Canonical Allele Identifier: CA16043235
Gene: MECP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373717
ClinVar RCV Id: RCV000413774
dbSNP Id: rs1057518568

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031014del , CM000685.2:g.154031014del GRCh38
NC_000023.9:g.152949659del NCBI36
NC_000023.10:g.153296465del , CM000685.1:g.153296465del GRCh37
NG_007107.2:g.111115del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.10:c.815del ENSP00000301948.6:p.Pro272ArgfsTer17
ENST00000407218.5:c.*187del ENSP00000384865.2:p.=
ENST00000453960.6:c.851del ENSP00000395535.2:p.Pro284ArgfsTer17
ENST00000619732.4:c.815del ENSP00000480973.1:p.Pro272ArgfsTer17
ENST00000622433.4:c.803del ENSP00000484470.1:p.Pro268ArgfsTer17
ENST00000628176.2:c.*187del ENSP00000486978.1:p.=
NM_001110792.1:c.851del VV NP_001104262.1:p.Pro284ArgfsTer17
NM_001316337.1:c.536del VV NP_001303266.1:p.Pro179ArgfsTer17
NM_004992.3:c.815del VV NP_004983.1:p.Pro272ArgfsTer17
XM_005274681.3:c.815del XP_005274738.1:p.Pro272ArgfsTer17
XM_005274682.3:c.536del XP_005274739.1:p.Pro179ArgfsTer17
XM_005274683.3:c.536del XP_005274740.1:p.Pro179ArgfsTer17
XM_006724819.2:c.146del XP_006724882.1:p.Pro49ArgfsTer17
XM_011531166.1:c.536del XP_011529468.1:p.Pro179ArgfsTer17
XM_006724819.3:c.146del
XM_011531166.2:c.536del
XM_024452383.1:c.536del XP_024308151.1:p.Pro179ArgfsTer17
XM_024452384.1:c.536del XP_024308152.1:p.Pro179ArgfsTer17