Canonical Allele Identifier: CA658659056

Gene: MECP2

Linked Data

• ClinVar Variation Id: 451611
• ClinVar RCV Id: RCV002468587
• dbSNP Id: rs267608339
• gnomAD v4: X-154030664-T-TG
• MyVariant Identifiers: chrX:g.153296116dup (hg19) ; chrX:g.154030665dup (hg38)
• PubMed: PMID:8177735 ; PMID:10508514 ; PMID:11035019 ; PMID:11058114 ; PMID:11227330 ; PMID:12615169 ; PMID:15057977 ; PMID:15558314 ; PMID:16169931 ; PMID:16832102 ; PMID:17236109 ; PMID:17267601 ; PMID:17351020 ; PMID:18337588 ; PMID:21154482 ; PMID:23421866 ; PMID:24458799 ; PMID:27354166

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030669dup , CM000685.2:g.154030669dup	GRCh38
NC_000023.10:g.153296120dup , CM000685.1:g.153296120dup	GRCh37
NC_000023.9:g.152949314dup	NCBI36
NG_007107.2:g.111463dup
NG_007107.3:g.111439dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.1163dup MANE Plus Clinical	ENSP00000301948.6:p.Pro389ThrfsTer4
ENST00000453960.7:c.1199dup MANE Select	ENSP00000395535.2:p.Pro401ThrfsTer4
ENST00000303391.10:c.1163dup	ENSP00000301948.6:p.Pro389ThrfsTer4
ENST00000407218.5:c.*535dup	ENSP00000384865.2:n.*535dup
ENST00000453960.6:c.1199dup	ENSP00000395535.2:p.Pro401ThrfsTer4
ENST00000619732.4:c.1163dup	ENSP00000480973.1:p.Pro389ThrfsTer4
ENST00000628176.2:c.*535dup	ENSP00000486978.1:n.*535dup
NM_001110792.1:c.1199dup	NP_001104262.1:p.Pro401ThrfsTer4
NM_001316337.1:c.884dup	NP_001303266.1:p.Pro296ThrfsTer4
NM_004992.3:c.1163dup	NP_004983.1:p.Pro389ThrfsTer4
XM_005274681.3:c.1163dup	XP_005274738.1:p.Pro389ThrfsTer4
XM_005274682.3:c.884dup	XP_005274739.1:p.Pro296ThrfsTer4
XM_005274683.3:c.884dup	XP_005274740.1:p.Pro296ThrfsTer4
XM_006724819.2:c.494dup	XP_006724882.1:p.Pro166ThrfsTer4
XM_011531166.1:c.884dup	XP_011529468.1:p.Pro296ThrfsTer4
XM_006724819.3:c.494dup	XP_006724882.1:p.Pro166ThrfsTer4
XM_011531166.2:c.884dup	XP_011529468.1:p.Pro296ThrfsTer4
XM_024452383.1:c.884dup	XP_024308151.1:p.Pro296ThrfsTer4
XM_024452384.1:c.884dup	XP_024308152.1:p.Pro296ThrfsTer4
NM_001110792.2:c.1199dup MANE Select	NP_001104262.1:p.Pro401ThrfsTer4
NM_001316337.2:c.884dup	NP_001303266.1:p.Pro296ThrfsTer4
NM_001369391.2:c.884dup	NP_001356320.1:p.Pro296ThrfsTer4
NM_001369392.2:c.884dup	NP_001356321.1:p.Pro296ThrfsTer4
NM_001369393.2:c.884dup	NP_001356322.1:p.Pro296ThrfsTer4
NM_001369394.1:c.884dup	NP_001356323.1:p.Pro296ThrfsTer4
NM_001369394.2:c.884dup	NP_001356323.1:p.Pro296ThrfsTer4
NM_001386137.1:c.494dup	NP_001373066.1:p.Pro166ThrfsTer4
NM_001386138.1:c.494dup	NP_001373067.1:p.Pro166ThrfsTer4
NM_001386139.1:c.494dup	NP_001373068.1:p.Pro166ThrfsTer4
NM_004992.4:c.1163dup MANE Plus Clinical	NP_004983.1:p.Pro389ThrfsTer4