Canonical Allele Identifier: CA270304
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143508
ClinVar RCV Id: RCV000133039
dbSNP Id: rs267608443

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032345dup , CM000685.2:g.154032345dup GRCh38
NC_000023.10:g.153297796dup , CM000685.1:g.153297796dup GRCh37
NC_000023.9:g.152950990dup NCBI36
NG_007107.2:g.109787dup

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.279dup VV NP_001104262.1:p.Lys94GlnfsTer9
NM_001316337.1:c.-37dup VV NP_001303266.1:p.=
NM_004992.3:c.243dup VV NP_004983.1:p.Lys82GlnfsTer9
XM_005274681.3:c.243dup XP_005274738.1:p.Lys82GlnfsTer9
XM_005274682.3:c.-37dup XP_005274739.1:p.=
XM_005274683.3:c.-37dup XP_005274740.1:p.=
XM_011531166.1:c.-37dup XP_011529468.1:p.=
XM_006724819.3:c.-318dup XP_006724882.1:p.=
XM_011531166.2:c.-37dup XP_011529468.1:p.=
XM_024452383.1:c.-37dup XP_024308151.1:p.=
XM_024452384.1:c.-37dup XP_024308152.1:p.=
ENST00000303391.10:c.243dup ENSP00000301948.6:p.Lys82GlnfsTer9
ENST00000369957.5:c.*297dup ENSP00000358973.4:p.=
ENST00000407218.5:c.279dup ENSP00000384865.2:p.Lys94GlnfsTer9
ENST00000453960.6:c.279dup ENSP00000395535.2:p.Lys94GlnfsTer9
ENST00000486506.5:n.2591dup
ENST00000611468.1:c.231dup ENSP00000479736.1:p.Lys78GlnfsTer9
ENST00000619732.4:c.243dup ENSP00000480973.1:p.Lys82GlnfsTer9
ENST00000622433.4:c.231dup ENSP00000484470.1:p.Lys78GlnfsTer9
ENST00000628176.2:c.243dup ENSP00000486978.1:p.Lys82GlnfsTer9