Canonical Allele Identifier: CA2466571638

Gene: MECP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032472_154032476delinsCTTCT , CM000685.2:g.154032472_154032476delinsCTTCT	GRCh38
NC_000023.10:g.153297923_153297927delinsCTTCT , CM000685.1:g.153297923_153297927delinsCTTCT	GRCh37
NC_000023.9:g.152951117_152951121delinsCTTCT	NCBI36
NG_007107.2:g.109652_109656delinsAGAAG
NG_007107.3:g.109628_109632delinsAGAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.108_112delinsAGAAG MANE Plus Clinical	ENSP00000301948.6:p.Lys36=
ENST00000453960.7:c.144_148delinsAGAAG MANE Select	ENSP00000395535.2:p.Lys48=
ENST00000611468.2:n.356_360delinsAGAAG
ENST00000630151.2:c.108_112delinsAGAAG	ENSP00000486089.1:p.Lys36=
ENST00000676382.1:n.301_305delinsAGAAG
ENST00000303391.10:c.108_112delinsAGAAG	ENSP00000301948.6:p.Lys36=
ENST00000369957.5:c.*162_*166delinsAGAAG	ENSP00000358973.4:n.*162_*166delinsAGAAG
ENST00000407218.5:c.144_148delinsAGAAG	ENSP00000384865.2:p.Lys48=
ENST00000415944.3:c.108_112delinsAGAAG	ENSP00000416267.1:p.Lys36=
ENST00000453960.6:c.144_148delinsAGAAG	ENSP00000395535.2:p.Lys48=
ENST00000460227.4:n.1257_1261delinsAGAAG
ENST00000463644.5:n.1047_1051delinsAGAAG
ENST00000481807.3:n.394_398delinsAGAAG
ENST00000486506.5:n.2456_2460delinsAGAAG
ENST00000488293.4:n.1157_1161delinsAGAAG
ENST00000496908.5:n.239_243delinsAGAAG
ENST00000611468.1:c.96_100delinsAGAAG	ENSP00000479736.1:p.Lys32=
ENST00000619732.4:c.108_112delinsAGAAG	ENSP00000480973.1:p.Lys36=
ENST00000622433.4:c.96_100delinsAGAAG	ENSP00000484470.1:p.Lys32=
ENST00000625300.1:n.333_337delinsAGAAG
ENST00000626422.2:n.818_822delinsAGAAG
ENST00000628176.2:c.108_112delinsAGAAG	ENSP00000486978.1:p.Lys36=
ENST00000630151.1:c.108_112delinsAGAAG	ENSP00000486089.1:p.Lys36=
ENST00000631210.1:n.387_391delinsAGAAG
NM_001110792.1:c.144_148delinsAGAAG	NP_001104262.1:p.Lys48=
NM_001316337.1:c.-172_-168delinsAGAAG	NP_001303266.1:n.-172_-168delinsAGAAG
NM_004992.3:c.108_112delinsAGAAG	NP_004983.1:p.Lys36=
XM_005274681.3:c.108_112delinsAGAAG	XP_005274738.1:p.Lys36=
XM_005274682.3:c.-172_-168delinsAGAAG	XP_005274739.1:n.-172_-168delinsAGAAG
XM_005274683.3:c.-172_-168delinsAGAAG	XP_005274740.1:n.-172_-168delinsAGAAG
XM_011531166.1:c.-172_-168delinsAGAAG	XP_011529468.1:n.-172_-168delinsAGAAG
XM_006724819.3:c.-453_-449delinsAGAAG	XP_006724882.1:n.-453_-449delinsAGAAG
XM_011531166.2:c.-172_-168delinsAGAAG	XP_011529468.1:n.-172_-168delinsAGAAG
XM_024452383.1:c.-172_-168delinsAGAAG	XP_024308151.1:n.-172_-168delinsAGAAG
XM_024452384.1:c.-172_-168delinsAGAAG	XP_024308152.1:n.-172_-168delinsAGAAG
NM_001110792.2:c.144_148delinsAGAAG MANE Select	NP_001104262.1:p.Lys48=
NM_001316337.2:c.-172_-168delinsAGAAG	NP_001303266.1:n.-172_-168delinsAGAAG
NM_001369391.2:c.-172_-168delinsAGAAG	NP_001356320.1:n.-172_-168delinsAGAAG
NM_001369392.2:c.-172_-168delinsAGAAG	NP_001356321.1:n.-172_-168delinsAGAAG
NM_001369393.2:c.-172_-168delinsAGAAG	NP_001356322.1:n.-172_-168delinsAGAAG
NM_001369394.1:c.-172_-168delinsAGAAG	NP_001356323.1:n.-172_-168delinsAGAAG
NM_001369394.2:c.-172_-168delinsAGAAG	NP_001356323.1:n.-172_-168delinsAGAAG
NM_001386137.1:c.-453_-449delinsAGAAG	NP_001373066.1:n.-453_-449delinsAGAAG
NM_001386138.1:c.-453_-449delinsAGAAG	NP_001373067.1:n.-453_-449delinsAGAAG
NM_001386139.1:c.-453_-449delinsAGAAG	NP_001373068.1:n.-453_-449delinsAGAAG
NM_004992.4:c.108_112delinsAGAAG MANE Plus Clinical	NP_004983.1:p.Lys36=