Canonical Allele Identifier: CA212519

Gene: MECP2

Linked Data

• ClinVar Variation Id: 156063
• ClinVar RCV Id: RCV000144110 ; RCV000202549 ; RCV000168682 ; RCV002055862 ; RCV002362776
• dbSNP Id: rs61753982
• ExAC: X:153296917 GA / G
• gnomAD v2: X-153296917-GA-G
• gnomAD v3: X-154031466-GA-G
• gnomAD v4: X-154031466-GA-G
• COSMIC: COSN2526339
• MyVariant Identifiers: chrX:g.153296918del (hg19) ; chrX:g.153296918delA (hg19) ; chrX:g.154031468del (hg38) ; chrX:g.154031467del (hg38)
• PubMed: PMID:10991689 ; PMID:11241840 ; PMID:11469283 ; PMID:12384770 ; PMID:12707062 ; PMID:15211631 ; PMID:15578581 ; PMID:16376510 ; PMID:16763963 ; PMID:16879196 ; PMID:17383248 ; PMID:17387578 ; PMID:17427193 ; PMID:20031356 ; PMID:23810759

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031469del , CM000685.2:g.154031469del	GRCh38
NC_000023.10:g.153296920del , CM000685.1:g.153296920del	GRCh37
NC_000023.9:g.152950114del	NCBI36
NG_007107.2:g.110661del
NG_007107.3:g.110637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.378-17del MANE Plus Clinical	ENSP00000301948.6:n.378-17del
ENST00000453960.7:c.414-17del MANE Select	ENSP00000395535.2:n.414-17del
ENST00000637917.1:c.11-17del
ENST00000303391.10:c.378-17del	ENSP00000301948.6:n.378-17del
ENST00000369957.5:c.*432-17del	ENSP00000358973.4:n.*432-17del
ENST00000407218.5:c.414-17del	ENSP00000384865.2:n.414-17del
ENST00000453960.6:c.414-17del	ENSP00000395535.2:n.414-17del
ENST00000486506.5:n.2726-17del
ENST00000611468.1:c.366-17del	ENSP00000479736.1:n.366-17del
ENST00000619732.4:c.378-17del	ENSP00000480973.1:n.378-17del
ENST00000622433.4:c.366-17del	ENSP00000484470.1:n.366-17del
ENST00000628176.2:c.378-17del	ENSP00000486978.1:n.378-17del
NM_001110792.1:c.414-17del	NP_001104262.1:n.414-17del
NM_001316337.1:c.99-17del	NP_001303266.1:n.99-17del
NM_004992.3:c.378-17del	NP_004983.1:n.378-17del
XM_005274681.3:c.378-17del	XP_005274738.1:n.378-17del
XM_005274682.3:c.99-17del	XP_005274739.1:n.99-17del
XM_005274683.3:c.99-17del	XP_005274740.1:n.99-17del
XM_006724819.2:c.-183-17del	XP_006724882.1:n.-183-17del
XM_011531166.1:c.99-17del	XP_011529468.1:n.99-17del
XM_006724819.3:c.-183-17del	XP_006724882.1:n.-183-17del
XM_011531166.2:c.99-17del	XP_011529468.1:n.99-17del
XM_024452383.1:c.99-17del	XP_024308151.1:n.99-17del
XM_024452384.1:c.99-17del	XP_024308152.1:n.99-17del
NM_001110792.2:c.414-17del MANE Select	NP_001104262.1:n.414-17del
NM_001316337.2:c.99-17del	NP_001303266.1:n.99-17del
NM_001369391.2:c.99-17del	NP_001356320.1:n.99-17del
NM_001369392.2:c.99-17del	NP_001356321.1:n.99-17del
NM_001369393.2:c.99-17del	NP_001356322.1:n.99-17del
NM_001369394.1:c.99-17del	NP_001356323.1:n.99-17del
NM_001369394.2:c.99-17del	NP_001356323.1:n.99-17del
NM_001386137.1:c.-183-17del	NP_001373066.1:n.-183-17del
NM_001386138.1:c.-183-17del	NP_001373067.1:n.-183-17del
NM_001386139.1:c.-183-17del	NP_001373068.1:n.-183-17del
NM_004992.4:c.378-17del MANE Plus Clinical	NP_004983.1:n.378-17del