Canonical Allele Identifier: CA2695237627
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032247dup , CM000685.2:g.154032247dup GRCh38
NC_000023.10:g.153297698dup , CM000685.1:g.153297698dup GRCh37
NC_000023.9:g.152950892dup NCBI36
NG_007107.2:g.109881dup
NG_007107.3:g.109857dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.337dup MANE Plus Clinical ENSP00000301948.6:p.Ser113PhefsTer9
ENST00000453960.7:c.373dup MANE Select ENSP00000395535.2:p.Ser125PhefsTer9
ENST00000303391.10:c.337dup ENSP00000301948.6:p.Ser113PhefsTer9
ENST00000369957.5:c.*391dup ENSP00000358973.4:n.*391dup
ENST00000407218.5:c.373dup ENSP00000384865.2:p.Ser125PhefsTer9
ENST00000453960.6:c.373dup ENSP00000395535.2:p.Ser125PhefsTer9
ENST00000486506.5:n.2685dup
ENST00000611468.1:c.325dup ENSP00000479736.1:p.Ser109PhefsTer9
ENST00000619732.4:c.337dup ENSP00000480973.1:p.Ser113PhefsTer9
ENST00000622433.4:c.325dup ENSP00000484470.1:p.Ser109PhefsTer9
ENST00000628176.2:c.337dup ENSP00000486978.1:p.Ser113PhefsTer9
NM_001110792.1:c.373dup NP_001104262.1:p.Ser125PhefsTer9
NM_001316337.1:c.58dup NP_001303266.1:p.Ser20PhefsTer9
NM_004992.3:c.337dup NP_004983.1:p.Ser113PhefsTer9
XM_005274681.3:c.337dup XP_005274738.1:p.Ser113PhefsTer9
XM_005274682.3:c.58dup XP_005274739.1:p.Ser20PhefsTer9
XM_005274683.3:c.58dup XP_005274740.1:p.Ser20PhefsTer9
XM_011531166.1:c.58dup XP_011529468.1:p.Ser20PhefsTer9
XM_006724819.3:c.-224dup XP_006724882.1:n.-224dup
XM_011531166.2:c.58dup XP_011529468.1:p.Ser20PhefsTer9
XM_024452383.1:c.58dup XP_024308151.1:p.Ser20PhefsTer9
XM_024452384.1:c.58dup XP_024308152.1:p.Ser20PhefsTer9
NM_001110792.2:c.373dup MANE Select NP_001104262.1:p.Ser125PhefsTer9
NM_001316337.2:c.58dup NP_001303266.1:p.Ser20PhefsTer9
NM_001369391.2:c.58dup NP_001356320.1:p.Ser20PhefsTer9
NM_001369392.2:c.58dup NP_001356321.1:p.Ser20PhefsTer9
NM_001369393.2:c.58dup NP_001356322.1:p.Ser20PhefsTer9
NM_001369394.1:c.58dup NP_001356323.1:p.Ser20PhefsTer9
NM_001369394.2:c.58dup NP_001356323.1:p.Ser20PhefsTer9
NM_001386137.1:c.-224dup NP_001373066.1:n.-224dup
NM_001386138.1:c.-224dup NP_001373067.1:n.-224dup
NM_001386139.1:c.-224dup NP_001373068.1:n.-224dup
NM_004992.4:c.337dup MANE Plus Clinical NP_004983.1:p.Ser113PhefsTer9