Canonical Allele Identifier: CA2466570843

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031149_154031150delinsGA , CM000685.2:g.154031149_154031150delinsGA	GRCh38
NC_000023.10:g.153296600_153296601delinsGA , CM000685.1:g.153296600_153296601delinsGA	GRCh37
NC_000023.9:g.152949794_152949795delinsGA	NCBI36
NG_007107.2:g.110978_110979delinsTC
NG_007107.3:g.110954_110955delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.678_679delinsTC MANE Plus Clinical	ENSP00000301948.6:p.Phe226=
ENST00000453960.7:c.714_715delinsTC MANE Select	ENSP00000395535.2:p.Phe238=
ENST00000637917.1:c.66-214_66-213delinsTC
ENST00000303391.10:c.678_679delinsTC	ENSP00000301948.6:p.Phe226=
ENST00000407218.5:c.*50_*51delinsTC	ENSP00000384865.2:n.*50_*51delinsTC
ENST00000453960.6:c.714_715delinsTC	ENSP00000395535.2:p.Phe238=
ENST00000619732.4:c.678_679delinsTC	ENSP00000480973.1:p.Phe226=
ENST00000622433.4:c.666_667delinsTC	ENSP00000484470.1:p.Phe222=
ENST00000628176.2:c.*50_*51delinsTC	ENSP00000486978.1:n.*50_*51delinsTC
NM_001110792.1:c.714_715delinsTC	NP_001104262.1:p.Phe238=
NM_001316337.1:c.399_400delinsTC	NP_001303266.1:p.Phe133=
NM_004992.3:c.678_679delinsTC	NP_004983.1:p.Phe226=
XM_005274681.3:c.678_679delinsTC	XP_005274738.1:p.Phe226=
XM_005274682.3:c.399_400delinsTC	XP_005274739.1:p.Phe133=
XM_005274683.3:c.399_400delinsTC	XP_005274740.1:p.Phe133=
XM_006724819.2:c.9_10delinsTC	XP_006724882.1:p.Phe3=
XM_011531166.1:c.399_400delinsTC	XP_011529468.1:p.Phe133=
XM_006724819.3:c.9_10delinsTC	XP_006724882.1:p.Phe3=
XM_011531166.2:c.399_400delinsTC	XP_011529468.1:p.Phe133=
XM_024452383.1:c.399_400delinsTC	XP_024308151.1:p.Phe133=
XM_024452384.1:c.399_400delinsTC	XP_024308152.1:p.Phe133=
NM_001110792.2:c.714_715delinsTC MANE Select	NP_001104262.1:p.Phe238=
NM_001316337.2:c.399_400delinsTC	NP_001303266.1:p.Phe133=
NM_001369391.2:c.399_400delinsTC	NP_001356320.1:p.Phe133=
NM_001369392.2:c.399_400delinsTC	NP_001356321.1:p.Phe133=
NM_001369393.2:c.399_400delinsTC	NP_001356322.1:p.Phe133=
NM_001369394.1:c.399_400delinsTC	NP_001356323.1:p.Phe133=
NM_001369394.2:c.399_400delinsTC	NP_001356323.1:p.Phe133=
NM_001386137.1:c.9_10delinsTC	NP_001373066.1:p.Phe3=
NM_001386138.1:c.9_10delinsTC	NP_001373067.1:p.Phe3=
NM_001386139.1:c.9_10delinsTC	NP_001373068.1:p.Phe3=
NM_004992.4:c.678_679delinsTC MANE Plus Clinical	NP_004983.1:p.Phe226=