Canonical Allele Identifier: CA274586

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189707
• ClinVar RCV Id: RCV000170197
• MyVariant Identifiers: chrX:g.153295818_153296901del (hg19) ; chrX:g.154030367_154031450del (hg38)
• PubMed: PMID:16630165

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030367_154031450del , CM000685.2:g.154030367_154031450del	GRCh38
NC_000023.10:g.153295818_153296901del , CM000685.1:g.153295818_153296901del	GRCh37
NC_000023.9:g.152949012_152950095del	NCBI36
NG_007107.2:g.110678_111761del
NG_007107.3:g.110654_111737del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.378_1461del MANE Plus Clinical	ENSP00000301948.6:p.Pro127PhefsTer24
ENST00000453960.7:c.414_1497del MANE Select	ENSP00000395535.2:p.Pro139PhefsTer24
ENST00000303391.10:c.378_1461del	ENSP00000301948.6:p.Pro127PhefsTer24
ENST00000453960.6:c.414_1497del	ENSP00000395535.2:p.Pro139PhefsTer24
ENST00000619732.4:c.378_1457del
ENST00000628176.2:c.378_*833del
NM_001110792.1:c.414_1497del	NP_001104262.1:p.Pro139PhefsTer24
NM_001316337.1:c.99_1182del	NP_001303266.1:p.Pro34PhefsTer24
NM_004992.3:c.378_1461del	NP_004983.1:p.Pro127PhefsTer24
XM_005274681.3:c.378_1461del	XP_005274738.1:p.Pro127PhefsTer24
XM_005274682.3:c.99_1182del	XP_005274739.1:p.Pro34PhefsTer24
XM_005274683.3:c.99_1182del	XP_005274740.1:p.Pro34PhefsTer24
XM_006724819.2:c.-183_792del
XM_011531166.1:c.99_1182del	XP_011529468.1:p.Pro34PhefsTer24
XM_006724819.3:c.-183_792del
XM_011531166.2:c.99_1182del	XP_011529468.1:p.Pro34PhefsTer24
XM_024452383.1:c.99_1182del	XP_024308151.1:p.Pro34PhefsTer24
XM_024452384.1:c.99_1182del	XP_024308152.1:p.Pro34PhefsTer24
NM_001110792.2:c.414_1497del MANE Select	NP_001104262.1:p.Pro139PhefsTer24
NM_001316337.2:c.99_1182del	NP_001303266.1:p.Pro34PhefsTer24
NM_001369391.2:c.99_1182del	NP_001356320.1:p.Pro34PhefsTer24
NM_001369392.2:c.99_1182del	NP_001356321.1:p.Pro34PhefsTer24
NM_001369393.2:c.99_1182del	NP_001356322.1:p.Pro34PhefsTer24
NM_001369394.1:c.99_1182del	NP_001356323.1:p.Pro34PhefsTer24
NM_001369394.2:c.99_1182del	NP_001356323.1:p.Pro34PhefsTer24
NM_001386137.1:c.-183_792del
NM_001386138.1:c.-183_792del
NM_001386139.1:c.-183_792del
NM_004992.4:c.378_1461del MANE Plus Clinical	NP_004983.1:p.Pro127PhefsTer24