Canonical Allele Identifier: CA2580617355

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031019_154031062del , CM000685.2:g.154031019_154031062del	GRCh38
NC_000023.10:g.153296470_153296513del , CM000685.1:g.153296470_153296513del	GRCh37
NC_000023.9:g.152949664_152949707del	NCBI36
NG_007107.2:g.111071_111114del
NG_007107.3:g.111047_111090del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.771_814del MANE Plus Clinical	ENSP00000301948.6:p.Glu258GlyfsTer?
ENST00000453960.7:c.807_850del MANE Select	ENSP00000395535.2:p.Glu270GlyfsTer?
ENST00000637917.1:c.66-121_66-78del
ENST00000303391.10:c.771_814del	ENSP00000301948.6:p.Glu258GlyfsTer?
ENST00000407218.5:c.*143_*186del	ENSP00000384865.2:n.*143_*186del
ENST00000453960.6:c.807_850del	ENSP00000395535.2:p.Glu270GlyfsTer?
ENST00000619732.4:c.771_814del	ENSP00000480973.1:p.Glu258GlyfsTer?
ENST00000622433.4:c.759_802del	ENSP00000484470.1:p.Glu254GlyfsTer?
ENST00000628176.2:c.*143_*186del	ENSP00000486978.1:n.*143_*186del
NM_001110792.1:c.807_850del	NP_001104262.1:p.Glu270GlyfsTer?
NM_001316337.1:c.492_535del	NP_001303266.1:p.Glu165GlyfsTer?
NM_004992.3:c.771_814del	NP_004983.1:p.Glu258GlyfsTer?
XM_005274681.3:c.771_814del	XP_005274738.1:p.Glu258GlyfsTer?
XM_005274682.3:c.492_535del	XP_005274739.1:p.Glu165GlyfsTer?
XM_005274683.3:c.492_535del	XP_005274740.1:p.Glu165GlyfsTer?
XM_006724819.2:c.102_145del	XP_006724882.1:p.Glu35GlyfsTer?
XM_011531166.1:c.492_535del	XP_011529468.1:p.Glu165GlyfsTer?
XM_006724819.3:c.102_145del	XP_006724882.1:p.Glu35GlyfsTer?
XM_011531166.2:c.492_535del	XP_011529468.1:p.Glu165GlyfsTer?
XM_024452383.1:c.492_535del	XP_024308151.1:p.Glu165GlyfsTer?
XM_024452384.1:c.492_535del	XP_024308152.1:p.Glu165GlyfsTer?
NM_001110792.2:c.807_850del MANE Select	NP_001104262.1:p.Glu270GlyfsTer?
NM_001316337.2:c.492_535del	NP_001303266.1:p.Glu165GlyfsTer?
NM_001369391.2:c.492_535del	NP_001356320.1:p.Glu165GlyfsTer?
NM_001369392.2:c.492_535del	NP_001356321.1:p.Glu165GlyfsTer?
NM_001369393.2:c.492_535del	NP_001356322.1:p.Glu165GlyfsTer?
NM_001369394.1:c.492_535del	NP_001356323.1:p.Glu165GlyfsTer?
NM_001369394.2:c.492_535del	NP_001356323.1:p.Glu165GlyfsTer?
NM_001386137.1:c.102_145del	NP_001373066.1:p.Glu35GlyfsTer?
NM_001386138.1:c.102_145del	NP_001373067.1:p.Glu35GlyfsTer?
NM_001386139.1:c.102_145del	NP_001373068.1:p.Glu35GlyfsTer?
NM_004992.4:c.771_814del MANE Plus Clinical	NP_004983.1:p.Glu258GlyfsTer?