Canonical Allele Identifier: CA2695237704

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097644_154097648del , CM000685.2:g.154097644_154097648del	GRCh38
NC_000023.10:g.153363101_153363105del , CM000685.1:g.153363101_153363105del	GRCh37
NC_000023.9:g.153016295_153016299del	NCBI36
NG_007107.2:g.44479_44483del
NG_007107.3:g.44461_44465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-138_-134del MANE Plus Clinical	ENSP00000301948.6:n.-138_-134del
ENST00000453960.7:c.23_27del MANE Select	ENSP00000395535.2:p.Ala8GlufsTer?
ENST00000303391.10:c.-138_-134del	ENSP00000301948.6:n.-138_-134del
ENST00000369957.5:c.-138_-134del	ENSP00000358973.4:n.-138_-134del
ENST00000407218.5:c.23_27del	ENSP00000384865.2:p.Ala8GlufsTer?
ENST00000453960.6:c.23_27del	ENSP00000395535.2:p.Ala8GlufsTer?
ENST00000619732.4:c.-138_-134del	ENSP00000480973.1:n.-138_-134del
ENST00000627864.1:n.38_42del
ENST00000628176.2:c.-138_-134del	ENSP00000486978.1:n.-138_-134del
ENST00000631210.1:n.305+7138_305+7142del
NM_001110792.1:c.23_27del	NP_001104262.1:p.Ala8GlufsTer?
NM_001316337.1:c.-585_-581del	NP_001303266.1:n.-585_-581del
NM_004992.3:c.-138_-134del	NP_004983.1:n.-138_-134del
XM_005274682.3:c.-529_-525del	XP_005274739.1:n.-529_-525del
NM_001110792.2:c.23_27del MANE Select	NP_001104262.1:p.Ala8GlufsTer?
NM_001316337.2:c.-585_-581del	NP_001303266.1:n.-585_-581del
NM_001369391.2:c.-880_-876del	NP_001356320.1:n.-880_-876del
NM_001369392.2:c.-529_-525del	NP_001356321.1:n.-529_-525del
NM_001369393.2:c.-405_-401del	NP_001356322.1:n.-405_-401del
NM_001386137.1:c.-810_-806del	NP_001373066.1:n.-810_-806del
NM_001386138.1:c.-698_-694del	NP_001373067.1:n.-698_-694del
NM_001386139.1:c.-574_-570del	NP_001373068.1:n.-574_-570del
NM_004992.4:c.-138_-134del MANE Plus Clinical	NP_004983.1:n.-138_-134del