Canonical Allele Identifier: CA2697544637

Gene: MECP2

Linked Data

• ClinVar Variation Id: 2704664
• ClinVar RCV Id: RCV003524072

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154029791_154030631del , CM000685.2:g.154029791_154030631del	GRCh38
NC_000023.10:g.153295242_153296082del , CM000685.1:g.153295242_153296082del	GRCh37
NC_000023.9:g.152948436_152949276del	NCBI36
NG_007107.2:g.111507_112347del
NG_007107.3:g.111483_112323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1207_*586del MANE Plus Clinical	ENSP00000301948.6:n.[c.1207_*586del;Pro403AsnfsTer?]
ENST00000453960.7:c.1243_*586del MANE Select	ENSP00000395535.2:n.[c.1243_*586del;Pro415AsnfsTer?]
ENST00000303391.10:c.1207_*586del	ENSP00000301948.6:n.[c.1207_*586del;Pro403AsnfsTer?]
ENST00000619732.4:c.1207_*513del
NM_004992.3:c.1207_*586del	NP_004983.1:n.[c.1207_*586del;Pro403AsnfsTer?]
XM_005274681.3:c.1207_*586del	XP_005274738.1:n.[c.1207_*586del;Pro403AsnfsTer?]
XM_005274682.3:c.928_*586del	XP_005274739.1:n.[c.928_*586del;Pro310AsnfsTer?]
XM_005274683.3:c.928_*586del	XP_005274740.1:n.[c.928_*586del;Pro310AsnfsTer?]
XM_006724819.2:c.538_*586del	XP_006724882.1:n.[c.538_*586del;Pro180AsnfsTer?]
XM_011531166.1:c.928_*586del	XP_011529468.1:n.[c.928_*586del;Pro310AsnfsTer?]
XM_006724819.3:c.538_*586del	XP_006724882.1:n.[c.538_*586del;Pro180AsnfsTer?]
XM_011531166.2:c.928_*586del	XP_011529468.1:n.[c.928_*586del;Pro310AsnfsTer?]
XM_024452383.1:c.928_*586del	XP_024308151.1:n.[c.928_*586del;Pro310AsnfsTer?]
XM_024452384.1:c.928_*586del	XP_024308152.1:n.[c.928_*586del;Pro310AsnfsTer?]
NM_001110792.2:c.1243_*586del MANE Select	NP_001104262.1:n.[c.1243_*586del;Pro415AsnfsTer?]
NM_001316337.2:c.928_*586del	NP_001303266.1:n.[c.928_*586del;Pro310AsnfsTer?]
NM_001369391.2:c.928_*586del	NP_001356320.1:n.[c.928_*586del;Pro310AsnfsTer?]
NM_001369392.2:c.928_*586del	NP_001356321.1:n.[c.928_*586del;Pro310AsnfsTer?]
NM_001369393.2:c.928_*586del	NP_001356322.1:n.[c.928_*586del;Pro310AsnfsTer?]
NM_001369394.2:c.928_*586del	NP_001356323.1:n.[c.928_*586del;Pro310AsnfsTer?]
NM_001386137.1:c.538_*586del	NP_001373066.1:n.[c.538_*586del;Pro180AsnfsTer?]
NM_001386138.1:c.538_*586del	NP_001373067.1:n.[c.538_*586del;Pro180AsnfsTer?]
NM_001386139.1:c.538_*586del	NP_001373068.1:n.[c.538_*586del;Pro180AsnfsTer?]
NM_004992.4:c.1207_*586del MANE Plus Clinical	NP_004983.1:n.[c.1207_*586del;Pro403AsnfsTer?]