Canonical Allele Identifier: CA2466571001

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031376_154031377delinsTC , CM000685.2:g.154031376_154031377delinsTC	GRCh38
NC_000023.10:g.153296827_153296828delinsTC , CM000685.1:g.153296827_153296828delinsTC	GRCh37
NC_000023.9:g.152950021_152950022delinsTC	NCBI36
NG_007107.2:g.110751_110752delinsGA
NG_007107.3:g.110727_110728delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.451_452delinsGA MANE Plus Clinical	ENSP00000301948.6:p.Asp151=
ENST00000453960.7:c.487_488delinsGA MANE Select	ENSP00000395535.2:p.Asp163=
ENST00000637917.1:c.65+19_65+20delinsGA
ENST00000303391.10:c.451_452delinsGA	ENSP00000301948.6:p.Asp151=
ENST00000369957.5:c.*505_*506delinsGA	ENSP00000358973.4:n.*505_*506delinsGA
ENST00000407218.5:c.468+19_468+20delinsGA	ENSP00000384865.2:n.468+19_468+20delinsGA
ENST00000453960.6:c.487_488delinsGA	ENSP00000395535.2:p.Asp163=
ENST00000486506.5:n.2799_2800delinsGA
ENST00000611468.1:c.439_440delinsGA	ENSP00000479736.1:p.Asp147=
ENST00000619732.4:c.451_452delinsGA	ENSP00000480973.1:p.Asp151=
ENST00000622433.4:c.439_440delinsGA	ENSP00000484470.1:p.Asp147=
ENST00000628176.2:c.432+19_432+20delinsGA	ENSP00000486978.1:n.432+19_432+20delinsGA
NM_001110792.1:c.487_488delinsGA	NP_001104262.1:p.Asp163=
NM_001316337.1:c.172_173delinsGA	NP_001303266.1:p.Asp58=
NM_004992.3:c.451_452delinsGA	NP_004983.1:p.Asp151=
XM_005274681.3:c.451_452delinsGA	XP_005274738.1:p.Asp151=
XM_005274682.3:c.172_173delinsGA	XP_005274739.1:p.Asp58=
XM_005274683.3:c.172_173delinsGA	XP_005274740.1:p.Asp58=
XM_006724819.2:c.-129+19_-129+20delinsGA	XP_006724882.1:n.-129+19_-129+20delinsGA
XM_011531166.1:c.172_173delinsGA	XP_011529468.1:p.Asp58=
XM_006724819.3:c.-129+19_-129+20delinsGA	XP_006724882.1:n.-129+19_-129+20delinsGA
XM_011531166.2:c.172_173delinsGA	XP_011529468.1:p.Asp58=
XM_024452383.1:c.172_173delinsGA	XP_024308151.1:p.Asp58=
XM_024452384.1:c.172_173delinsGA	XP_024308152.1:p.Asp58=
NM_001110792.2:c.487_488delinsGA MANE Select	NP_001104262.1:p.Asp163=
NM_001316337.2:c.172_173delinsGA	NP_001303266.1:p.Asp58=
NM_001369391.2:c.172_173delinsGA	NP_001356320.1:p.Asp58=
NM_001369392.2:c.172_173delinsGA	NP_001356321.1:p.Asp58=
NM_001369393.2:c.172_173delinsGA	NP_001356322.1:p.Asp58=
NM_001369394.1:c.172_173delinsGA	NP_001356323.1:p.Asp58=
NM_001369394.2:c.172_173delinsGA	NP_001356323.1:p.Asp58=
NM_001386137.1:c.-129+19_-129+20delinsGA	NP_001373066.1:n.-129+19_-129+20delinsGA
NM_001386138.1:c.-129+19_-129+20delinsGA	NP_001373067.1:n.-129+19_-129+20delinsGA
NM_001386139.1:c.-129+19_-129+20delinsGA	NP_001373068.1:n.-129+19_-129+20delinsGA
NM_004992.4:c.451_452delinsGA MANE Plus Clinical	NP_004983.1:p.Asp151=