p.Asp34=
XM_005274682.3:c.-178_-177delinsTA	XP_005274739.1:n.-178_-177delinsTA
XM_005274683.3:c.-178_-177delinsTA	XP_005274740.1:n.-178_-177delinsTA
XM_011531166.1:c.-178_-177delinsTA	XP_011529468.1:n.-178_-177delinsTA
XM_006724819.3:c.-459_-458delinsTA	XP_006724882.1:n.-459_-458delinsTA
XM_011531166.2:c.-178_-177delinsTA	XP_011529468.1:n.-178_-177delinsTA
XM_024452383.1:c.-178_-177delinsTA	XP_024308151.1:n.-178_-177delinsTA
XM_024452384.1:c.-178_-177delinsTA	XP_024308152.1:n.-178_-177delinsTA
NM_001110792.2:c.138_139delinsTA MANE Select	NP_001104262.1:p.Asp46=
NM_001316337.2:c.-178_-177delinsTA	NP_001303266.1:n.-178_-177delinsTA
NM_001369391.2:c.-178_-177delinsTA	NP_001356320.1:n.-178_-177delinsTA
NM_001369392.2:c.-178_-177delinsTA	NP_001356321.1:n.-178_-177delinsTA
NM_001369393.2:c.-178_-177delinsTA	NP_001356322.1:n.-178_-177delinsTA
NM_001369394.1:c.-178_-177delinsTA	NP_001356323.1:n.-178_-177delinsTA
NM_001369394.2:c.-178_-177delinsTA	NP_001356323.1:n.-178_-177delinsTA
NM_001386137.1:c.-459_-458delinsTA	NP_001373066.1:n.-459_-458delinsTA
NM_001386138.1:c.-459_-458delinsTA	NP_001373067.1:n.-459_-458delinsTA
NM_001386139.1:c.-459_-458delinsTA	NP_001373068.1:n.-459_-458delinsTA
NM_004992.4:c.102_103delinsTA MANE Plus Clinical	NP_004983.1:p.Asp34=