Canonical Allele Identifier: CA2695237698

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031175_154031204del , CM000685.2:g.154031175_154031204del	GRCh38
NC_000023.10:g.153296626_153296655del , CM000685.1:g.153296626_153296655del	GRCh37
NC_000023.9:g.152949820_152949849del	NCBI36
NG_007107.2:g.110925_110954del
NG_007107.3:g.110901_110930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.625_654del MANE Plus Clinical	ENSP00000301948.6:p.Val209_Gly218del
ENST00000453960.7:c.661_690del MANE Select	ENSP00000395535.2:p.Val221_Gly230del
ENST00000637917.1:c.65+193_65+222del
ENST00000303391.10:c.625_654del	ENSP00000301948.6:p.Val209_Gly218del
ENST00000407218.5:c.552_*26del	ENSP00000384865.2:n.[c.552_*26del;Ter185SerextTer29]
ENST00000453960.6:c.661_690del	ENSP00000395535.2:p.Val221_Gly230del
ENST00000619732.4:c.625_654del	ENSP00000480973.1:p.Val209_Gly218del
ENST00000622433.4:c.613_642del	ENSP00000484470.1:p.Val205_Gly214del
ENST00000628176.2:c.516_*26del	ENSP00000486978.1:n.[c.516_*26del;Ter173SerextTer29]
NM_001110792.1:c.661_690del	NP_001104262.1:p.Val221_Gly230del
NM_001316337.1:c.346_375del	NP_001303266.1:p.Val116_Gly125del
NM_004992.3:c.625_654del	NP_004983.1:p.Val209_Gly218del
XM_005274681.3:c.625_654del	XP_005274738.1:p.Val209_Gly218del
XM_005274682.3:c.346_375del	XP_005274739.1:p.Val116_Gly125del
XM_005274683.3:c.346_375del	XP_005274740.1:p.Val116_Gly125del
XM_006724819.2:c.-45_-16del	XP_006724882.1:n.-45_-16del
XM_011531166.1:c.346_375del	XP_011529468.1:p.Val116_Gly125del
XM_006724819.3:c.-45_-16del	XP_006724882.1:n.-45_-16del
XM_011531166.2:c.346_375del	XP_011529468.1:p.Val116_Gly125del
XM_024452383.1:c.346_375del	XP_024308151.1:p.Val116_Gly125del
XM_024452384.1:c.346_375del	XP_024308152.1:p.Val116_Gly125del
NM_001110792.2:c.661_690del MANE Select	NP_001104262.1:p.Val221_Gly230del
NM_001316337.2:c.346_375del	NP_001303266.1:p.Val116_Gly125del
NM_001369391.2:c.346_375del	NP_001356320.1:p.Val116_Gly125del
NM_001369392.2:c.346_375del	NP_001356321.1:p.Val116_Gly125del
NM_001369393.2:c.346_375del	NP_001356322.1:p.Val116_Gly125del
NM_001369394.1:c.346_375del	NP_001356323.1:p.Val116_Gly125del
NM_001369394.2:c.346_375del	NP_001356323.1:p.Val116_Gly125del
NM_001386137.1:c.-45_-16del	NP_001373066.1:n.-45_-16del
NM_001386138.1:c.-45_-16del	NP_001373067.1:n.-45_-16del
NM_001386139.1:c.-45_-16del	NP_001373068.1:n.-45_-16del
NM_004992.4:c.625_654del MANE Plus Clinical	NP_004983.1:p.Val209_Gly218del