Canonical Allele Identifier: CA274566

Gene: MECP2

Linked Data

• ClinVar Variation Id: 189659
• ClinVar RCV Id: RCV000170143
• dbSNP Id: rs1557135212
• MyVariant Identifiers: chrX:g.153296052_153296137del (hg19) ; chrX:g.154030601_154030686del (hg38)
• PubMed: PMID:20098342

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030603_154030688del , CM000685.2:g.154030603_154030688del	GRCh38
NC_000023.10:g.153296054_153296139del , CM000685.1:g.153296054_153296139del	GRCh37
NC_000023.9:g.152949248_152949333del	NCBI36
NG_007107.2:g.111442_111527del
NG_007107.3:g.111418_111503del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1142_1227del MANE Plus Clinical	ENSP00000301948.6:p.Pro381GlnfsTer26
ENST00000453960.7:c.1178_1263del MANE Select	ENSP00000395535.2:p.Pro393GlnfsTer26
ENST00000303391.10:c.1142_1227del	ENSP00000301948.6:p.Pro381GlnfsTer26
ENST00000453960.6:c.1178_1263del	ENSP00000395535.2:p.Pro393GlnfsTer26
ENST00000619732.4:c.1142_1227del	ENSP00000480973.1:p.Pro381GlnfsTer26
ENST00000628176.2:c.*514_*599del	ENSP00000486978.1:n.*514_*599del
NM_001110792.1:c.1178_1263del	NP_001104262.1:p.Pro393GlnfsTer26
NM_001316337.1:c.863_948del	NP_001303266.1:p.Pro288GlnfsTer26
NM_004992.3:c.1142_1227del	NP_004983.1:p.Pro381GlnfsTer26
XM_005274681.3:c.1142_1227del	XP_005274738.1:p.Pro381GlnfsTer26
XM_005274682.3:c.863_948del	XP_005274739.1:p.Pro288GlnfsTer26
XM_005274683.3:c.863_948del	XP_005274740.1:p.Pro288GlnfsTer26
XM_006724819.2:c.473_558del	XP_006724882.1:p.Pro158GlnfsTer26
XM_011531166.1:c.863_948del	XP_011529468.1:p.Pro288GlnfsTer26
XM_006724819.3:c.473_558del	XP_006724882.1:p.Pro158GlnfsTer26
XM_011531166.2:c.863_948del	XP_011529468.1:p.Pro288GlnfsTer26
XM_024452383.1:c.863_948del	XP_024308151.1:p.Pro288GlnfsTer26
XM_024452384.1:c.863_948del	XP_024308152.1:p.Pro288GlnfsTer26
NM_001110792.2:c.1178_1263del MANE Select	NP_001104262.1:p.Pro393GlnfsTer26
NM_001316337.2:c.863_948del	NP_001303266.1:p.Pro288GlnfsTer26
NM_001369391.2:c.863_948del	NP_001356320.1:p.Pro288GlnfsTer26
NM_001369392.2:c.863_948del	NP_001356321.1:p.Pro288GlnfsTer26
NM_001369393.2:c.863_948del	NP_001356322.1:p.Pro288GlnfsTer26
NM_001369394.1:c.863_948del	NP_001356323.1:p.Pro288GlnfsTer26
NM_001369394.2:c.863_948del	NP_001356323.1:p.Pro288GlnfsTer26
NM_001386137.1:c.473_558del	NP_001373066.1:p.Pro158GlnfsTer26
NM_001386138.1:c.473_558del	NP_001373067.1:p.Pro158GlnfsTer26
NM_001386139.1:c.473_558del	NP_001373068.1:p.Pro158GlnfsTer26
NM_004992.4:c.1142_1227del MANE Plus Clinical	NP_004983.1:p.Pro381GlnfsTer26