Canonical Allele Identifier: CA270372
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143551
ClinVar RCV Id: RCV000133084
dbSNP Id: rs267608457

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032209del , CM000685.2:g.154032209del GRCh38
NC_000023.10:g.153297660del , CM000685.1:g.153297660del GRCh37
NC_000023.9:g.152950854del NCBI36
NG_007107.2:g.109919del
NG_007107.3:g.109895del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.375del MANE Plus Clinical ENSP00000301948.6:p.Asn126IlefsTer13
ENST00000453960.7:c.411del MANE Select ENSP00000395535.2:p.Asn138IlefsTer13
ENST00000637917.1:c.8del
ENST00000303391.10:c.375del ENSP00000301948.6:p.Asn126IlefsTer13
ENST00000369957.5:c.*429del ENSP00000358973.4:n.*429del
ENST00000407218.5:c.411del ENSP00000384865.2:p.Asn138IlefsTer13
ENST00000453960.6:c.411del ENSP00000395535.2:p.Asn138IlefsTer13
ENST00000486506.5:n.2723del
ENST00000611468.1:c.363del ENSP00000479736.1:p.Asn122IlefsTer13
ENST00000619732.4:c.375del ENSP00000480973.1:p.Asn126IlefsTer13
ENST00000622433.4:c.363del ENSP00000484470.1:p.Asn122IlefsTer13
ENST00000628176.2:c.375del ENSP00000486978.1:p.Asn126IlefsTer13
NM_001110792.1:c.411del NP_001104262.1:p.Asn138IlefsTer13
NM_001316337.1:c.96del NP_001303266.1:p.Asn33IlefsTer13
NM_004992.3:c.375del NP_004983.1:p.Asn126IlefsTer13
XM_005274681.3:c.375del XP_005274738.1:p.Asn126IlefsTer13
XM_005274682.3:c.96del XP_005274739.1:p.Asn33IlefsTer13
XM_005274683.3:c.96del XP_005274740.1:p.Asn33IlefsTer13
XM_006724819.2:c.-186del XP_006724882.1:n.-186del
XM_011531166.1:c.96del XP_011529468.1:p.Asn33IlefsTer13
XM_006724819.3:c.-186del XP_006724882.1:n.-186del
XM_011531166.2:c.96del XP_011529468.1:p.Asn33IlefsTer13
XM_024452383.1:c.96del XP_024308151.1:p.Asn33IlefsTer13
XM_024452384.1:c.96del XP_024308152.1:p.Asn33IlefsTer13
NM_001110792.2:c.411del MANE Select NP_001104262.1:p.Asn138IlefsTer13
NM_001316337.2:c.96del NP_001303266.1:p.Asn33IlefsTer13
NM_001369391.2:c.96del NP_001356320.1:p.Asn33IlefsTer13
NM_001369392.2:c.96del NP_001356321.1:p.Asn33IlefsTer13
NM_001369393.2:c.96del NP_001356322.1:p.Asn33IlefsTer13
NM_001369394.1:c.96del NP_001356323.1:p.Asn33IlefsTer13
NM_001369394.2:c.96del NP_001356323.1:p.Asn33IlefsTer13
NM_001386137.1:c.-186del NP_001373066.1:n.-186del
NM_001386138.1:c.-186del NP_001373067.1:n.-186del
NM_001386139.1:c.-186del NP_001373068.1:n.-186del
NM_004992.4:c.375del MANE Plus Clinical NP_004983.1:p.Asn126IlefsTer13