Canonical Allele Identifier: CA270504

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143662
• ClinVar RCV Id: RCV000133203 ; RCV001385710 ; RCV003137641
• dbSNP Id: rs63260260
• MyVariant Identifiers: chrX:g.153296584del (hg19) ; chrX:g.154031133del (hg38)
• PubMed: PMID:10991688 ; PMID:11738864 ; PMID:15057977 ; PMID:15737703

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031137del , CM000685.2:g.154031137del	GRCh38
NC_000023.10:g.153296588del , CM000685.1:g.153296588del	GRCh37
NC_000023.9:g.152949782del	NCBI36
NG_007107.2:g.110995del
NG_007107.3:g.110971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.695del MANE Plus Clinical	ENSP00000301948.6:p.Gly232AlafsTer16
ENST00000453960.7:c.731del MANE Select	ENSP00000395535.2:p.Gly244AlafsTer16
ENST00000637917.1:c.66-197del
ENST00000303391.10:c.695del	ENSP00000301948.6:p.Gly232AlafsTer16
ENST00000407218.5:c.*67del	ENSP00000384865.2:n.*67del
ENST00000453960.6:c.731del	ENSP00000395535.2:p.Gly244AlafsTer16
ENST00000619732.4:c.695del	ENSP00000480973.1:p.Gly232AlafsTer16
ENST00000622433.4:c.683del	ENSP00000484470.1:p.Gly228AlafsTer16
ENST00000628176.2:c.*67del	ENSP00000486978.1:n.*67del
NM_001110792.1:c.731del	NP_001104262.1:p.Gly244AlafsTer16
NM_001316337.1:c.416del	NP_001303266.1:p.Gly139AlafsTer16
NM_004992.3:c.695del	NP_004983.1:p.Gly232AlafsTer16
XM_005274681.3:c.695del	XP_005274738.1:p.Gly232AlafsTer16
XM_005274682.3:c.416del	XP_005274739.1:p.Gly139AlafsTer16
XM_005274683.3:c.416del	XP_005274740.1:p.Gly139AlafsTer16
XM_006724819.2:c.26del	XP_006724882.1:p.Gly9AlafsTer16
XM_011531166.1:c.416del	XP_011529468.1:p.Gly139AlafsTer16
XM_006724819.3:c.26del	XP_006724882.1:p.Gly9AlafsTer16
XM_011531166.2:c.416del	XP_011529468.1:p.Gly139AlafsTer16
XM_024452383.1:c.416del	XP_024308151.1:p.Gly139AlafsTer16
XM_024452384.1:c.416del	XP_024308152.1:p.Gly139AlafsTer16
NM_001110792.2:c.731del MANE Select	NP_001104262.1:p.Gly244AlafsTer16
NM_001316337.2:c.416del	NP_001303266.1:p.Gly139AlafsTer16
NM_001369391.2:c.416del	NP_001356320.1:p.Gly139AlafsTer16
NM_001369392.2:c.416del	NP_001356321.1:p.Gly139AlafsTer16
NM_001369393.2:c.416del	NP_001356322.1:p.Gly139AlafsTer16
NM_001369394.1:c.416del	NP_001356323.1:p.Gly139AlafsTer16
NM_001369394.2:c.416del	NP_001356323.1:p.Gly139AlafsTer16
NM_001386137.1:c.26del	NP_001373066.1:p.Gly9AlafsTer16
NM_001386138.1:c.26del	NP_001373067.1:p.Gly9AlafsTer16
NM_001386139.1:c.26del	NP_001373068.1:p.Gly9AlafsTer16
NM_004992.4:c.695del MANE Plus Clinical	NP_004983.1:p.Gly232AlafsTer16