Canonical Allele Identifier: CA270267
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143436
ClinVar RCV Id: RCV000132962
dbSNP Id: rs267608614

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030626dup , CM000685.2:g.154030626dup GRCh38
NC_000023.9:g.152949271dup NCBI36
NC_000023.10:g.153296077dup , CM000685.1:g.153296077dup GRCh37
NG_007107.2:g.111502dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.10:c.1202dup ENSP00000301948.6:p.Ser401ArgfsTer4
ENST00000407218.5:c.*574dup ENSP00000384865.2:p.=
ENST00000453960.6:c.1238dup ENSP00000395535.2:p.Ser413ArgfsTer4
ENST00000619732.4:c.1202dup ENSP00000480973.1:p.Ser401ArgfsTer4
ENST00000628176.2:c.*574dup ENSP00000486978.1:p.=
NM_001110792.1:c.1238dup VV NP_001104262.1:p.Ser413ArgfsTer4
NM_001316337.1:c.923dup VV NP_001303266.1:p.Ser308ArgfsTer4
NM_004992.3:c.1202dup VV NP_004983.1:p.Ser401ArgfsTer4
XM_005274681.3:c.1202dup XP_005274738.1:p.Ser401ArgfsTer4
XM_005274682.3:c.923dup XP_005274739.1:p.Ser308ArgfsTer4
XM_005274683.3:c.923dup XP_005274740.1:p.Ser308ArgfsTer4
XM_006724819.2:c.533dup XP_006724882.1:p.Ser178ArgfsTer4
XM_011531166.1:c.923dup XP_011529468.1:p.Ser308ArgfsTer4
XM_006724819.3:c.533dup
XM_011531166.2:c.923dup
XM_024452383.1:c.923dup XP_024308151.1:p.Ser308ArgfsTer4
XM_024452384.1:c.923dup XP_024308152.1:p.Ser308ArgfsTer4