Canonical Allele Identifier: CA10558695

Gene: MECP2

Linked Data

• ClinVar Variation Id: 588643
• ClinVar RCV Id: RCV001712737 ; RCV002067029 ; RCV002313582 ; RCV002493275 ; RCV003980344
• dbSNP Id: rs398123566
• ExAC: X:153363099 CGCG / C
• gnomAD v2: X-153363099-CGCG-C
• gnomAD v3: X-154097642-CGCG-C
• gnomAD v4: X-154097642-CGCG-C
• COSMIC: COSN20067908 ; COSN20083519 ; COSN20122790 ; COSN24392042
• MyVariant Identifiers: chrX:g.153363106_153363108del (hg19) ; chrX:g.153363100_153363102del (hg19) ; chrX:g.154097644_154097646del (hg38) ; chrX:g.154097643_154097645del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097660_154097662del , CM000685.2:g.154097660_154097662del	GRCh38
NC_000023.10:g.153363117_153363119del , CM000685.1:g.153363117_153363119del	GRCh37
NC_000023.9:g.153016311_153016313del	NCBI36
NG_007107.2:g.44477_44479del
NG_007107.3:g.44459_44461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-140_-138del MANE Plus Clinical	ENSP00000301948.6:n.-140_-138del
ENST00000453960.7:c.21_23del MANE Select	ENSP00000395535.2:p.Ala8del
ENST00000303391.10:c.-140_-138del	ENSP00000301948.6:n.-140_-138del
ENST00000369957.5:c.-140_-138del	ENSP00000358973.4:n.-140_-138del
ENST00000407218.5:c.21_23del	ENSP00000384865.2:p.Ala8del
ENST00000453960.6:c.21_23del	ENSP00000395535.2:p.Ala8del
ENST00000619732.4:c.-140_-138del	ENSP00000480973.1:n.-140_-138del
ENST00000627864.1:n.36_38del
ENST00000628176.2:c.-140_-138del	ENSP00000486978.1:n.-140_-138del
ENST00000631210.1:n.305+7136_305+7138del
NM_001110792.1:c.21_23del	NP_001104262.1:p.Ala8del
NM_001316337.1:c.-587_-585del	NP_001303266.1:n.-587_-585del
NM_004992.3:c.-140_-138del	NP_004983.1:n.-140_-138del
XM_005274682.3:c.-531_-529del	XP_005274739.1:n.-531_-529del
NM_001110792.2:c.21_23del MANE Select	NP_001104262.1:p.Ala8del
NM_001316337.2:c.-587_-585del	NP_001303266.1:n.-587_-585del
NM_001369391.2:c.-882_-880del	NP_001356320.1:n.-882_-880del
NM_001369392.2:c.-531_-529del	NP_001356321.1:n.-531_-529del
NM_001369393.2:c.-407_-405del	NP_001356322.1:n.-407_-405del
NM_001386137.1:c.-812_-810del	NP_001373066.1:n.-812_-810del
NM_001386138.1:c.-700_-698del	NP_001373067.1:n.-700_-698del
NM_001386139.1:c.-576_-574del	NP_001373068.1:n.-576_-574del
NM_004992.4:c.-140_-138del MANE Plus Clinical	NP_004983.1:n.-140_-138del