Canonical Allele Identifier: CA2739273827
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2861149
ClinVar RCV Id: RCV003638127

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154029810_154030728del , CM000685.2:g.154029810_154030728del GRCh38
NC_000023.10:g.153295261_153296179del , CM000685.1:g.153295261_153296179del GRCh37
NC_000023.9:g.152948455_152949373del NCBI36
NG_007107.2:g.111400_112318del
NG_007107.3:g.111376_112294del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.1100_*557del MANE Plus Clinical ENSP00000301948.6:n.[c.1100_*557del;His36...
ENST00000453960.7:c.1136_*557del MANE Select ENSP00000395535.2:n.[c.1136_*557del;His37...
ENST00000303391.10:c.1100_*557del ENSP00000301948.6:n.[c.1100_*557del;His36...
ENST00000619732.4:c.1100_*484del
NM_004992.3:c.1100_*557del NP_004983.1:n.[c.1100_*557del;His367Leufs...
XM_005274681.3:c.1100_*557del XP_005274738.1:n.[c.1100_*557del;His367Le...
XM_005274682.3:c.821_*557del XP_005274739.1:n.[c.821_*557del;His274Leu...
XM_005274683.3:c.821_*557del XP_005274740.1:n.[c.821_*557del;His274Leu...
XM_006724819.2:c.431_*557del XP_006724882.1:n.[c.431_*557del;His144Leu...
XM_011531166.1:c.821_*557del XP_011529468.1:n.[c.821_*557del;His274Leu...
XM_006724819.3:c.431_*557del XP_006724882.1:n.[c.431_*557del;His144Leu...
XM_011531166.2:c.821_*557del XP_011529468.1:n.[c.821_*557del;His274Leu...
XM_024452383.1:c.821_*557del XP_024308151.1:n.[c.821_*557del;His274Leu...
XM_024452384.1:c.821_*557del XP_024308152.1:n.[c.821_*557del;His274Leu...
NM_001110792.2:c.1136_*557del MANE Select NP_001104262.1:n.[c.1136_*557del;His379Le...
NM_001316337.2:c.821_*557del NP_001303266.1:n.[c.821_*557del;His274Leu...
NM_001369391.2:c.821_*557del NP_001356320.1:n.[c.821_*557del;His274Leu...
NM_001369392.2:c.821_*557del NP_001356321.1:n.[c.821_*557del;His274Leu...
NM_001369393.2:c.821_*557del NP_001356322.1:n.[c.821_*557del;His274Leu...
NM_001369394.2:c.821_*557del NP_001356323.1:n.[c.821_*557del;His274Leu...
NM_001386137.1:c.431_*557del NP_001373066.1:n.[c.431_*557del;His144Leu...
NM_001386138.1:c.431_*557del NP_001373067.1:n.[c.431_*557del;His144Leu...
NM_001386139.1:c.431_*557del NP_001373068.1:n.[c.431_*557del;His144Leu...
NM_004992.4:c.1100_*557del MANE Plus Clinical NP_004983.1:n.[c.1100_*557del;His367Leufs...