Canonical Allele Identifier: CA2466594761

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097610_154097618delinsTCCTCCTCG , CM000685.2:g.154097610_154097618delinsTCCTCCTCG	GRCh38
NC_000023.10:g.153363067_153363075delinsTCCTCCTCG , CM000685.1:g.153363067_153363075delinsTCCTCCTCG	GRCh37
NC_000023.9:g.153016261_153016269delinsTCCTCCTCG	NCBI36
NG_007107.2:g.44504_44512delinsCGAGGAGGA
NG_007107.3:g.44486_44494delinsCGAGGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700484.1:n.8_16delinsCGAGGAGGA
ENST00000303391.11:c.-113_-105delinsCGAGGAGGA MANE Plus Clinical	ENSP00000301948.6:n.-113_-105delinsCGAGGAGGA
ENST00000453960.7:c.48_56delinsCGAGGAGGA MANE Select	ENSP00000395535.2:p.Gly16=
ENST00000676382.1:n.8_16delinsCGAGGAGGA
ENST00000303391.10:c.-113_-105delinsCGAGGAGGA	ENSP00000301948.6:n.-113_-105delinsCGAGGAGGA
ENST00000369957.5:c.-113_-105delinsCGAGGAGGA	ENSP00000358973.4:n.-113_-105delinsCGAGGAGGA
ENST00000407218.5:c.48_56delinsCGAGGAGGA	ENSP00000384865.2:p.Gly16=
ENST00000453960.6:c.48_56delinsCGAGGAGGA	ENSP00000395535.2:p.Gly16=
ENST00000619732.4:c.-113_-105delinsCGAGGAGGA	ENSP00000480973.1:n.-113_-105delinsCGAGGAGGA
ENST00000627864.1:n.63_71delinsCGAGGAGGA
ENST00000628176.2:c.-113_-105delinsCGAGGAGGA	ENSP00000486978.1:n.-113_-105delinsCGAGGAGGA
ENST00000631210.1:n.305+7163_305+7171delinsCGAGGAGGA
NM_001110792.1:c.48_56delinsCGAGGAGGA	NP_001104262.1:p.Gly16=
NM_001316337.1:c.-560_-552delinsCGAGGAGGA	NP_001303266.1:n.-560_-552delinsCGAGGAGGA
NM_004992.3:c.-113_-105delinsCGAGGAGGA	NP_004983.1:n.-113_-105delinsCGAGGAGGA
XM_005274682.3:c.-504_-496delinsCGAGGAGGA	XP_005274739.1:n.-504_-496delinsCGAGGAGGA
NM_001110792.2:c.48_56delinsCGAGGAGGA MANE Select	NP_001104262.1:p.Gly16=
NM_001316337.2:c.-560_-552delinsCGAGGAGGA	NP_001303266.1:n.-560_-552delinsCGAGGAGGA
NM_001369391.2:c.-855_-847delinsCGAGGAGGA	NP_001356320.1:n.-855_-847delinsCGAGGAGGA
NM_001369392.2:c.-504_-496delinsCGAGGAGGA	NP_001356321.1:n.-504_-496delinsCGAGGAGGA
NM_001369393.2:c.-380_-372delinsCGAGGAGGA	NP_001356322.1:n.-380_-372delinsCGAGGAGGA
NM_001386137.1:c.-785_-777delinsCGAGGAGGA	NP_001373066.1:n.-785_-777delinsCGAGGAGGA
NM_001386138.1:c.-673_-665delinsCGAGGAGGA	NP_001373067.1:n.-673_-665delinsCGAGGAGGA
NM_001386139.1:c.-549_-541delinsCGAGGAGGA	NP_001373068.1:n.-549_-541delinsCGAGGAGGA
NM_004992.4:c.-113_-105delinsCGAGGAGGA MANE Plus Clinical	NP_004983.1:n.-113_-105delinsCGAGGAGGA