Canonical Allele Identifier: CA199507
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 189769
ClinVar RCV Id: RCV000170287 RCV003380502
dbSNP Id: rs782107551
gnomAD v2: X-153363166-AGC-A
gnomAD v4: X-154097709-AGC-A
MyVariant Identifiers: chrX:g.153363167_153363168del (hg19) chrX:g.154097710_154097711del (hg38)
PubMed: PMID:17171659
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154097718_154097719del , CM000685.2:g.154097718_154097719del GRCh38
NC_000023.10:g.153363175_153363176del , CM000685.1:g.153363175_153363176del GRCh37
NC_000023.9:g.153016369_153016370del NCBI36
NG_007107.2:g.44411_44412del
NG_007107.3:g.44393_44394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.10:c.-206_-205del ENSP00000301948.6:n.-206_-205del
ENST00000453960.6:c.-46_-45del ENSP00000395535.2:n.-46_-45del
ENST00000619732.4:c.-206_-205del ENSP00000480973.1:n.-206_-205del
ENST00000628176.2:c.-206_-205del ENSP00000486978.1:n.-206_-205del
ENST00000631210.1:n.305+7070_305+7071del
NM_001110792.1:c.-46_-45del NP_001104262.1:n.-46_-45del
NM_001316337.1:c.-653_-652del NP_001303266.1:n.-653_-652del
NM_004992.3:c.-206_-205del NP_004983.1:n.-206_-205del
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