Canonical Allele Identifier: CA274579

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189694
• ClinVar RCV Id: RCV000170181
• MyVariant Identifiers: chrX:g.153296095_153301936del (hg19) ; chrX:g.154030644_154036485del (hg38)
• PubMed: PMID:14974082

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030646_154036487del , CM000685.2:g.154030646_154036487del	GRCh38
NC_000023.10:g.153296097_153301938del , CM000685.1:g.153296097_153301938del	GRCh37
NC_000023.9:g.152949291_152955132del	NCBI36
NG_007107.2:g.105643_111484del
NG_007107.3:g.105619_111460del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.27-3928_1184del
ENST00000453960.7:c.63-3928_1220del
ENST00000303391.10:c.27-3928_1184del
ENST00000407218.5:c.63-3928_*556del
ENST00000453960.6:c.63-3928_1220del
ENST00000619732.4:c.27-3928_1184del
ENST00000628176.2:c.27-3928_*556del
NM_001110792.1:c.63-3928_1220del
NM_001316337.1:c.-253-3928_905del
NM_004992.3:c.27-3928_1184del
XM_005274681.3:c.27-3928_1184del
XM_005274682.3:c.-254+3307_905del
XM_005274683.3:c.-253-3928_905del
XM_011531166.1:c.-253-3928_905del
XM_006724819.3:c.-535+3307_515del
XM_011531166.2:c.-253-3928_905del
XM_024452383.1:c.-253-3928_905del
XM_024452384.1:c.-254+3307_905del
NM_001110792.2:c.63-3928_1220del
NM_001316337.2:c.-253-3928_905del
NM_001369391.2:c.-253-3928_905del
NM_001369392.2:c.-254+3307_905del
NM_001369393.2:c.-254+3307_905del
NM_001369394.1:c.-253-3928_905del
NM_001369394.2:c.-253-3928_905del
NM_001386137.1:c.-535+3307_515del
NM_001386138.1:c.-534-3928_515del
NM_001386139.1:c.-534-3928_515del
NM_004992.4:c.27-3928_1184del