Canonical Allele Identifier: CA274587

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189708
• ClinVar RCV Id: RCV000170203
• MyVariant Identifiers: chrX:g.153296090_153296897del (hg19) ; chrX:g.154030639_154031446del (hg38)
• PubMed: PMID:16473305

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030639_154031446del , CM000685.2:g.154030639_154031446del	GRCh38
NC_000023.10:g.153296090_153296897del , CM000685.1:g.153296090_153296897del	GRCh37
NC_000023.9:g.152949284_152950091del	NCBI36
NG_007107.2:g.110682_111489del
NG_007107.3:g.110658_111465del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.382_1189del MANE Plus Clinical	ENSP00000301948.6:p.Gln128ArgfsTer12
ENST00000453960.7:c.418_1225del MANE Select	ENSP00000395535.2:p.Gln140ArgfsTer12
ENST00000303391.10:c.382_1189del	ENSP00000301948.6:p.Gln128ArgfsTer12
ENST00000407218.5:c.418_*561del
ENST00000453960.6:c.418_1225del	ENSP00000395535.2:p.Gln140ArgfsTer12
ENST00000619732.4:c.382_1189del	ENSP00000480973.1:p.Gln128ArgfsTer12
ENST00000628176.2:c.382_*561del
NM_001110792.1:c.418_1225del	NP_001104262.1:p.Gln140ArgfsTer12
NM_001316337.1:c.103_910del	NP_001303266.1:p.Gln35ArgfsTer12
NM_004992.3:c.382_1189del	NP_004983.1:p.Gln128ArgfsTer12
XM_005274681.3:c.382_1189del	XP_005274738.1:p.Gln128ArgfsTer12
XM_005274682.3:c.103_910del	XP_005274739.1:p.Gln35ArgfsTer12
XM_005274683.3:c.103_910del	XP_005274740.1:p.Gln35ArgfsTer12
XM_006724819.2:c.-179_520del
XM_011531166.1:c.103_910del	XP_011529468.1:p.Gln35ArgfsTer12
XM_006724819.3:c.-179_520del
XM_011531166.2:c.103_910del	XP_011529468.1:p.Gln35ArgfsTer12
XM_024452383.1:c.103_910del	XP_024308151.1:p.Gln35ArgfsTer12
XM_024452384.1:c.103_910del	XP_024308152.1:p.Gln35ArgfsTer12
NM_001110792.2:c.418_1225del MANE Select	NP_001104262.1:p.Gln140ArgfsTer12
NM_001316337.2:c.103_910del	NP_001303266.1:p.Gln35ArgfsTer12
NM_001369391.2:c.103_910del	NP_001356320.1:p.Gln35ArgfsTer12
NM_001369392.2:c.103_910del	NP_001356321.1:p.Gln35ArgfsTer12
NM_001369393.2:c.103_910del	NP_001356322.1:p.Gln35ArgfsTer12
NM_001369394.1:c.103_910del	NP_001356323.1:p.Gln35ArgfsTer12
NM_001369394.2:c.103_910del	NP_001356323.1:p.Gln35ArgfsTer12
NM_001386137.1:c.-179_520del
NM_001386138.1:c.-179_520del
NM_001386139.1:c.-179_520del
NM_004992.4:c.382_1189del MANE Plus Clinical	NP_004983.1:p.Gln128ArgfsTer12