Canonical Allele Identifier: CA270441
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143594
dbSNP Id: rs267608486

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031347_154031348del , CM000685.2:g.154031347_154031348del GRCh38
NC_000023.10:g.153296798_153296799del , CM000685.1:g.153296798_153296799del GRCh37
NC_000023.9:g.152949992_152949993del NCBI36
NG_007107.2:g.110780_110781del
NG_007107.3:g.110756_110757del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.480_481del MANE Plus Clinical ENSP00000301948.6:p.Gly161GlufsTer13
ENST00000453960.7:c.516_517del MANE Select ENSP00000395535.2:p.Gly173GlufsTer13
ENST00000637917.1:c.65+48_65+49del
ENST00000303391.10:c.480_481del ENSP00000301948.6:p.Gly161GlufsTer13
ENST00000407218.5:c.468+48_468+49del ENSP00000384865.2:n.468+48_468+49del
ENST00000453960.6:c.516_517del ENSP00000395535.2:p.Gly173GlufsTer13
ENST00000486506.5:n.2828_2829del
ENST00000611468.1:c.468_469del ENSP00000479736.1:p.Gly157GlufsTer?
ENST00000619732.4:c.480_481del ENSP00000480973.1:p.Gly161GlufsTer13
ENST00000622433.4:c.468_469del ENSP00000484470.1:p.Gly157GlufsTer13
ENST00000628176.2:c.432+48_432+49del ENSP00000486978.1:n.432+48_432+49del
NM_001110792.1:c.516_517del NP_001104262.1:p.Gly173GlufsTer13
NM_001316337.1:c.201_202del NP_001303266.1:p.Gly68GlufsTer13
NM_004992.3:c.480_481del NP_004983.1:p.Gly161GlufsTer13
XM_005274681.3:c.480_481del XP_005274738.1:p.Gly161GlufsTer13
XM_005274682.3:c.201_202del XP_005274739.1:p.Gly68GlufsTer13
XM_005274683.3:c.201_202del XP_005274740.1:p.Gly68GlufsTer13
XM_006724819.2:c.-129+48_-129+49del XP_006724882.1:n.-129+48_-129+49del
XM_011531166.1:c.201_202del XP_011529468.1:p.Gly68GlufsTer13
XM_006724819.3:c.-129+48_-129+49del XP_006724882.1:n.-129+48_-129+49del
XM_011531166.2:c.201_202del XP_011529468.1:p.Gly68GlufsTer13
XM_024452383.1:c.201_202del XP_024308151.1:p.Gly68GlufsTer13
XM_024452384.1:c.201_202del XP_024308152.1:p.Gly68GlufsTer13
NM_001110792.2:c.516_517del MANE Select NP_001104262.1:p.Gly173GlufsTer13
NM_001316337.2:c.201_202del NP_001303266.1:p.Gly68GlufsTer13
NM_001369391.2:c.201_202del NP_001356320.1:p.Gly68GlufsTer13
NM_001369392.2:c.201_202del NP_001356321.1:p.Gly68GlufsTer13
NM_001369393.2:c.201_202del NP_001356322.1:p.Gly68GlufsTer13
NM_001369394.1:c.201_202del NP_001356323.1:p.Gly68GlufsTer13
NM_001369394.2:c.201_202del NP_001356323.1:p.Gly68GlufsTer13
NM_001386137.1:c.-129+48_-129+49del NP_001373066.1:n.-129+48_-129+49del
NM_001386138.1:c.-129+48_-129+49del NP_001373067.1:n.-129+48_-129+49del
NM_001386139.1:c.-129+48_-129+49del NP_001373068.1:n.-129+48_-129+49del
NM_004992.4:c.480_481del MANE Plus Clinical NP_004983.1:p.Gly161GlufsTer13