Canonical Allele Identifier: CA274584

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189700
• ClinVar RCV Id: RCV000170188
• MyVariant Identifiers: chrX:g.153296074_153298104del (hg19) ; chrX:g.154030623_154032653del (hg38)
• PubMed: PMID:14974082

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030623_154032653del , CM000685.2:g.154030623_154032653del	GRCh38
NC_000023.10:g.153296074_153298104del , CM000685.1:g.153296074_153298104del	GRCh37
NC_000023.9:g.152949268_152951298del	NCBI36
NG_007107.2:g.109477_111507del
NG_007107.3:g.109453_111483del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.27-94_1207del
ENST00000453960.7:c.63-94_1243del
ENST00000303391.10:c.27-94_1207del
ENST00000407218.5:c.63-94_*579del
ENST00000453960.6:c.63-94_1243del
ENST00000619732.4:c.27-94_1207del
ENST00000628176.2:c.27-94_*579del
NM_001110792.1:c.63-94_1243del
NM_001316337.1:c.-253-94_928del
NM_004992.3:c.27-94_1207del
XM_005274681.3:c.27-94_1207del
XM_005274682.3:c.-253-94_928del
XM_005274683.3:c.-253-94_928del
XM_011531166.1:c.-253-94_928del
XM_006724819.3:c.-534-94_538del
XM_011531166.2:c.-253-94_928del
XM_024452383.1:c.-253-94_928del
XM_024452384.1:c.-253-94_928del
NM_001110792.2:c.63-94_1243del
NM_001316337.2:c.-253-94_928del
NM_001369391.2:c.-253-94_928del
NM_001369392.2:c.-253-94_928del
NM_001369393.2:c.-253-94_928del
NM_001369394.1:c.-253-94_928del
NM_001369394.2:c.-253-94_928del
NM_001386137.1:c.-534-94_538del
NM_001386138.1:c.-534-94_538del
NM_001386139.1:c.-534-94_538del
NM_004992.4:c.27-94_1207del