Canonical Allele Identifier: CA2695100355
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032475_154032477dup , CM000685.2:g.154032475_154032477dup GRCh38
NC_000023.10:g.153297926_153297928dup , CM000685.1:g.153297926_153297928dup GRCh37
NC_000023.9:g.152951120_152951122dup NCBI36
NG_007107.2:g.109655_109657dup
NG_007107.3:g.109631_109633dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.111_113dup MANE Plus Clinical ENSP00000301948.6:p.Glu38_Lys39insGlu
ENST00000453960.7:c.147_149dup MANE Select ENSP00000395535.2:p.Glu50_Lys51insGlu
ENST00000611468.2:n.359_361dup
ENST00000630151.2:c.111_113dup ENSP00000486089.1:p.Glu38_Lys39insGlu
ENST00000676382.1:n.304_306dup
ENST00000303391.10:c.111_113dup ENSP00000301948.6:p.Glu38_Lys39insGlu
ENST00000369957.5:c.*165_*167dup ENSP00000358973.4:n.*165_*167dup
ENST00000407218.5:c.147_149dup ENSP00000384865.2:p.Glu50_Lys51insGlu
ENST00000415944.3:c.111_113dup ENSP00000416267.1:p.Glu38_Lys39insGlu
ENST00000453960.6:c.147_149dup ENSP00000395535.2:p.Glu50_Lys51insGlu
ENST00000460227.4:n.1260_1262dup
ENST00000463644.5:n.1050_1052dup
ENST00000481807.3:n.397_399dup
ENST00000486506.5:n.2459_2461dup
ENST00000488293.4:n.1160_1162dup
ENST00000496908.5:n.242_244dup
ENST00000611468.1:c.99_101dup ENSP00000479736.1:p.Glu34_Lys35insGlu
ENST00000619732.4:c.111_113dup ENSP00000480973.1:p.Glu38_Lys39insGlu
ENST00000622433.4:c.99_101dup ENSP00000484470.1:p.Glu34_Lys35insGlu
ENST00000625300.1:n.336_338dup
ENST00000626422.2:n.821_823dup
ENST00000628176.2:c.111_113dup ENSP00000486978.1:p.Glu38_Lys39insGlu
ENST00000630151.1:c.111_113dup ENSP00000486089.1:p.Glu38_Lys39insGlu
ENST00000631210.1:n.390_392dup
NM_001110792.1:c.147_149dup NP_001104262.1:p.Glu50_Lys51insGlu
NM_001316337.1:c.-169_-167dup NP_001303266.1:n.-169_-167dup
NM_004992.3:c.111_113dup NP_004983.1:p.Glu38_Lys39insGlu
XM_005274681.3:c.111_113dup XP_005274738.1:p.Glu38_Lys39insGlu
XM_005274682.3:c.-169_-167dup XP_005274739.1:n.-169_-167dup
XM_005274683.3:c.-169_-167dup XP_005274740.1:n.-169_-167dup
XM_011531166.1:c.-169_-167dup XP_011529468.1:n.-169_-167dup
XM_006724819.3:c.-450_-448dup XP_006724882.1:n.-450_-448dup
XM_011531166.2:c.-169_-167dup XP_011529468.1:n.-169_-167dup
XM_024452383.1:c.-169_-167dup XP_024308151.1:n.-169_-167dup
XM_024452384.1:c.-169_-167dup XP_024308152.1:n.-169_-167dup
NM_001110792.2:c.147_149dup MANE Select NP_001104262.1:p.Glu50_Lys51insGlu
NM_001316337.2:c.-169_-167dup NP_001303266.1:n.-169_-167dup
NM_001369391.2:c.-169_-167dup NP_001356320.1:n.-169_-167dup
NM_001369392.2:c.-169_-167dup NP_001356321.1:n.-169_-167dup
NM_001369393.2:c.-169_-167dup NP_001356322.1:n.-169_-167dup
NM_001369394.1:c.-169_-167dup NP_001356323.1:n.-169_-167dup
NM_001369394.2:c.-169_-167dup NP_001356323.1:n.-169_-167dup
NM_001386137.1:c.-450_-448dup NP_001373066.1:n.-450_-448dup
NM_001386138.1:c.-450_-448dup NP_001373067.1:n.-450_-448dup
NM_001386139.1:c.-450_-448dup NP_001373068.1:n.-450_-448dup
NM_004992.4:c.111_113dup MANE Plus Clinical NP_004983.1:p.Glu38_Lys39insGlu