Canonical Allele Identifier: CA2695105442

Gene: MECP2

Linked Data

• gnomAD v4: X-154097657-G-GGCGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097658_154097663dup , CM000685.2:g.154097658_154097663dup	GRCh38
NC_000023.10:g.153363115_153363120dup , CM000685.1:g.153363115_153363120dup	GRCh37
NC_000023.9:g.153016309_153016314dup	NCBI36
NG_007107.2:g.44459_44464dup
NG_007107.3:g.44441_44446dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-158_-153dup MANE Plus Clinical	ENSP00000301948.6:n.-158_-153dup
ENST00000453960.7:c.3_8dup MANE Select	ENSP00000395535.2:p.Ala3_Ala4insAlaAla
ENST00000303391.10:c.-158_-153dup	ENSP00000301948.6:n.-158_-153dup
ENST00000369957.5:c.-158_-153dup	ENSP00000358973.4:n.-158_-153dup
ENST00000407218.5:c.3_8dup	ENSP00000384865.2:p.Ala3_Ala4insAlaAla
ENST00000453960.6:c.3_8dup	ENSP00000395535.2:p.Ala3_Ala4insAlaAla
ENST00000619732.4:c.-158_-153dup	ENSP00000480973.1:n.-158_-153dup
ENST00000627864.1:n.18_23dup
ENST00000628176.2:c.-158_-153dup	ENSP00000486978.1:n.-158_-153dup
ENST00000631210.1:n.305+7118_305+7123dup
NM_001110792.1:c.3_8dup	NP_001104262.1:p.Ala3_Ala4insAlaAla
NM_001316337.1:c.-605_-600dup	NP_001303266.1:n.-605_-600dup
NM_004992.3:c.-158_-153dup	NP_004983.1:n.-158_-153dup
XM_005274682.3:c.-549_-544dup	XP_005274739.1:n.-549_-544dup
NM_001110792.2:c.3_8dup MANE Select	NP_001104262.1:p.Ala3_Ala4insAlaAla
NM_001316337.2:c.-605_-600dup	NP_001303266.1:n.-605_-600dup
NM_001369391.2:c.-900_-895dup	NP_001356320.1:n.-900_-895dup
NM_001369392.2:c.-549_-544dup	NP_001356321.1:n.-549_-544dup
NM_001369393.2:c.-425_-420dup	NP_001356322.1:n.-425_-420dup
NM_001386137.1:c.-830_-825dup	NP_001373066.1:n.-830_-825dup
NM_001386138.1:c.-718_-713dup	NP_001373067.1:n.-718_-713dup
NM_001386139.1:c.-594_-589dup	NP_001373068.1:n.-594_-589dup
NM_004992.4:c.-158_-153dup MANE Plus Clinical	NP_004983.1:n.-158_-153dup