Canonical Allele Identifier: CA2695237611
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031360dup , CM000685.2:g.154031360dup GRCh38
NC_000023.10:g.153296811dup , CM000685.1:g.153296811dup GRCh37
NC_000023.9:g.152950005dup NCBI36
NG_007107.2:g.110768dup
NG_007107.3:g.110744dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.468dup MANE Plus Clinical ENSP00000301948.6:p.Phe157LeufsTer18
ENST00000453960.7:c.504dup MANE Select ENSP00000395535.2:p.Phe169LeufsTer18
ENST00000637917.1:c.65+36dup
ENST00000303391.10:c.468dup ENSP00000301948.6:p.Phe157LeufsTer18
ENST00000407218.5:c.468+36dup ENSP00000384865.2:n.468+36dup
ENST00000453960.6:c.504dup ENSP00000395535.2:p.Phe169LeufsTer18
ENST00000486506.5:n.2816dup
ENST00000611468.1:c.456dup ENSP00000479736.1:p.Phe153LeufsTer?
ENST00000619732.4:c.468dup ENSP00000480973.1:p.Phe157LeufsTer18
ENST00000622433.4:c.456dup ENSP00000484470.1:p.Phe153LeufsTer18
ENST00000628176.2:c.432+36dup ENSP00000486978.1:n.432+36dup
NM_001110792.1:c.504dup NP_001104262.1:p.Phe169LeufsTer18
NM_001316337.1:c.189dup NP_001303266.1:p.Phe64LeufsTer18
NM_004992.3:c.468dup NP_004983.1:p.Phe157LeufsTer18
XM_005274681.3:c.468dup XP_005274738.1:p.Phe157LeufsTer18
XM_005274682.3:c.189dup XP_005274739.1:p.Phe64LeufsTer18
XM_005274683.3:c.189dup XP_005274740.1:p.Phe64LeufsTer18
XM_006724819.2:c.-129+36dup XP_006724882.1:n.-129+36dup
XM_011531166.1:c.189dup XP_011529468.1:p.Phe64LeufsTer18
XM_006724819.3:c.-129+36dup XP_006724882.1:n.-129+36dup
XM_011531166.2:c.189dup XP_011529468.1:p.Phe64LeufsTer18
XM_024452383.1:c.189dup XP_024308151.1:p.Phe64LeufsTer18
XM_024452384.1:c.189dup XP_024308152.1:p.Phe64LeufsTer18
NM_001110792.2:c.504dup MANE Select NP_001104262.1:p.Phe169LeufsTer18
NM_001316337.2:c.189dup NP_001303266.1:p.Phe64LeufsTer18
NM_001369391.2:c.189dup NP_001356320.1:p.Phe64LeufsTer18
NM_001369392.2:c.189dup NP_001356321.1:p.Phe64LeufsTer18
NM_001369393.2:c.189dup NP_001356322.1:p.Phe64LeufsTer18
NM_001369394.1:c.189dup NP_001356323.1:p.Phe64LeufsTer18
NM_001369394.2:c.189dup NP_001356323.1:p.Phe64LeufsTer18
NM_001386137.1:c.-129+36dup NP_001373066.1:n.-129+36dup
NM_001386138.1:c.-129+36dup NP_001373067.1:n.-129+36dup
NM_001386139.1:c.-129+36dup NP_001373068.1:n.-129+36dup
NM_004992.4:c.468dup MANE Plus Clinical NP_004983.1:p.Phe157LeufsTer18