Canonical Allele Identifier: CA235624

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189722
• ClinVar RCV Id: RCV000170217
• dbSNP Id: rs1557134716
• MyVariant Identifiers: chrX:g.153295693_153296472del (hg19) ; chrX:g.154030242_154031021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030242_154031021del , CM000685.2:g.154030242_154031021del	GRCh38
NC_000023.10:g.153295693_153296472del , CM000685.1:g.153295693_153296472del	GRCh37
NC_000023.9:g.152948887_152949666del	NCBI36
NG_007107.2:g.111107_111886del
NG_007107.3:g.111083_111862del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.807_*125del MANE Plus Clinical	ENSP00000301948.6:n.[c.807_*125del;Arg270...
ENST00000453960.7:c.843_*125del MANE Select	ENSP00000395535.2:n.[c.843_*125del;Arg282...
ENST00000303391.10:c.807_*125del	ENSP00000301948.6:n.[c.807_*125del;Arg270...
ENST00000453960.6:c.843_*125del	ENSP00000395535.2:n.[c.843_*125del;Arg282...
ENST00000619732.4:c.807_*52del
ENST00000628176.2:c.*179_*958del	ENSP00000486978.1:n.*179_*958del
NM_001110792.1:c.843_*125del	NP_001104262.1:n.[c.843_*125del;Arg282Gln...
NM_001316337.1:c.528_*125del	NP_001303266.1:n.[c.528_*125del;Arg177Gln...
NM_004992.3:c.807_*125del	NP_004983.1:n.[c.807_*125del;Arg270GlnfsT...
XM_005274681.3:c.807_*125del	XP_005274738.1:n.[c.807_*125del;Arg270Gln...
XM_005274682.3:c.528_*125del	XP_005274739.1:n.[c.528_*125del;Arg177Gln...
XM_005274683.3:c.528_*125del	XP_005274740.1:n.[c.528_*125del;Arg177Gln...
XM_006724819.2:c.138_*125del	XP_006724882.1:n.[c.138_*125del;Arg47Glnf...
XM_011531166.1:c.528_*125del	XP_011529468.1:n.[c.528_*125del;Arg177Gln...
XM_006724819.3:c.138_*125del	XP_006724882.1:n.[c.138_*125del;Arg47Glnf...
XM_011531166.2:c.528_*125del	XP_011529468.1:n.[c.528_*125del;Arg177Gln...
XM_024452383.1:c.528_*125del	XP_024308151.1:n.[c.528_*125del;Arg177Gln...
XM_024452384.1:c.528_*125del	XP_024308152.1:n.[c.528_*125del;Arg177Gln...
NM_001110792.2:c.843_*125del MANE Select	NP_001104262.1:n.[c.843_*125del;Arg282Gln...
NM_001316337.2:c.528_*125del	NP_001303266.1:n.[c.528_*125del;Arg177Gln...
NM_001369391.2:c.528_*125del	NP_001356320.1:n.[c.528_*125del;Arg177Gln...
NM_001369392.2:c.528_*125del	NP_001356321.1:n.[c.528_*125del;Arg177Gln...
NM_001369393.2:c.528_*125del	NP_001356322.1:n.[c.528_*125del;Arg177Gln...
NM_001369394.1:c.528_*125del	NP_001356323.1:n.[c.528_*125del;Arg177Gln...
NM_001369394.2:c.528_*125del	NP_001356323.1:n.[c.528_*125del;Arg177Gln...
NM_001386137.1:c.138_*125del	NP_001373066.1:n.[c.138_*125del;Arg47Glnf...
NM_001386138.1:c.138_*125del	NP_001373067.1:n.[c.138_*125del;Arg47Glnf...
NM_001386139.1:c.138_*125del	NP_001373068.1:n.[c.138_*125del;Arg47Glnf...
NM_004992.4:c.807_*125del MANE Plus Clinical	NP_004983.1:n.[c.807_*125del;Arg270GlnfsT...