Canonical Allele Identifier: CA891863116
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375544
ClinVar RCV Id: RCV000417025

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031347_154035447del , CM000685.2:g.154031347_154035447del GRCh38
NC_000023.10:g.153296798_153300898del , CM000685.1:g.153296798_153300898del GRCh37
NC_000023.9:g.152949992_152954092del NCBI36
NG_007107.2:g.106681_110781del
NG_007107.3:g.106657_110757del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.27-2890_481del
ENST00000453960.7:c.63-2890_517del
ENST00000303391.10:c.27-2890_481del
ENST00000407218.5:c.63-2890_468+49del
ENST00000453960.6:c.63-2890_517del
ENST00000486506.5:n.2375-2890_2829del
ENST00000611468.1:c.15-2890_469del
ENST00000619732.4:c.27-2890_481del
ENST00000622433.4:c.15-2890_469del
ENST00000628176.2:c.27-2890_432+49del
NM_001110792.1:c.63-2890_517del
NM_001316337.1:c.-253-2890_202del
NM_004992.3:c.27-2890_481del
XM_005274681.3:c.27-2890_481del
XM_005274682.3:c.-253-2890_202del
XM_005274683.3:c.-253-2890_202del
XM_011531166.1:c.-253-2890_202del
XM_006724819.3:c.-534-2890_-129+49del
XM_011531166.2:c.-253-2890_202del
XM_024452383.1:c.-253-2890_202del
XM_024452384.1:c.-253-2890_202del
NM_001110792.2:c.63-2890_517del
NM_001316337.2:c.-253-2890_202del
NM_001369391.2:c.-253-2890_202del
NM_001369392.2:c.-253-2890_202del
NM_001369393.2:c.-253-2890_202del
NM_001369394.1:c.-253-2890_202del
NM_001369394.2:c.-253-2890_202del
NM_001386137.1:c.-534-2890_-129+49del
NM_001386138.1:c.-534-2890_-129+49del
NM_001386139.1:c.-534-2890_-129+49del
NM_004992.4:c.27-2890_481del