Canonical Allele Identifier: CA270296
Gene: MECP2 HGNC NCBI

Linked Data

dbSNP Id: rs61754436

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032397_154032398del , CM000685.2:g.154032397_154032398del GRCh38
NC_000023.10:g.153297848_153297849del , CM000685.1:g.153297848_153297849del GRCh37
NC_000023.9:g.152951042_152951043del NCBI36
NG_007107.2:g.109733_109734del
NG_007107.3:g.109709_109710del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.189_190del MANE Plus Clinical ENSP00000301948.6:p.Glu63AspfsTer27
ENST00000453960.7:c.225_226del MANE Select ENSP00000395535.2:p.Glu75AspfsTer27
ENST00000303391.10:c.189_190del ENSP00000301948.6:p.Glu63AspfsTer27
ENST00000369957.5:c.*243_*244del ENSP00000358973.4:n.*243_*244del
ENST00000407218.5:c.225_226del ENSP00000384865.2:p.Glu75AspfsTer27
ENST00000453960.6:c.225_226del ENSP00000395535.2:p.Glu75AspfsTer27
ENST00000486506.5:n.2537_2538del
ENST00000496908.5:n.320_321del
ENST00000611468.1:c.177_178del ENSP00000479736.1:p.Glu59AspfsTer27
ENST00000619732.4:c.189_190del ENSP00000480973.1:p.Glu63AspfsTer27
ENST00000622433.4:c.177_178del ENSP00000484470.1:p.Glu59AspfsTer27
ENST00000628176.2:c.189_190del ENSP00000486978.1:p.Glu63AspfsTer27
ENST00000631210.1:n.468_469del
NM_001110792.1:c.225_226del NP_001104262.1:p.Glu75AspfsTer27
NM_001316337.1:c.-91_-90del NP_001303266.1:n.-91_-90del
NM_004992.3:c.189_190del NP_004983.1:p.Glu63AspfsTer27
XM_005274681.3:c.189_190del XP_005274738.1:p.Glu63AspfsTer27
XM_005274682.3:c.-91_-90del XP_005274739.1:n.-91_-90del
XM_005274683.3:c.-91_-90del XP_005274740.1:n.-91_-90del
XM_011531166.1:c.-91_-90del XP_011529468.1:n.-91_-90del
XM_006724819.3:c.-372_-371del XP_006724882.1:n.-372_-371del
XM_011531166.2:c.-91_-90del XP_011529468.1:n.-91_-90del
XM_024452383.1:c.-91_-90del XP_024308151.1:n.-91_-90del
XM_024452384.1:c.-91_-90del XP_024308152.1:n.-91_-90del
NM_001110792.2:c.225_226del MANE Select NP_001104262.1:p.Glu75AspfsTer27
NM_001316337.2:c.-91_-90del NP_001303266.1:n.-91_-90del
NM_001369391.2:c.-91_-90del NP_001356320.1:n.-91_-90del
NM_001369392.2:c.-91_-90del NP_001356321.1:n.-91_-90del
NM_001369393.2:c.-91_-90del NP_001356322.1:n.-91_-90del
NM_001369394.1:c.-91_-90del NP_001356323.1:n.-91_-90del
NM_001369394.2:c.-91_-90del NP_001356323.1:n.-91_-90del
NM_001386137.1:c.-372_-371del NP_001373066.1:n.-372_-371del
NM_001386138.1:c.-372_-371del NP_001373067.1:n.-372_-371del
NM_001386139.1:c.-372_-371del NP_001373068.1:n.-372_-371del
NM_004992.4:c.189_190del MANE Plus Clinical NP_004983.1:p.Glu63AspfsTer27