Canonical Allele Identifier: CA232898

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143345
• ClinVar RCV Id: RCV000132871 ; RCV001262717 ; RCV001261387 ; RCV001386238
• dbSNP Id: rs267608382
• MyVariant Identifiers: chrX:g.153296116_153296141del (hg19) ; chrX:g.154030665_154030690del (hg38)
• ERepo: CA232898/MONDO:0010726/016

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030671_154030696del , CM000685.2:g.154030671_154030696del	GRCh38
NC_000023.10:g.153296122_153296147del , CM000685.1:g.153296122_153296147del	GRCh37
NC_000023.9:g.152949316_152949341del	NCBI36
NG_007107.2:g.111438_111463del
NG_007107.3:g.111414_111439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1138_1163del MANE Plus Clinical	ENSP00000301948.6:p.Val380ThrfsTer4
ENST00000453960.7:c.1174_1199del MANE Select	ENSP00000395535.2:p.Val392ThrfsTer4
ENST00000303391.10:c.1138_1163del	ENSP00000301948.6:p.Val380ThrfsTer4
ENST00000407218.5:c.*510_*535del	ENSP00000384865.2:n.*510_*535del
ENST00000453960.6:c.1174_1199del	ENSP00000395535.2:p.Val392ThrfsTer4
ENST00000619732.4:c.1138_1163del	ENSP00000480973.1:p.Val380ThrfsTer4
ENST00000628176.2:c.*510_*535del	ENSP00000486978.1:n.*510_*535del
NM_001110792.1:c.1174_1199del	NP_001104262.1:p.Val392ThrfsTer4
NM_001316337.1:c.859_884del	NP_001303266.1:p.Val287ThrfsTer4
NM_004992.3:c.1138_1163del	NP_004983.1:p.Val380ThrfsTer4
XM_005274681.3:c.1138_1163del	XP_005274738.1:p.Val380ThrfsTer4
XM_005274682.3:c.859_884del	XP_005274739.1:p.Val287ThrfsTer4
XM_005274683.3:c.859_884del	XP_005274740.1:p.Val287ThrfsTer4
XM_006724819.2:c.469_494del	XP_006724882.1:p.Val157ThrfsTer4
XM_011531166.1:c.859_884del	XP_011529468.1:p.Val287ThrfsTer4
XM_006724819.3:c.469_494del	XP_006724882.1:p.Val157ThrfsTer4
XM_011531166.2:c.859_884del	XP_011529468.1:p.Val287ThrfsTer4
XM_024452383.1:c.859_884del	XP_024308151.1:p.Val287ThrfsTer4
XM_024452384.1:c.859_884del	XP_024308152.1:p.Val287ThrfsTer4
NM_001110792.2:c.1174_1199del MANE Select	NP_001104262.1:p.Val392ThrfsTer4
NM_001316337.2:c.859_884del	NP_001303266.1:p.Val287ThrfsTer4
NM_001369391.2:c.859_884del	NP_001356320.1:p.Val287ThrfsTer4
NM_001369392.2:c.859_884del	NP_001356321.1:p.Val287ThrfsTer4
NM_001369393.2:c.859_884del	NP_001356322.1:p.Val287ThrfsTer4
NM_001369394.1:c.859_884del	NP_001356323.1:p.Val287ThrfsTer4
NM_001369394.2:c.859_884del	NP_001356323.1:p.Val287ThrfsTer4
NM_001386137.1:c.469_494del	NP_001373066.1:p.Val157ThrfsTer4
NM_001386138.1:c.469_494del	NP_001373067.1:p.Val157ThrfsTer4
NM_001386139.1:c.469_494del	NP_001373068.1:p.Val157ThrfsTer4
NM_004992.4:c.1138_1163del MANE Plus Clinical	NP_004983.1:p.Val380ThrfsTer4