Canonical Allele Identifier: CA915952014

Gene: MECP2

Linked Data

• ClinVar Variation Id: 813730
• ClinVar RCV Id: RCV001004661

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154028067_154030775del , CM000685.2:g.154028067_154030775del	GRCh38
NC_000023.10:g.153293518_153296226del , CM000685.1:g.153293518_153296226del	GRCh37
NC_000023.9:g.152946712_152949420del	NCBI36
NG_007107.3:g.111329_114037del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1053_*2300del MANE Plus Clinical	ENSP00000301948.6:n.[c.1053_*2300del;Lys3...
ENST00000453960.7:c.1089_*2300del MANE Select	ENSP00000395535.2:n.[c.1089_*2300del;Lys3...
ENST00000303391.10:c.1053_*2300del	ENSP00000301948.6:n.[c.1053_*2300del;Lys3...
ENST00000619732.4:c.1053_*2227del
XM_006724819.3:c.384_*2300del	XP_006724882.1:n.[c.384_*2300del;Lys129Te...
XM_011531166.2:c.774_*2300del	XP_011529468.1:n.[c.774_*2300del;Lys259Te...
XM_024452383.1:c.774_*2300del	XP_024308151.1:n.[c.774_*2300del;Lys259Te...
XM_024452384.1:c.774_*2300del	XP_024308152.1:n.[c.774_*2300del;Lys259Te...
NM_001110792.2:c.1089_*2300del MANE Select	NP_001104262.1:n.[c.1089_*2300del;Lys364T...
NM_001316337.2:c.774_*2300del	NP_001303266.1:n.[c.774_*2300del;Lys259Te...
NM_001369391.2:c.774_*2300del	NP_001356320.1:n.[c.774_*2300del;Lys259Te...
NM_001369392.2:c.774_*2300del	NP_001356321.1:n.[c.774_*2300del;Lys259Te...
NM_001369393.2:c.774_*2300del	NP_001356322.1:n.[c.774_*2300del;Lys259Te...
NM_001369394.2:c.774_*2300del	NP_001356323.1:n.[c.774_*2300del;Lys259Te...
NM_001386137.1:c.384_*2300del	NP_001373066.1:n.[c.384_*2300del;Lys129Te...
NM_001386138.1:c.384_*2300del	NP_001373067.1:n.[c.384_*2300del;Lys129Te...
NM_001386139.1:c.384_*2300del	NP_001373068.1:n.[c.384_*2300del;Lys129Te...
NM_004992.4:c.1053_*2300del MANE Plus Clinical	NP_004983.1:n.[c.1053_*2300del;Lys352Ter]...