Canonical Allele Identifier: CA270486

Gene: MECP2

Linked Data

• ClinVar Variation Id: 143640
• ClinVar RCV Id: RCV000133180
• dbSNP Id: rs61749728
• MyVariant Identifiers: chrX:g.153296659dupA (hg19) ; chrX:g.153296658_153296659insA (hg19) ; chrX:g.154031208dupA (hg38) ; chrX:g.154031207_154031208insA (hg38)
• PubMed: PMID:10508514

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031208dup , CM000685.2:g.154031208dup	GRCh38
NC_000023.10:g.153296659dup , CM000685.1:g.153296659dup	GRCh37
NC_000023.9:g.152949853dup	NCBI36
NG_007107.2:g.110920dup
NG_007107.3:g.110896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.620dup MANE Plus Clinical	ENSP00000301948.6:p.Gln208AlafsTer28
ENST00000453960.7:c.656dup MANE Select	ENSP00000395535.2:p.Gln220AlafsTer28
ENST00000637917.1:c.65+188dup
ENST00000303391.10:c.620dup	ENSP00000301948.6:p.Gln208AlafsTer28
ENST00000407218.5:c.547dup	ENSP00000384865.2:p.Cys183LeufsTer?
ENST00000453960.6:c.656dup	ENSP00000395535.2:p.Gln220AlafsTer28
ENST00000619732.4:c.620dup	ENSP00000480973.1:p.Gln208AlafsTer28
ENST00000622433.4:c.608dup	ENSP00000484470.1:p.Gln204AlafsTer28
ENST00000628176.2:c.511dup	ENSP00000486978.1:p.Cys171LeufsTer?
NM_001110792.1:c.656dup	NP_001104262.1:p.Gln220AlafsTer28
NM_001316337.1:c.341dup	NP_001303266.1:p.Gln115AlafsTer28
NM_004992.3:c.620dup	NP_004983.1:p.Gln208AlafsTer28
XM_005274681.3:c.620dup	XP_005274738.1:p.Gln208AlafsTer28
XM_005274682.3:c.341dup	XP_005274739.1:p.Gln115AlafsTer28
XM_005274683.3:c.341dup	XP_005274740.1:p.Gln115AlafsTer28
XM_006724819.2:c.-50dup	XP_006724882.1:n.-50dup
XM_011531166.1:c.341dup	XP_011529468.1:p.Gln115AlafsTer28
XM_006724819.3:c.-50dup	XP_006724882.1:n.-50dup
XM_011531166.2:c.341dup	XP_011529468.1:p.Gln115AlafsTer28
XM_024452383.1:c.341dup	XP_024308151.1:p.Gln115AlafsTer28
XM_024452384.1:c.341dup	XP_024308152.1:p.Gln115AlafsTer28
NM_001110792.2:c.656dup MANE Select	NP_001104262.1:p.Gln220AlafsTer28
NM_001316337.2:c.341dup	NP_001303266.1:p.Gln115AlafsTer28
NM_001369391.2:c.341dup	NP_001356320.1:p.Gln115AlafsTer28
NM_001369392.2:c.341dup	NP_001356321.1:p.Gln115AlafsTer28
NM_001369393.2:c.341dup	NP_001356322.1:p.Gln115AlafsTer28
NM_001369394.1:c.341dup	NP_001356323.1:p.Gln115AlafsTer28
NM_001369394.2:c.341dup	NP_001356323.1:p.Gln115AlafsTer28
NM_001386137.1:c.-50dup	NP_001373066.1:n.-50dup
NM_001386138.1:c.-50dup	NP_001373067.1:n.-50dup
NM_001386139.1:c.-50dup	NP_001373068.1:n.-50dup
NM_004992.4:c.620dup MANE Plus Clinical	NP_004983.1:p.Gln208AlafsTer28