Canonical Allele Identifier: CA2824286321

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097644_154097645del , CM000685.2:g.154097644_154097645del	GRCh38
NC_000023.10:g.153363101_153363102del , CM000685.1:g.153363101_153363102del	GRCh37
NC_000023.9:g.153016295_153016296del	NCBI36
NG_007107.2:g.44480_44481del
NG_007107.3:g.44462_44463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-137_-136del MANE Plus Clinical	ENSP00000301948.6:n.-137_-136del
ENST00000453960.7:c.24_25del MANE Select	ENSP00000395535.2:p.Pro9GlufsTer?
ENST00000303391.10:c.-137_-136del	ENSP00000301948.6:n.-137_-136del
ENST00000369957.5:c.-137_-136del	ENSP00000358973.4:n.-137_-136del
ENST00000407218.5:c.24_25del	ENSP00000384865.2:p.Pro9GlufsTer?
ENST00000453960.6:c.24_25del	ENSP00000395535.2:p.Pro9GlufsTer?
ENST00000619732.4:c.-137_-136del	ENSP00000480973.1:n.-137_-136del
ENST00000627864.1:n.39_40del
ENST00000628176.2:c.-137_-136del	ENSP00000486978.1:n.-137_-136del
ENST00000631210.1:n.305+7139_305+7140del
NM_001110792.1:c.24_25del	NP_001104262.1:p.Pro9GlufsTer?
NM_001316337.1:c.-584_-583del	NP_001303266.1:n.-584_-583del
NM_004992.3:c.-137_-136del	NP_004983.1:n.-137_-136del
XM_005274682.3:c.-528_-527del	XP_005274739.1:n.-528_-527del
NM_001110792.2:c.24_25del MANE Select	NP_001104262.1:p.Pro9GlufsTer?
NM_001316337.2:c.-584_-583del	NP_001303266.1:n.-584_-583del
NM_001369391.2:c.-879_-878del	NP_001356320.1:n.-879_-878del
NM_001369392.2:c.-528_-527del	NP_001356321.1:n.-528_-527del
NM_001369393.2:c.-404_-403del	NP_001356322.1:n.-404_-403del
NM_001386137.1:c.-809_-808del	NP_001373066.1:n.-809_-808del
NM_001386138.1:c.-697_-696del	NP_001373067.1:n.-697_-696del
NM_001386139.1:c.-573_-572del	NP_001373068.1:n.-573_-572del
NM_004992.4:c.-137_-136del MANE Plus Clinical	NP_004983.1:n.-137_-136del