Canonical Allele Identifier: CA270325
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143521
ClinVar RCV Id: RCV000133052
dbSNP Id: rs267608449

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032289_154032291del , CM000685.2:g.154032289_154032291del GRCh38
NC_000023.10:g.153297740_153297742del , CM000685.1:g.153297740_153297742del GRCh37
NC_000023.9:g.152950934_152950936del NCBI36
NG_007107.2:g.109839_109841del

Transcript Alleles

HGVS Amino-acid change
NM_001110792.1:c.331_333del VV NP_001104262.1:p.Thr111del
NM_001316337.1:c.16_18del VV NP_001303266.1:p.Thr6del
NM_004992.3:c.295_297del VV NP_004983.1:p.Thr99del
XM_005274681.3:c.295_297del XP_005274738.1:p.Thr99del
XM_005274682.3:c.16_18del XP_005274739.1:p.Thr6del
XM_005274683.3:c.16_18del XP_005274740.1:p.Thr6del
XM_011531166.1:c.16_18del XP_011529468.1:p.Thr6del
XM_006724819.3:c.-266_-264del XP_006724882.1:p.=
XM_011531166.2:c.16_18del XP_011529468.1:p.Thr6del
XM_024452383.1:c.16_18del XP_024308151.1:p.Thr6del
XM_024452384.1:c.16_18del XP_024308152.1:p.Thr6del
ENST00000303391.10:c.295_297del ENSP00000301948.6:p.Thr99del
ENST00000369957.5:c.*349_*351del ENSP00000358973.4:p.=
ENST00000407218.5:c.331_333del ENSP00000384865.2:p.Thr111del
ENST00000453960.6:c.331_333del ENSP00000395535.2:p.Thr111del
ENST00000486506.5:n.2643_2645del
ENST00000611468.1:c.283_285del ENSP00000479736.1:p.Thr95del
ENST00000619732.4:c.295_297del ENSP00000480973.1:p.Thr99del
ENST00000622433.4:c.283_285del ENSP00000484470.1:p.Thr95del
ENST00000628176.2:c.295_297del ENSP00000486978.1:p.Thr99del