Canonical Allele Identifier: CA274554

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189644
• ClinVar RCV Id: RCV000170127
• MyVariant Identifiers: chrX:g.153293294_153296201del (hg19) ; chrX:g.154027843_154030750del (hg38)
• PubMed: PMID:16473305

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154027844_154030751del , CM000685.2:g.154027844_154030751del	GRCh38
NC_000023.10:g.153293295_153296202del , CM000685.1:g.153293295_153296202del	GRCh37
NC_000023.9:g.152946489_152949396del	NCBI36
NG_007107.3:g.111354_114261del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1078_*2524del MANE Plus Clinical	ENSP00000301948.6:n.[c.1078_*2524del;Ser3...
ENST00000453960.7:c.1114_*2524del MANE Select	ENSP00000395535.2:n.[c.1114_*2524del;Ser3...
ENST00000303391.10:c.1078_*2524del	ENSP00000301948.6:n.[c.1078_*2524del;Ser3...
ENST00000619732.4:c.1078_*2451del
XM_006724819.3:c.409_*2524del	XP_006724882.1:n.[c.409_*2524del;Ser137Le...
XM_011531166.2:c.799_*2524del	XP_011529468.1:n.[c.799_*2524del;Ser267Le...
XM_024452383.1:c.799_*2524del	XP_024308151.1:n.[c.799_*2524del;Ser267Le...
XM_024452384.1:c.799_*2524del	XP_024308152.1:n.[c.799_*2524del;Ser267Le...
NM_001110792.2:c.1114_*2524del MANE Select	NP_001104262.1:n.[c.1114_*2524del;Ser372L...
NM_001316337.2:c.799_*2524del	NP_001303266.1:n.[c.799_*2524del;Ser267Le...
NM_001369391.2:c.799_*2524del	NP_001356320.1:n.[c.799_*2524del;Ser267Le...
NM_001369392.2:c.799_*2524del	NP_001356321.1:n.[c.799_*2524del;Ser267Le...
NM_001369393.2:c.799_*2524del	NP_001356322.1:n.[c.799_*2524del;Ser267Le...
NM_001369394.2:c.799_*2524del	NP_001356323.1:n.[c.799_*2524del;Ser267Le...
NM_001386137.1:c.409_*2524del	NP_001373066.1:n.[c.409_*2524del;Ser137Le...
NM_001386138.1:c.409_*2524del	NP_001373067.1:n.[c.409_*2524del;Ser137Le...
NM_001386139.1:c.409_*2524del	NP_001373068.1:n.[c.409_*2524del;Ser137Le...
NM_004992.4:c.1078_*2524del MANE Plus Clinical	NP_004983.1:n.[c.1078_*2524del;Ser360Leuf...