Canonical Allele Identifier: CA270175

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143304
• ClinVar RCV Id: RCV000132828 ; RCV001219819
• dbSNP Id: rs61754428
• MyVariant Identifiers: chrX:g.153297932_153297935del (hg19) ; chrX:g.154032481_154032484del (hg38)
• PubMed: PMID:11524741

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032482_154032485del , CM000685.2:g.154032482_154032485del	GRCh38
NC_000023.10:g.153297933_153297936del , CM000685.1:g.153297933_153297936del	GRCh37
NC_000023.9:g.152951127_152951130del	NCBI36
NG_007107.2:g.109644_109647del
NG_007107.3:g.109620_109623del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.100_103del MANE Plus Clinical	ENSP00000301948.6:p.Asp34ArgfsTer?
ENST00000453960.7:c.136_139del MANE Select	ENSP00000395535.2:p.Asp46ArgfsTer?
ENST00000611468.2:n.348_351del
ENST00000630151.2:c.100_103del	ENSP00000486089.1:p.Asp34ArgfsTer?
ENST00000637533.1:n.131_134del
ENST00000676382.1:n.293_296del
ENST00000303391.10:c.100_103del	ENSP00000301948.6:p.Asp34ArgfsTer?
ENST00000369957.5:c.*154_*157del	ENSP00000358973.4:n.*154_*157del
ENST00000407218.5:c.136_139del	ENSP00000384865.2:p.Asp46ArgfsTer?
ENST00000415944.3:c.100_103del	ENSP00000416267.1:p.Asp34ArgfsTer?
ENST00000453960.6:c.136_139del	ENSP00000395535.2:p.Asp46ArgfsTer?
ENST00000460227.4:n.1249_1252del
ENST00000463644.5:n.1039_1042del
ENST00000481807.3:n.386_389del
ENST00000486506.5:n.2448_2451del
ENST00000488293.4:n.1149_1152del
ENST00000496908.5:n.231_234del
ENST00000611468.1:c.88_91del	ENSP00000479736.1:p.Asp30ArgfsTer?
ENST00000619732.4:c.100_103del	ENSP00000480973.1:p.Asp34ArgfsTer?
ENST00000622433.4:c.88_91del	ENSP00000484470.1:p.Asp30ArgfsTer?
ENST00000625300.1:n.325_328del
ENST00000626422.2:n.810_813del
ENST00000628176.2:c.100_103del	ENSP00000486978.1:p.Asp34ArgfsTer?
ENST00000630151.1:c.100_103del	ENSP00000486089.1:p.Asp34ArgfsTer?
ENST00000631210.1:n.379_382del
NM_001110792.1:c.136_139del	NP_001104262.1:p.Asp46ArgfsTer?
NM_001316337.1:c.-180_-177del	NP_001303266.1:n.-180_-177del
NM_004992.3:c.100_103del	NP_004983.1:p.Asp34ArgfsTer?
XM_005274681.3:c.100_103del	XP_005274738.1:p.Asp34ArgfsTer?
XM_005274682.3:c.-180_-177del	XP_005274739.1:n.-180_-177del
XM_005274683.3:c.-180_-177del	XP_005274740.1:n.-180_-177del
XM_011531166.1:c.-180_-177del	XP_011529468.1:n.-180_-177del
XM_006724819.3:c.-461_-458del	XP_006724882.1:n.-461_-458del
XM_011531166.2:c.-180_-177del	XP_011529468.1:n.-180_-177del
XM_024452383.1:c.-180_-177del	XP_024308151.1:n.-180_-177del
XM_024452384.1:c.-180_-177del	XP_024308152.1:n.-180_-177del
NM_001110792.2:c.136_139del MANE Select	NP_001104262.1:p.Asp46ArgfsTer?
NM_001316337.2:c.-180_-177del	NP_001303266.1:n.-180_-177del
NM_001369391.2:c.-180_-177del	NP_001356320.1:n.-180_-177del
NM_001369392.2:c.-180_-177del	NP_001356321.1:n.-180_-177del
NM_001369393.2:c.-180_-177del	NP_001356322.1:n.-180_-177del
NM_001369394.1:c.-180_-177del	NP_001356323.1:n.-180_-177del
NM_001369394.2:c.-180_-177del	NP_001356323.1:n.-180_-177del
NM_001386137.1:c.-461_-458del	NP_001373066.1:n.-461_-458del
NM_001386138.1:c.-461_-458del	NP_001373067.1:n.-461_-458del
NM_001386139.1:c.-461_-458del	NP_001373068.1:n.-461_-458del
NM_004992.4:c.100_103del MANE Plus Clinical	NP_004983.1:p.Asp34ArgfsTer?