Canonical Allele Identifier: CA2580101831
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2227433
ClinVar RCV Id: RCV002702369

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154029065_154030675delinsCGGGA , CM000685.2:g.154029065_154030675delinsCGGGA GRCh38
NC_000023.10:g.153294516_153296126delinsCGGGA , CM000685.1:g.153294516_153296126delinsCGGGA GRCh37
NC_000023.9:g.152947710_152949320delinsCGGGA NCBI36
NG_007107.3:g.111429_113039delinsTCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.1153_*1302delinsTCCCG MANE Plus Clinical ENSP00000301948.6:n.[c.1153_*1302delinsTCCCG;Pro385SerfsTer?]...
ENST00000453960.7:c.1189_*1302delinsTCCCG MANE Select ENSP00000395535.2:n.[c.1189_*1302delinsTCCCG;Pro397SerfsTer?]...
ENST00000303391.10:c.1153_*1302delinsTCCCG ENSP00000301948.6:n.[c.1153_*1302delinsTCCCG;Pro385SerfsTer?]...
ENST00000619732.4:c.1153_*1229delinsTCCCG
XM_005274681.3:c.1153_*1302delinsTCCCG XP_005274738.1:n.[c.1153_*1302delinsTCCCG;Pro385SerfsTer?]
XM_005274682.3:c.874_*1302delinsTCCCG XP_005274739.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
XM_005274683.3:c.874_*1302delinsTCCCG XP_005274740.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
XM_006724819.2:c.484_*1302delinsTCCCG XP_006724882.1:n.[c.484_*1302delinsTCCCG;Pro162SerfsTer?]
XM_011531166.1:c.874_*1302delinsTCCCG XP_011529468.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
XM_006724819.3:c.484_*1302delinsTCCCG XP_006724882.1:n.[c.484_*1302delinsTCCCG;Pro162SerfsTer?]
XM_011531166.2:c.874_*1302delinsTCCCG XP_011529468.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
XM_024452383.1:c.874_*1302delinsTCCCG XP_024308151.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
XM_024452384.1:c.874_*1302delinsTCCCG XP_024308152.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
NM_001110792.2:c.1189_*1302delinsTCCCG MANE Select NP_001104262.1:n.[c.1189_*1302delinsTCCCG;Pro397SerfsTer?]
NM_001316337.2:c.874_*1302delinsTCCCG NP_001303266.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
NM_001369391.2:c.874_*1302delinsTCCCG NP_001356320.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
NM_001369392.2:c.874_*1302delinsTCCCG NP_001356321.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
NM_001369393.2:c.874_*1302delinsTCCCG NP_001356322.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
NM_001369394.2:c.874_*1302delinsTCCCG NP_001356323.1:n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]
NM_001386137.1:c.484_*1302delinsTCCCG NP_001373066.1:n.[c.484_*1302delinsTCCCG;Pro162SerfsTer?]
NM_001386138.1:c.484_*1302delinsTCCCG NP_001373067.1:n.[c.484_*1302delinsTCCCG;Pro162SerfsTer?]
NM_001386139.1:c.484_*1302delinsTCCCG NP_001373068.1:n.[c.484_*1302delinsTCCCG;Pro162SerfsTer?]
NM_004992.4:c.1153_*1302delinsTCCCG MANE Plus Clinical NP_004983.1:n.[c.1153_*1302delinsTCCCG;Pro385SerfsTer?]