Canonical Allele Identifier: CA1139667836

Gene: MECP2

Linked Data

• ClinVar Variation Id: 987009
• ClinVar RCV Id: RCV001268210
• dbSNP Id: rs2065987178

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154032374_154032375insT , CM000685.2:g.154032374_154032375insT	GRCh38
NC_000023.10:g.153297825_153297826insT , CM000685.1:g.153297825_153297826insT	GRCh37
NC_000023.9:g.152951019_152951020insT	NCBI36
NG_007107.2:g.109753_109754insA
NG_007107.3:g.109729_109730insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.209_210insA MANE Plus Clinical	ENSP00000301948.6:p.Ala71ArgfsTer20
ENST00000453960.7:c.245_246insA MANE Select	ENSP00000395535.2:p.Ala83ArgfsTer20
ENST00000303391.10:c.209_210insA	ENSP00000301948.6:p.Ala71ArgfsTer20
ENST00000369957.5:c.*263_*264insA	ENSP00000358973.4:n.*263_*264insA
ENST00000407218.5:c.245_246insA	ENSP00000384865.2:p.Ala83ArgfsTer20
ENST00000453960.6:c.245_246insA	ENSP00000395535.2:p.Ala83ArgfsTer20
ENST00000486506.5:n.2557_2558insA
ENST00000496908.5:n.340_341insA
ENST00000611468.1:c.197_198insA	ENSP00000479736.1:p.Ala67ArgfsTer20
ENST00000619732.4:c.209_210insA	ENSP00000480973.1:p.Ala71ArgfsTer20
ENST00000622433.4:c.197_198insA	ENSP00000484470.1:p.Ala67ArgfsTer20
ENST00000628176.2:c.209_210insA	ENSP00000486978.1:p.Ala71ArgfsTer20
ENST00000631210.1:n.488_489insA
NM_001110792.1:c.245_246insA	NP_001104262.1:p.Ala83ArgfsTer20
NM_001316337.1:c.-71_-70insA	NP_001303266.1:n.-71_-70insA
NM_004992.3:c.209_210insA	NP_004983.1:p.Ala71ArgfsTer20
XM_005274681.3:c.209_210insA	XP_005274738.1:p.Ala71ArgfsTer20
XM_005274682.3:c.-71_-70insA	XP_005274739.1:n.-71_-70insA
XM_005274683.3:c.-71_-70insA	XP_005274740.1:n.-71_-70insA
XM_011531166.1:c.-71_-70insA	XP_011529468.1:n.-71_-70insA
XM_006724819.3:c.-352_-351insA	XP_006724882.1:n.-352_-351insA
XM_011531166.2:c.-71_-70insA	XP_011529468.1:n.-71_-70insA
XM_024452383.1:c.-71_-70insA	XP_024308151.1:n.-71_-70insA
XM_024452384.1:c.-71_-70insA	XP_024308152.1:n.-71_-70insA
NM_001110792.2:c.245_246insA MANE Select	NP_001104262.1:p.Ala83ArgfsTer20
NM_001316337.2:c.-71_-70insA	NP_001303266.1:n.-71_-70insA
NM_001369391.2:c.-71_-70insA	NP_001356320.1:n.-71_-70insA
NM_001369392.2:c.-71_-70insA	NP_001356321.1:n.-71_-70insA
NM_001369393.2:c.-71_-70insA	NP_001356322.1:n.-71_-70insA
NM_001369394.1:c.-71_-70insA	NP_001356323.1:n.-71_-70insA
NM_001369394.2:c.-71_-70insA	NP_001356323.1:n.-71_-70insA
NM_001386137.1:c.-352_-351insA	NP_001373066.1:n.-352_-351insA
NM_001386138.1:c.-352_-351insA	NP_001373067.1:n.-352_-351insA
NM_001386139.1:c.-352_-351insA	NP_001373068.1:n.-352_-351insA
NM_004992.4:c.209_210insA MANE Plus Clinical	NP_004983.1:p.Ala71ArgfsTer20