Canonical Allele Identifier: CA915952030

Gene: MECP2

Linked Data

• ClinVar Variation Id: 635824
• ClinVar RCV Id: RCV000787333
• dbSNP Id: rs1603309190

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031215_154031216del , CM000685.2:g.154031215_154031216del	GRCh38
NC_000023.10:g.153296666_153296667del , CM000685.1:g.153296666_153296667del	GRCh37
NC_000023.9:g.152949860_152949861del	NCBI36
NG_007107.2:g.110914_110915del
NG_007107.3:g.110890_110891del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.614_615del MANE Plus Clinical	ENSP00000301948.6:p.Glu205GlyfsTer30
ENST00000453960.7:c.650_651del MANE Select	ENSP00000395535.2:p.Glu217GlyfsTer30
ENST00000637917.1:c.65+182_65+183del
ENST00000303391.10:c.614_615del	ENSP00000301948.6:p.Glu205GlyfsTer30
ENST00000407218.5:c.541_542del	ENSP00000384865.2:p.Arg181GlyfsTer?
ENST00000453960.6:c.650_651del	ENSP00000395535.2:p.Glu217GlyfsTer30
ENST00000619732.4:c.614_615del	ENSP00000480973.1:p.Glu205GlyfsTer30
ENST00000622433.4:c.602_603del	ENSP00000484470.1:p.Glu201GlyfsTer30
ENST00000628176.2:c.505_506del	ENSP00000486978.1:p.Arg169GlyfsTer?
NM_001110792.1:c.650_651del	NP_001104262.1:p.Glu217GlyfsTer30
NM_001316337.1:c.335_336del	NP_001303266.1:p.Glu112GlyfsTer30
NM_004992.3:c.614_615del	NP_004983.1:p.Glu205GlyfsTer30
XM_005274681.3:c.614_615del	XP_005274738.1:p.Glu205GlyfsTer30
XM_005274682.3:c.335_336del	XP_005274739.1:p.Glu112GlyfsTer30
XM_005274683.3:c.335_336del	XP_005274740.1:p.Glu112GlyfsTer30
XM_006724819.2:c.-56_-55del	XP_006724882.1:n.-56_-55del
XM_011531166.1:c.335_336del	XP_011529468.1:p.Glu112GlyfsTer30
XM_006724819.3:c.-56_-55del	XP_006724882.1:n.-56_-55del
XM_011531166.2:c.335_336del	XP_011529468.1:p.Glu112GlyfsTer30
XM_024452383.1:c.335_336del	XP_024308151.1:p.Glu112GlyfsTer30
XM_024452384.1:c.335_336del	XP_024308152.1:p.Glu112GlyfsTer30
NM_001110792.2:c.650_651del MANE Select	NP_001104262.1:p.Glu217GlyfsTer30
NM_001316337.2:c.335_336del	NP_001303266.1:p.Glu112GlyfsTer30
NM_001369391.2:c.335_336del	NP_001356320.1:p.Glu112GlyfsTer30
NM_001369392.2:c.335_336del	NP_001356321.1:p.Glu112GlyfsTer30
NM_001369393.2:c.335_336del	NP_001356322.1:p.Glu112GlyfsTer30
NM_001369394.1:c.335_336del	NP_001356323.1:p.Glu112GlyfsTer30
NM_001369394.2:c.335_336del	NP_001356323.1:p.Glu112GlyfsTer30
NM_001386137.1:c.-56_-55del	NP_001373066.1:n.-56_-55del
NM_001386138.1:c.-56_-55del	NP_001373067.1:n.-56_-55del
NM_001386139.1:c.-56_-55del	NP_001373068.1:n.-56_-55del
NM_004992.4:c.614_615del MANE Plus Clinical	NP_004983.1:p.Glu205GlyfsTer30