Canonical Allele Identifier: CA645289934

Gene: MECP2

Linked Data

• dbSNP Id: rs781797639
• gnomAD v2: X-153297607-C-CA
• gnomAD v4: X-154032156-C-CA
• MyVariant Identifiers: chrX:g.153297607_153297608insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032156_154032157insA , CM000685.2:g.154032156_154032157insA	GRCh38
NC_000023.10:g.153297607_153297608insA , CM000685.1:g.153297607_153297608insA	GRCh37
NC_000023.9:g.152950801_152950802insA	NCBI36
NG_007107.2:g.109971_109972insT
NG_007107.3:g.109947_109948insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.377+50_377+51insT MANE Plus Clinical	ENSP00000301948.6:n.377+50_377+51insT
ENST00000453960.7:c.413+50_413+51insT MANE Select	ENSP00000395535.2:n.413+50_413+51insT
ENST00000637917.1:c.10+50_10+51insT
ENST00000303391.10:c.377+50_377+51insT	ENSP00000301948.6:n.377+50_377+51insT
ENST00000369957.5:c.*431+50_*431+51insT	ENSP00000358973.4:n.*431+50_*431+51insT
ENST00000407218.5:c.413+50_413+51insT	ENSP00000384865.2:n.413+50_413+51insT
ENST00000453960.6:c.413+50_413+51insT	ENSP00000395535.2:n.413+50_413+51insT
ENST00000486506.5:n.2725+50_2725+51insT
ENST00000611468.1:c.365+50_365+51insT	ENSP00000479736.1:n.365+50_365+51insT
ENST00000619732.4:c.377+50_377+51insT	ENSP00000480973.1:n.377+50_377+51insT
ENST00000622433.4:c.365+50_365+51insT	ENSP00000484470.1:n.365+50_365+51insT
ENST00000628176.2:c.377+50_377+51insT	ENSP00000486978.1:n.377+50_377+51insT
NM_001110792.1:c.413+50_413+51insT	NP_001104262.1:n.413+50_413+51insT
NM_001316337.1:c.98+50_98+51insT	NP_001303266.1:n.98+50_98+51insT
NM_004992.3:c.377+50_377+51insT	NP_004983.1:n.377+50_377+51insT
XM_005274681.3:c.377+50_377+51insT	XP_005274738.1:n.377+50_377+51insT
XM_005274682.3:c.98+50_98+51insT	XP_005274739.1:n.98+50_98+51insT
XM_005274683.3:c.98+50_98+51insT	XP_005274740.1:n.98+50_98+51insT
XM_006724819.2:c.-184+50_-184+51insT	XP_006724882.1:n.-184+50_-184+51insT
XM_011531166.1:c.98+50_98+51insT	XP_011529468.1:n.98+50_98+51insT
XM_006724819.3:c.-184+50_-184+51insT	XP_006724882.1:n.-184+50_-184+51insT
XM_011531166.2:c.98+50_98+51insT	XP_011529468.1:n.98+50_98+51insT
XM_024452383.1:c.98+50_98+51insT	XP_024308151.1:n.98+50_98+51insT
XM_024452384.1:c.98+50_98+51insT	XP_024308152.1:n.98+50_98+51insT
NM_001110792.2:c.413+50_413+51insT MANE Select	NP_001104262.1:n.413+50_413+51insT
NM_001316337.2:c.98+50_98+51insT	NP_001303266.1:n.98+50_98+51insT
NM_001369391.2:c.98+50_98+51insT	NP_001356320.1:n.98+50_98+51insT
NM_001369392.2:c.98+50_98+51insT	NP_001356321.1:n.98+50_98+51insT
NM_001369393.2:c.98+50_98+51insT	NP_001356322.1:n.98+50_98+51insT
NM_001369394.1:c.98+50_98+51insT	NP_001356323.1:n.98+50_98+51insT
NM_001369394.2:c.98+50_98+51insT	NP_001356323.1:n.98+50_98+51insT
NM_001386137.1:c.-184+50_-184+51insT	NP_001373066.1:n.-184+50_-184+51insT
NM_001386138.1:c.-184+50_-184+51insT	NP_001373067.1:n.-184+50_-184+51insT
NM_001386139.1:c.-184+50_-184+51insT	NP_001373068.1:n.-184+50_-184+51insT
NM_004992.4:c.377+50_377+51insT MANE Plus Clinical	NP_004983.1:n.377+50_377+51insT