Canonical Allele Identifier: CA270551
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143725
ClinVar RCV Id: RCV000133267
dbSNP Id: rs267608540

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030926_154030947del , CM000685.2:g.154030926_154030947del GRCh38
NC_000023.10:g.153296377_153296398del , CM000685.1:g.153296377_153296398del GRCh37
NC_000023.9:g.152949571_152949592del NCBI36
NG_007107.2:g.111181_111202del
NG_007107.3:g.111157_111178del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.881_902del MANE Plus Clinical ENSP00000301948.6:p.Arg294ProfsTer20
ENST00000453960.7:c.917_938del MANE Select ENSP00000395535.2:p.Arg306ProfsTer20
ENST00000637917.1:c.66-11_76del
ENST00000303391.10:c.881_902del ENSP00000301948.6:p.Arg294ProfsTer20
ENST00000407218.5:c.*253_*274del ENSP00000384865.2:n.*253_*274del
ENST00000453960.6:c.917_938del ENSP00000395535.2:p.Arg306ProfsTer20
ENST00000619732.4:c.881_902del ENSP00000480973.1:p.Arg294ProfsTer20
ENST00000622433.4:c.867_888del ENSP00000484470.1:p.Ile290ProfsTer?
ENST00000628176.2:c.*253_*274del ENSP00000486978.1:n.*253_*274del
NM_001110792.1:c.917_938del NP_001104262.1:p.Arg306ProfsTer20
NM_001316337.1:c.602_623del NP_001303266.1:p.Arg201ProfsTer20
NM_004992.3:c.881_902del NP_004983.1:p.Arg294ProfsTer20
XM_005274681.3:c.881_902del XP_005274738.1:p.Arg294ProfsTer20
XM_005274682.3:c.602_623del XP_005274739.1:p.Arg201ProfsTer20
XM_005274683.3:c.602_623del XP_005274740.1:p.Arg201ProfsTer20
XM_006724819.2:c.212_233del XP_006724882.1:p.Arg71ProfsTer20
XM_011531166.1:c.602_623del XP_011529468.1:p.Arg201ProfsTer20
XM_006724819.3:c.212_233del XP_006724882.1:p.Arg71ProfsTer20
XM_011531166.2:c.602_623del XP_011529468.1:p.Arg201ProfsTer20
XM_024452383.1:c.602_623del XP_024308151.1:p.Arg201ProfsTer20
XM_024452384.1:c.602_623del XP_024308152.1:p.Arg201ProfsTer20
NM_001110792.2:c.917_938del MANE Select NP_001104262.1:p.Arg306ProfsTer20
NM_001316337.2:c.602_623del NP_001303266.1:p.Arg201ProfsTer20
NM_001369391.2:c.602_623del NP_001356320.1:p.Arg201ProfsTer20
NM_001369392.2:c.602_623del NP_001356321.1:p.Arg201ProfsTer20
NM_001369393.2:c.602_623del NP_001356322.1:p.Arg201ProfsTer20
NM_001369394.1:c.602_623del NP_001356323.1:p.Arg201ProfsTer20
NM_001369394.2:c.602_623del NP_001356323.1:p.Arg201ProfsTer20
NM_001386137.1:c.212_233del NP_001373066.1:p.Arg71ProfsTer20
NM_001386138.1:c.212_233del NP_001373067.1:p.Arg71ProfsTer20
NM_001386139.1:c.212_233del NP_001373068.1:p.Arg71ProfsTer20
NM_004992.4:c.881_902del MANE Plus Clinical NP_004983.1:p.Arg294ProfsTer20