Canonical Allele Identifier: CA274588

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189709
• ClinVar RCV Id: RCV000170204
• MyVariant Identifiers: chrX:g.153296121_153296870del (hg19) ; chrX:g.154030670_154031419del (hg38)
• PubMed: PMID:22277191

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030672_154031421del , CM000685.2:g.154030672_154031421del	GRCh38
NC_000023.10:g.153296123_153296872del , CM000685.1:g.153296123_153296872del	GRCh37
NC_000023.9:g.152949317_152950066del	NCBI36
NG_007107.2:g.110709_111458del
NG_007107.3:g.110685_111434del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.409_1158del MANE Plus Clinical	ENSP00000301948.6:p.Glu137_Leu386del
ENST00000453960.7:c.445_1194del MANE Select	ENSP00000395535.2:p.Glu149_Leu398del
ENST00000303391.10:c.409_1158del	ENSP00000301948.6:p.Glu137_Leu386del
ENST00000407218.5:c.445_*530del
ENST00000453960.6:c.445_1194del	ENSP00000395535.2:p.Glu149_Leu398del
ENST00000619732.4:c.409_1158del	ENSP00000480973.1:p.Glu137_Leu386del
ENST00000628176.2:c.409_*530del
NM_001110792.1:c.445_1194del	NP_001104262.1:p.Glu149_Leu398del
NM_001316337.1:c.130_879del	NP_001303266.1:p.Glu44_Leu293del
NM_004992.3:c.409_1158del	NP_004983.1:p.Glu137_Leu386del
XM_005274681.3:c.409_1158del	XP_005274738.1:p.Glu137_Leu386del
XM_005274682.3:c.130_879del	XP_005274739.1:p.Glu44_Leu293del
XM_005274683.3:c.130_879del	XP_005274740.1:p.Glu44_Leu293del
XM_006724819.2:c.-152_489del
XM_011531166.1:c.130_879del	XP_011529468.1:p.Glu44_Leu293del
XM_006724819.3:c.-152_489del
XM_011531166.2:c.130_879del	XP_011529468.1:p.Glu44_Leu293del
XM_024452383.1:c.130_879del	XP_024308151.1:p.Glu44_Leu293del
XM_024452384.1:c.130_879del	XP_024308152.1:p.Glu44_Leu293del
NM_001110792.2:c.445_1194del MANE Select	NP_001104262.1:p.Glu149_Leu398del
NM_001316337.2:c.130_879del	NP_001303266.1:p.Glu44_Leu293del
NM_001369391.2:c.130_879del	NP_001356320.1:p.Glu44_Leu293del
NM_001369392.2:c.130_879del	NP_001356321.1:p.Glu44_Leu293del
NM_001369393.2:c.130_879del	NP_001356322.1:p.Glu44_Leu293del
NM_001369394.1:c.130_879del	NP_001356323.1:p.Glu44_Leu293del
NM_001369394.2:c.130_879del	NP_001356323.1:p.Glu44_Leu293del
NM_001386137.1:c.-152_489del
NM_001386138.1:c.-152_489del
NM_001386139.1:c.-152_489del
NM_004992.4:c.409_1158del MANE Plus Clinical	NP_004983.1:p.Glu137_Leu386del