Canonical Allele Identifier: CA2466594756

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097605_154097607delinsGTC , CM000685.2:g.154097605_154097607delinsGTC	GRCh38
NC_000023.10:g.153363062_153363064delinsGTC , CM000685.1:g.153363062_153363064delinsGTC	GRCh37
NC_000023.9:g.153016256_153016258delinsGTC	NCBI36
NG_007107.2:g.44515_44517delinsGAC
NG_007107.3:g.44497_44499delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.19_21delinsGAC
ENST00000303391.11:c.-102_-100delinsGAC MANE Plus Clinical	ENSP00000301948.6:n.-102_-100delinsGAC
ENST00000453960.7:c.59_61delinsGAC MANE Select	ENSP00000395535.2:p.Arg20=
ENST00000676382.1:n.19_21delinsGAC
ENST00000303391.10:c.-102_-100delinsGAC	ENSP00000301948.6:n.-102_-100delinsGAC
ENST00000369957.5:c.-102_-100delinsGAC	ENSP00000358973.4:n.-102_-100delinsGAC
ENST00000407218.5:c.59_61delinsGAC	ENSP00000384865.2:p.Arg20=
ENST00000453960.6:c.59_61delinsGAC	ENSP00000395535.2:p.Arg20=
ENST00000619732.4:c.-102_-100delinsGAC	ENSP00000480973.1:n.-102_-100delinsGAC
ENST00000627864.1:n.74_76delinsGAC
ENST00000628176.2:c.-102_-100delinsGAC	ENSP00000486978.1:n.-102_-100delinsGAC
ENST00000631210.1:n.305+7174_305+7176delinsGAC
NM_001110792.1:c.59_61delinsGAC	NP_001104262.1:p.Arg20=
NM_001316337.1:c.-549_-547delinsGAC	NP_001303266.1:n.-549_-547delinsGAC
NM_004992.3:c.-102_-100delinsGAC	NP_004983.1:n.-102_-100delinsGAC
XM_005274682.3:c.-493_-491delinsGAC	XP_005274739.1:n.-493_-491delinsGAC
NM_001110792.2:c.59_61delinsGAC MANE Select	NP_001104262.1:p.Arg20=
NM_001316337.2:c.-549_-547delinsGAC	NP_001303266.1:n.-549_-547delinsGAC
NM_001369391.2:c.-844_-842delinsGAC	NP_001356320.1:n.-844_-842delinsGAC
NM_001369392.2:c.-493_-491delinsGAC	NP_001356321.1:n.-493_-491delinsGAC
NM_001369393.2:c.-369_-367delinsGAC	NP_001356322.1:n.-369_-367delinsGAC
NM_001386137.1:c.-774_-772delinsGAC	NP_001373066.1:n.-774_-772delinsGAC
NM_001386138.1:c.-662_-660delinsGAC	NP_001373067.1:n.-662_-660delinsGAC
NM_001386139.1:c.-538_-536delinsGAC	NP_001373068.1:n.-538_-536delinsGAC
NM_004992.4:c.-102_-100delinsGAC MANE Plus Clinical	NP_004983.1:n.-102_-100delinsGAC