Canonical Allele Identifier: CA1139667867

Gene: MECP2

Linked Data

• ClinVar Variation Id: 986950
• ClinVar RCV Id: RCV001268134
• dbSNP Id: rs2065899494

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030358_154030377del , CM000685.2:g.154030358_154030377del	GRCh38
NC_000023.10:g.153295809_153295828del , CM000685.1:g.153295809_153295828del	GRCh37
NC_000023.9:g.152949003_152949022del	NCBI36
NG_007107.2:g.111754_111773del
NG_007107.3:g.111730_111749del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1454_*12del MANE Plus Clinical	ENSP00000301948.6:n.[c.1454_*12del;Val485...
ENST00000453960.7:c.1490_*12del MANE Select	ENSP00000395535.2:n.[c.1490_*12del;Val497...
ENST00000303391.10:c.1454_*12del	ENSP00000301948.6:n.[c.1454_*12del;Val485...
ENST00000453960.6:c.1490_*12del	ENSP00000395535.2:n.[c.1490_*12del;Val497...
ENST00000619732.4:c.1450_1469del
ENST00000628176.2:c.*826_*845del	ENSP00000486978.1:n.*826_*845del
NM_001110792.1:c.1490_*12del	NP_001104262.1:n.[c.1490_*12del;Val497Ala...
NM_001316337.1:c.1175_*12del	NP_001303266.1:n.[c.1175_*12del;Val392Ala...
NM_004992.3:c.1454_*12del	NP_004983.1:n.[c.1454_*12del;Val485AlafsT...
XM_005274681.3:c.1454_*12del	XP_005274738.1:n.[c.1454_*12del;Val485Ala...
XM_005274682.3:c.1175_*12del	XP_005274739.1:n.[c.1175_*12del;Val392Ala...
XM_005274683.3:c.1175_*12del	XP_005274740.1:n.[c.1175_*12del;Val392Ala...
XM_006724819.2:c.785_*12del	XP_006724882.1:n.[c.785_*12del;Val262Alaf...
XM_011531166.1:c.1175_*12del	XP_011529468.1:n.[c.1175_*12del;Val392Ala...
XM_006724819.3:c.785_*12del	XP_006724882.1:n.[c.785_*12del;Val262Alaf...
XM_011531166.2:c.1175_*12del	XP_011529468.1:n.[c.1175_*12del;Val392Ala...
XM_024452383.1:c.1175_*12del	XP_024308151.1:n.[c.1175_*12del;Val392Ala...
XM_024452384.1:c.1175_*12del	XP_024308152.1:n.[c.1175_*12del;Val392Ala...
NM_001110792.2:c.1490_*12del MANE Select	NP_001104262.1:n.[c.1490_*12del;Val497Ala...
NM_001316337.2:c.1175_*12del	NP_001303266.1:n.[c.1175_*12del;Val392Ala...
NM_001369391.2:c.1175_*12del	NP_001356320.1:n.[c.1175_*12del;Val392Ala...
NM_001369392.2:c.1175_*12del	NP_001356321.1:n.[c.1175_*12del;Val392Ala...
NM_001369393.2:c.1175_*12del	NP_001356322.1:n.[c.1175_*12del;Val392Ala...
NM_001369394.1:c.1175_*12del	NP_001356323.1:n.[c.1175_*12del;Val392Ala...
NM_001369394.2:c.1175_*12del	NP_001356323.1:n.[c.1175_*12del;Val392Ala...
NM_001386137.1:c.785_*12del	NP_001373066.1:n.[c.785_*12del;Val262Alaf...
NM_001386138.1:c.785_*12del	NP_001373067.1:n.[c.785_*12del;Val262Alaf...
NM_001386139.1:c.785_*12del	NP_001373068.1:n.[c.785_*12del;Val262Alaf...
NM_004992.4:c.1454_*12del MANE Plus Clinical	NP_004983.1:n.[c.1454_*12del;Val485AlafsT...