Canonical Allele Identifier: CA233153
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156069
dbSNP Id: rs267608466

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031452_154031460del , CM000685.2:g.154031452_154031460del GRCh38
NC_000023.10:g.153296903_153296911del , CM000685.1:g.153296903_153296911del GRCh37
NC_000023.9:g.152950097_152950105del NCBI36
NG_007107.2:g.110675_110683del
NG_007107.3:g.110651_110659del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.378-3_383del
ENST00000453960.7:c.414-3_419del
ENST00000637917.1:c.11-3_16del
ENST00000303391.10:c.378-3_383del
ENST00000369957.5:c.*432-3_*437del
ENST00000407218.5:c.414-3_419del
ENST00000453960.6:c.414-3_419del
ENST00000486506.5:n.2726-3_2731del
ENST00000611468.1:c.366-3_371del
ENST00000619732.4:c.378-3_383del
ENST00000622433.4:c.366-3_371del
ENST00000628176.2:c.378-3_383del
NM_001110792.1:c.414-3_419del
NM_001316337.1:c.99-3_104del
NM_004992.3:c.378-3_383del
XM_005274681.3:c.378-3_383del
XM_005274682.3:c.99-3_104del
XM_005274683.3:c.99-3_104del
XM_006724819.2:c.-183-3_-178del
XM_011531166.1:c.99-3_104del
XM_006724819.3:c.-183-3_-178del
XM_011531166.2:c.99-3_104del
XM_024452383.1:c.99-3_104del
XM_024452384.1:c.99-3_104del
NM_001110792.2:c.414-3_419del
NM_001316337.2:c.99-3_104del
NM_001369391.2:c.99-3_104del
NM_001369392.2:c.99-3_104del
NM_001369393.2:c.99-3_104del
NM_001369394.1:c.99-3_104del
NM_001369394.2:c.99-3_104del
NM_001386137.1:c.-183-3_-178del
NM_001386138.1:c.-183-3_-178del
NM_001386139.1:c.-183-3_-178del
NM_004992.4:c.378-3_383del