Canonical Allele Identifier: CA2466571641

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032480_154032484delinsTTATC , CM000685.2:g.154032480_154032484delinsTTATC	GRCh38
NC_000023.10:g.153297931_153297935delinsTTATC , CM000685.1:g.153297931_153297935delinsTTATC	GRCh37
NC_000023.9:g.152951125_152951129delinsTTATC	NCBI36
NG_007107.2:g.109644_109648delinsGATAA
NG_007107.3:g.109620_109624delinsGATAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.100_104delinsGATAA MANE Plus Clinical	ENSP00000301948.6:p.Asp34=
ENST00000453960.7:c.136_140delinsGATAA MANE Select	ENSP00000395535.2:p.Asp46=
ENST00000611468.2:n.348_352delinsGATAA
ENST00000630151.2:c.100_104delinsGATAA	ENSP00000486089.1:p.Asp34=
ENST00000637533.1:n.131_135delinsGATAA
ENST00000676382.1:n.293_297delinsGATAA
ENST00000303391.10:c.100_104delinsGATAA	ENSP00000301948.6:p.Asp34=
ENST00000369957.5:c.*154_*158delinsGATAA	ENSP00000358973.4:n.*154_*158delinsGATAA
ENST00000407218.5:c.136_140delinsGATAA	ENSP00000384865.2:p.Asp46=
ENST00000415944.3:c.100_104delinsGATAA	ENSP00000416267.1:p.Asp34=
ENST00000453960.6:c.136_140delinsGATAA	ENSP00000395535.2:p.Asp46=
ENST00000460227.4:n.1249_1253delinsGATAA
ENST00000463644.5:n.1039_1043delinsGATAA
ENST00000481807.3:n.386_390delinsGATAA
ENST00000486506.5:n.2448_2452delinsGATAA
ENST00000488293.4:n.1149_1153delinsGATAA
ENST00000496908.5:n.231_235delinsGATAA
ENST00000611468.1:c.88_92delinsGATAA	ENSP00000479736.1:p.Asp30=
ENST00000619732.4:c.100_104delinsGATAA	ENSP00000480973.1:p.Asp34=
ENST00000622433.4:c.88_92delinsGATAA	ENSP00000484470.1:p.Asp30=
ENST00000625300.1:n.325_329delinsGATAA
ENST00000626422.2:n.810_814delinsGATAA
ENST00000628176.2:c.100_104delinsGATAA	ENSP00000486978.1:p.Asp34=
ENST00000630151.1:c.100_104delinsGATAA	ENSP00000486089.1:p.Asp34=
ENST00000631210.1:n.379_383delinsGATAA
NM_001110792.1:c.136_140delinsGATAA	NP_001104262.1:p.Asp46=
NM_001316337.1:c.-180_-176delinsGATAA	NP_001303266.1:n.-180_-176delinsGATAA
NM_004992.3:c.100_104delinsGATAA	NP_004983.1:p.Asp34=
XM_005274681.3:c.100_104delinsGATAA	XP_005274738.1:p.Asp34=
XM_005274682.3:c.-180_-176delinsGATAA	XP_005274739.1:n.-180_-176delinsGATAA
XM_005274683.3:c.-180_-176delinsGATAA	XP_005274740.1:n.-180_-176delinsGATAA
XM_011531166.1:c.-180_-176delinsGATAA	XP_011529468.1:n.-180_-176delinsGATAA
XM_006724819.3:c.-461_-457delinsGATAA	XP_006724882.1:n.-461_-457delinsGATAA
XM_011531166.2:c.-180_-176delinsGATAA	XP_011529468.1:n.-180_-176delinsGATAA
XM_024452383.1:c.-180_-176delinsGATAA	XP_024308151.1:n.-180_-176delinsGATAA
XM_024452384.1:c.-180_-176delinsGATAA	XP_024308152.1:n.-180_-176delinsGATAA
NM_001110792.2:c.136_140delinsGATAA MANE Select	NP_001104262.1:p.Asp46=
NM_001316337.2:c.-180_-176delinsGATAA	NP_001303266.1:n.-180_-176delinsGATAA
NM_001369391.2:c.-180_-176delinsGATAA	NP_001356320.1:n.-180_-176delinsGATAA
NM_001369392.2:c.-180_-176delinsGATAA	NP_001356321.1:n.-180_-176delinsGATAA
NM_001369393.2:c.-180_-176delinsGATAA	NP_001356322.1:n.-180_-176delinsGATAA
NM_001369394.1:c.-180_-176delinsGATAA	NP_001356323.1:n.-180_-176delinsGATAA
NM_001369394.2:c.-180_-176delinsGATAA	NP_001356323.1:n.-180_-176delinsGATAA
NM_001386137.1:c.-461_-457delinsGATAA	NP_001373066.1:n.-461_-457delinsGATAA
NM_001386138.1:c.-461_-457delinsGATAA	NP_001373067.1:n.-461_-457delinsGATAA
NM_001386139.1:c.-461_-457delinsGATAA	NP_001373068.1:n.-461_-457delinsGATAA
NM_004992.4:c.100_104delinsGATAA MANE Plus Clinical	NP_004983.1:p.Asp34=