Canonical Allele Identifier: CA2824286315

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097633_154097634del , CM000685.2:g.154097633_154097634del	GRCh38
NC_000023.10:g.153363090_153363091del , CM000685.1:g.153363090_153363091del	GRCh37
NC_000023.9:g.153016284_153016285del	NCBI36
NG_007107.2:g.44489_44490del
NG_007107.3:g.44471_44472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.-128_-127del MANE Plus Clinical	ENSP00000301948.6:n.-128_-127del
ENST00000453960.7:c.33_34del MANE Select	ENSP00000395535.2:p.Gly12ArgfsTer29
ENST00000303391.10:c.-128_-127del	ENSP00000301948.6:n.-128_-127del
ENST00000369957.5:c.-128_-127del	ENSP00000358973.4:n.-128_-127del
ENST00000407218.5:c.33_34del	ENSP00000384865.2:p.Gly12ArgfsTer29
ENST00000453960.6:c.33_34del	ENSP00000395535.2:p.Gly12ArgfsTer29
ENST00000619732.4:c.-128_-127del	ENSP00000480973.1:n.-128_-127del
ENST00000627864.1:n.48_49del
ENST00000628176.2:c.-128_-127del	ENSP00000486978.1:n.-128_-127del
ENST00000631210.1:n.305+7148_305+7149del
NM_001110792.1:c.33_34del	NP_001104262.1:p.Gly12ArgfsTer29
NM_001316337.1:c.-575_-574del	NP_001303266.1:n.-575_-574del
NM_004992.3:c.-128_-127del	NP_004983.1:n.-128_-127del
XM_005274682.3:c.-519_-518del	XP_005274739.1:n.-519_-518del
NM_001110792.2:c.33_34del MANE Select	NP_001104262.1:p.Gly12ArgfsTer29
NM_001316337.2:c.-575_-574del	NP_001303266.1:n.-575_-574del
NM_001369391.2:c.-870_-869del	NP_001356320.1:n.-870_-869del
NM_001369392.2:c.-519_-518del	NP_001356321.1:n.-519_-518del
NM_001369393.2:c.-395_-394del	NP_001356322.1:n.-395_-394del
NM_001386137.1:c.-800_-799del	NP_001373066.1:n.-800_-799del
NM_001386138.1:c.-688_-687del	NP_001373067.1:n.-688_-687del
NM_001386139.1:c.-564_-563del	NP_001373068.1:n.-564_-563del
NM_004992.4:c.-128_-127del MANE Plus Clinical	NP_004983.1:n.-128_-127del