Canonical Allele Identifier: CA2466594803

Gene: MECP2

Linked Data

• dbSNP Id: rs2066906960

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097660_154097665dup , CM000685.2:g.154097660_154097665dup	GRCh38
NC_000023.10:g.153363117_153363122dup , CM000685.1:g.153363117_153363122dup	GRCh37
NC_000023.9:g.153016311_153016316dup	NCBI36
NG_007107.2:g.44457_44462dup
NG_007107.3:g.44439_44444dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-160_-155dup MANE Plus Clinical	ENSP00000301948.6:n.-160_-155dup
ENST00000453960.7:c.1_6dup MANE Select	ENSP00000395535.2:p.Ala2_Ala3insMetAla
ENST00000303391.10:c.-160_-155dup	ENSP00000301948.6:n.-160_-155dup
ENST00000407218.5:c.1_6dup	ENSP00000384865.2:p.Ala2_Ala3insMetAla
ENST00000453960.6:c.1_6dup	ENSP00000395535.2:p.Ala2_Ala3insMetAla
ENST00000619732.4:c.-160_-155dup	ENSP00000480973.1:n.-160_-155dup
ENST00000627864.1:n.16_21dup
ENST00000628176.2:c.-160_-155dup	ENSP00000486978.1:n.-160_-155dup
ENST00000631210.1:n.305+7116_305+7121dup
NM_001110792.1:c.1_6dup	NP_001104262.1:p.Ala2_Ala3insMetAla
NM_001316337.1:c.-607_-602dup	NP_001303266.1:n.-607_-602dup
NM_004992.3:c.-160_-155dup	NP_004983.1:n.-160_-155dup
XM_005274682.3:c.-551_-546dup	XP_005274739.1:n.-551_-546dup
NM_001110792.2:c.1_6dup MANE Select	NP_001104262.1:p.Ala2_Ala3insMetAla
NM_001316337.2:c.-607_-602dup	NP_001303266.1:n.-607_-602dup
NM_001369391.2:c.-902_-897dup	NP_001356320.1:n.-902_-897dup
NM_001369392.2:c.-551_-546dup	NP_001356321.1:n.-551_-546dup
NM_001369393.2:c.-427_-422dup	NP_001356322.1:n.-427_-422dup
NM_001386137.1:c.-832_-827dup	NP_001373066.1:n.-832_-827dup
NM_001386138.1:c.-720_-715dup	NP_001373067.1:n.-720_-715dup
NM_001386139.1:c.-596_-591dup	NP_001373068.1:n.-596_-591dup
NM_004992.4:c.-160_-155dup MANE Plus Clinical	NP_004983.1:n.-160_-155dup