Canonical Allele Identifier: CA274672

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189770
• ClinVar RCV Id: RCV000170288 ; RCV001245569
• dbSNP Id: rs786205042
• gnomAD v4: X-154097608-TCTCCTCCTCGC-T
• MyVariant Identifiers: chrX:g.153363066_153363076del (hg19) ; chrX:g.154097609_154097619del (hg38)
• PubMed: PMID:15034579 ; PMID:15689438 ; PMID:15857422 ; PMID:16155192 ; PMID:23810759

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097618_154097628del , CM000685.2:g.154097618_154097628del	GRCh38
NC_000023.10:g.153363075_153363085del , CM000685.1:g.153363075_153363085del	GRCh37
NC_000023.9:g.153016269_153016279del	NCBI36
NG_007107.2:g.44503_44513del
NG_007107.3:g.44485_44495del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-114_-104del MANE Plus Clinical	ENSP00000301948.6:n.-114_-104del
ENST00000453960.7:c.47_57del MANE Select	ENSP00000395535.2:p.Gly16GlufsTer22
ENST00000303391.10:c.-114_-104del	ENSP00000301948.6:n.-114_-104del
ENST00000369957.5:c.-114_-104del	ENSP00000358973.4:n.-114_-104del
ENST00000407218.5:c.47_57del	ENSP00000384865.2:p.Gly16GlufsTer22
ENST00000453960.6:c.47_57del	ENSP00000395535.2:p.Gly16GlufsTer22
ENST00000619732.4:c.-114_-104del	ENSP00000480973.1:n.-114_-104del
ENST00000627864.1:n.62_72del
ENST00000628176.2:c.-114_-104del	ENSP00000486978.1:n.-114_-104del
ENST00000631210.1:n.305+7162_305+7172del
NM_001110792.1:c.47_57del	NP_001104262.1:p.Gly16GlufsTer22
NM_001316337.1:c.-561_-551del	NP_001303266.1:n.-561_-551del
NM_004992.3:c.-114_-104del	NP_004983.1:n.-114_-104del
XM_005274682.3:c.-505_-495del	XP_005274739.1:n.-505_-495del
NM_001110792.2:c.47_57del MANE Select	NP_001104262.1:p.Gly16GlufsTer22
NM_001316337.2:c.-561_-551del	NP_001303266.1:n.-561_-551del
NM_001369391.2:c.-856_-846del	NP_001356320.1:n.-856_-846del
NM_001369392.2:c.-505_-495del	NP_001356321.1:n.-505_-495del
NM_001369393.2:c.-381_-371del	NP_001356322.1:n.-381_-371del
NM_001386137.1:c.-786_-776del	NP_001373066.1:n.-786_-776del
NM_001386138.1:c.-674_-664del	NP_001373067.1:n.-674_-664del
NM_001386139.1:c.-550_-540del	NP_001373068.1:n.-550_-540del
NM_004992.4:c.-114_-104del MANE Plus Clinical	NP_004983.1:n.-114_-104del