Canonical Allele Identifier: CA294622

Gene: MECP2

Linked Data

• ClinVar Variation Id: 156615
• ClinVar RCV Id: RCV000144758 ; RCV000590874 ; RCV003126509
• dbSNP Id: rs1557135353
• MyVariant Identifiers: chrX:g.153296081_153296150del (hg19) ; chrX:g.154030630_154030699del (hg38)
• ERepo: CA294622/MONDO:0010726/016

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030635_154030704del , CM000685.2:g.154030635_154030704del	GRCh38
NC_000023.10:g.153296086_153296155del , CM000685.1:g.153296086_153296155del	GRCh37
NC_000023.9:g.152949280_152949349del	NCBI36
NG_007107.2:g.111429_111498del
NG_007107.3:g.111405_111474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1129_1198del MANE Plus Clinical	ENSP00000301948.6:p.Lys377ProfsTer9
ENST00000453960.7:c.1165_1234del MANE Select	ENSP00000395535.2:p.Lys389ProfsTer9
ENST00000303391.10:c.1129_1198del	ENSP00000301948.6:p.Lys377ProfsTer9
ENST00000407218.5:c.*501_*570del	ENSP00000384865.2:n.*501_*570del
ENST00000453960.6:c.1165_1234del	ENSP00000395535.2:p.Lys389ProfsTer9
ENST00000619732.4:c.1129_1198del	ENSP00000480973.1:p.Lys377ProfsTer9
ENST00000628176.2:c.*501_*570del	ENSP00000486978.1:n.*501_*570del
NM_001110792.1:c.1165_1234del	NP_001104262.1:p.Lys389ProfsTer9
NM_001316337.1:c.850_919del	NP_001303266.1:p.Lys284ProfsTer9
NM_004992.3:c.1129_1198del	NP_004983.1:p.Lys377ProfsTer9
XM_005274681.3:c.1129_1198del	XP_005274738.1:p.Lys377ProfsTer9
XM_005274682.3:c.850_919del	XP_005274739.1:p.Lys284ProfsTer9
XM_005274683.3:c.850_919del	XP_005274740.1:p.Lys284ProfsTer9
XM_006724819.2:c.460_529del	XP_006724882.1:p.Lys154ProfsTer9
XM_011531166.1:c.850_919del	XP_011529468.1:p.Lys284ProfsTer9
XM_006724819.3:c.460_529del	XP_006724882.1:p.Lys154ProfsTer9
XM_011531166.2:c.850_919del	XP_011529468.1:p.Lys284ProfsTer9
XM_024452383.1:c.850_919del	XP_024308151.1:p.Lys284ProfsTer9
XM_024452384.1:c.850_919del	XP_024308152.1:p.Lys284ProfsTer9
NM_001110792.2:c.1165_1234del MANE Select	NP_001104262.1:p.Lys389ProfsTer9
NM_001316337.2:c.850_919del	NP_001303266.1:p.Lys284ProfsTer9
NM_001369391.2:c.850_919del	NP_001356320.1:p.Lys284ProfsTer9
NM_001369392.2:c.850_919del	NP_001356321.1:p.Lys284ProfsTer9
NM_001369393.2:c.850_919del	NP_001356322.1:p.Lys284ProfsTer9
NM_001369394.1:c.850_919del	NP_001356323.1:p.Lys284ProfsTer9
NM_001369394.2:c.850_919del	NP_001356323.1:p.Lys284ProfsTer9
NM_001386137.1:c.460_529del	NP_001373066.1:p.Lys154ProfsTer9
NM_001386138.1:c.460_529del	NP_001373067.1:p.Lys154ProfsTer9
NM_001386139.1:c.460_529del	NP_001373068.1:p.Lys154ProfsTer9
NM_004992.4:c.1129_1198del MANE Plus Clinical	NP_004983.1:p.Lys377ProfsTer9