Canonical Allele Identifier: CA2695237699

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031181_154031182insCC , CM000685.2:g.154031181_154031182insCC	GRCh38
NC_000023.10:g.153296632_153296633insCC , CM000685.1:g.153296632_153296633insCC	GRCh37
NC_000023.9:g.152949826_152949827insCC	NCBI36
NG_007107.2:g.110947_110948insGG
NG_007107.3:g.110923_110924insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.647_648insGG MANE Plus Clinical	ENSP00000301948.6:p.Ser216ArgfsTer?
ENST00000453960.7:c.683_684insGG MANE Select	ENSP00000395535.2:p.Ser228ArgfsTer?
ENST00000637917.1:c.65+215_65+216insGG
ENST00000303391.10:c.647_648insGG	ENSP00000301948.6:p.Ser216ArgfsTer?
ENST00000407218.5:c.*19_*20insGG	ENSP00000384865.2:n.*19_*20insGG
ENST00000453960.6:c.683_684insGG	ENSP00000395535.2:p.Ser228ArgfsTer?
ENST00000619732.4:c.647_648insGG	ENSP00000480973.1:p.Ser216ArgfsTer?
ENST00000622433.4:c.635_636insGG	ENSP00000484470.1:p.Ser212ArgfsTer?
ENST00000628176.2:c.*19_*20insGG	ENSP00000486978.1:n.*19_*20insGG
NM_001110792.1:c.683_684insGG	NP_001104262.1:p.Ser228ArgfsTer?
NM_001316337.1:c.368_369insGG	NP_001303266.1:p.Ser123ArgfsTer?
NM_004992.3:c.647_648insGG	NP_004983.1:p.Ser216ArgfsTer?
XM_005274681.3:c.647_648insGG	XP_005274738.1:p.Ser216ArgfsTer?
XM_005274682.3:c.368_369insGG	XP_005274739.1:p.Ser123ArgfsTer?
XM_005274683.3:c.368_369insGG	XP_005274740.1:p.Ser123ArgfsTer?
XM_006724819.2:c.-23_-22insGG	XP_006724882.1:n.-23_-22insGG
XM_011531166.1:c.368_369insGG	XP_011529468.1:p.Ser123ArgfsTer?
XM_006724819.3:c.-23_-22insGG	XP_006724882.1:n.-23_-22insGG
XM_011531166.2:c.368_369insGG	XP_011529468.1:p.Ser123ArgfsTer?
XM_024452383.1:c.368_369insGG	XP_024308151.1:p.Ser123ArgfsTer?
XM_024452384.1:c.368_369insGG	XP_024308152.1:p.Ser123ArgfsTer?
NM_001110792.2:c.683_684insGG MANE Select	NP_001104262.1:p.Ser228ArgfsTer?
NM_001316337.2:c.368_369insGG	NP_001303266.1:p.Ser123ArgfsTer?
NM_001369391.2:c.368_369insGG	NP_001356320.1:p.Ser123ArgfsTer?
NM_001369392.2:c.368_369insGG	NP_001356321.1:p.Ser123ArgfsTer?
NM_001369393.2:c.368_369insGG	NP_001356322.1:p.Ser123ArgfsTer?
NM_001369394.1:c.368_369insGG	NP_001356323.1:p.Ser123ArgfsTer?
NM_001369394.2:c.368_369insGG	NP_001356323.1:p.Ser123ArgfsTer?
NM_001386137.1:c.-23_-22insGG	NP_001373066.1:n.-23_-22insGG
NM_001386138.1:c.-23_-22insGG	NP_001373067.1:n.-23_-22insGG
NM_001386139.1:c.-23_-22insGG	NP_001373068.1:n.-23_-22insGG
NM_004992.4:c.647_648insGG MANE Plus Clinical	NP_004983.1:p.Ser216ArgfsTer?