Canonical Allele Identifier: CA2695202119
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3066402
ClinVar RCV Id: RCV003991406

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031441dup , CM000685.2:g.154031441dup GRCh38
NC_000023.10:g.153296892dup , CM000685.1:g.153296892dup GRCh37
NC_000023.9:g.152950086dup NCBI36
NG_007107.2:g.110690dup
NG_007107.3:g.110666dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.390dup MANE Plus Clinical ENSP00000301948.6:p.Ala131SerfsTer5
ENST00000453960.7:c.426dup MANE Select ENSP00000395535.2:p.Ala143SerfsTer5
ENST00000637917.1:c.23dup
ENST00000303391.10:c.390dup ENSP00000301948.6:p.Ala131SerfsTer5
ENST00000369957.5:c.*444dup ENSP00000358973.4:n.*444dup
ENST00000407218.5:c.426dup ENSP00000384865.2:p.Ala143SerfsTer5
ENST00000453960.6:c.426dup ENSP00000395535.2:p.Ala143SerfsTer5
ENST00000486506.5:n.2738dup
ENST00000611468.1:c.378dup ENSP00000479736.1:p.Ala127SerfsTer5
ENST00000619732.4:c.390dup ENSP00000480973.1:p.Ala131SerfsTer5
ENST00000622433.4:c.378dup ENSP00000484470.1:p.Ala127SerfsTer5
ENST00000628176.2:c.390dup ENSP00000486978.1:p.Ala131SerfsTer5
NM_001110792.1:c.426dup NP_001104262.1:p.Ala143SerfsTer5
NM_001316337.1:c.111dup NP_001303266.1:p.Ala38SerfsTer5
NM_004992.3:c.390dup NP_004983.1:p.Ala131SerfsTer5
XM_005274681.3:c.390dup XP_005274738.1:p.Ala131SerfsTer5
XM_005274682.3:c.111dup XP_005274739.1:p.Ala38SerfsTer5
XM_005274683.3:c.111dup XP_005274740.1:p.Ala38SerfsTer5
XM_006724819.2:c.-171dup XP_006724882.1:n.-171dup
XM_011531166.1:c.111dup XP_011529468.1:p.Ala38SerfsTer5
XM_006724819.3:c.-171dup XP_006724882.1:n.-171dup
XM_011531166.2:c.111dup XP_011529468.1:p.Ala38SerfsTer5
XM_024452383.1:c.111dup XP_024308151.1:p.Ala38SerfsTer5
XM_024452384.1:c.111dup XP_024308152.1:p.Ala38SerfsTer5
NM_001110792.2:c.426dup MANE Select NP_001104262.1:p.Ala143SerfsTer5
NM_001316337.2:c.111dup NP_001303266.1:p.Ala38SerfsTer5
NM_001369391.2:c.111dup NP_001356320.1:p.Ala38SerfsTer5
NM_001369392.2:c.111dup NP_001356321.1:p.Ala38SerfsTer5
NM_001369393.2:c.111dup NP_001356322.1:p.Ala38SerfsTer5
NM_001369394.1:c.111dup NP_001356323.1:p.Ala38SerfsTer5
NM_001369394.2:c.111dup NP_001356323.1:p.Ala38SerfsTer5
NM_001386137.1:c.-171dup NP_001373066.1:n.-171dup
NM_001386138.1:c.-171dup NP_001373067.1:n.-171dup
NM_001386139.1:c.-171dup NP_001373068.1:n.-171dup
NM_004992.4:c.390dup MANE Plus Clinical NP_004983.1:p.Ala131SerfsTer5