Canonical Allele Identifier: CA270288
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143481
ClinVar RCV Id: RCV000133012
dbSNP Id: rs267608637

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030358_154030381del , CM000685.2:g.154030358_154030381del GRCh38
NC_000023.10:g.153295809_153295832del , CM000685.1:g.153295809_153295832del GRCh37
NC_000023.9:g.152949003_152949026del NCBI36
NG_007107.2:g.111750_111773del
NG_007107.3:g.111726_111749del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.1450_*12del MANE Plus Clinical ENSP00000301948.6:n.[c.1450_*12del;Val485...
ENST00000453960.7:c.1486_*12del MANE Select ENSP00000395535.2:n.[c.1486_*12del;Val497...
ENST00000303391.10:c.1450_*12del ENSP00000301948.6:n.[c.1450_*12del;Val485...
ENST00000453960.6:c.1486_*12del ENSP00000395535.2:n.[c.1486_*12del;Val497...
ENST00000619732.4:c.1449+1_1469del
ENST00000628176.2:c.*822_*845del ENSP00000486978.1:n.*822_*845del
NM_001110792.1:c.1486_*12del NP_001104262.1:n.[c.1486_*12del;Val497Ile...
NM_001316337.1:c.1171_*12del NP_001303266.1:n.[c.1171_*12del;Val392Ile...
NM_004992.3:c.1450_*12del NP_004983.1:n.[c.1450_*12del;Val485IlefsT...
XM_005274681.3:c.1450_*12del XP_005274738.1:n.[c.1450_*12del;Val485Ile...
XM_005274682.3:c.1171_*12del XP_005274739.1:n.[c.1171_*12del;Val392Ile...
XM_005274683.3:c.1171_*12del XP_005274740.1:n.[c.1171_*12del;Val392Ile...
XM_006724819.2:c.781_*12del XP_006724882.1:n.[c.781_*12del;Val262Ilef...
XM_011531166.1:c.1171_*12del XP_011529468.1:n.[c.1171_*12del;Val392Ile...
XM_006724819.3:c.781_*12del XP_006724882.1:n.[c.781_*12del;Val262Ilef...
XM_011531166.2:c.1171_*12del XP_011529468.1:n.[c.1171_*12del;Val392Ile...
XM_024452383.1:c.1171_*12del XP_024308151.1:n.[c.1171_*12del;Val392Ile...
XM_024452384.1:c.1171_*12del XP_024308152.1:n.[c.1171_*12del;Val392Ile...
NM_001110792.2:c.1486_*12del MANE Select NP_001104262.1:n.[c.1486_*12del;Val497Ile...
NM_001316337.2:c.1171_*12del NP_001303266.1:n.[c.1171_*12del;Val392Ile...
NM_001369391.2:c.1171_*12del NP_001356320.1:n.[c.1171_*12del;Val392Ile...
NM_001369392.2:c.1171_*12del NP_001356321.1:n.[c.1171_*12del;Val392Ile...
NM_001369393.2:c.1171_*12del NP_001356322.1:n.[c.1171_*12del;Val392Ile...
NM_001369394.1:c.1171_*12del NP_001356323.1:n.[c.1171_*12del;Val392Ile...
NM_001369394.2:c.1171_*12del NP_001356323.1:n.[c.1171_*12del;Val392Ile...
NM_001386137.1:c.781_*12del NP_001373066.1:n.[c.781_*12del;Val262Ilef...
NM_001386138.1:c.781_*12del NP_001373067.1:n.[c.781_*12del;Val262Ilef...
NM_001386139.1:c.781_*12del NP_001373068.1:n.[c.781_*12del;Val262Ilef...
NM_004992.4:c.1450_*12del MANE Plus Clinical NP_004983.1:n.[c.1450_*12del;Val485IlefsT...