Canonical Allele Identifier: CA2544964934
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154029350_154029351insGG , CM000685.2:g.154029350_154029351insGG GRCh38
NC_000023.10:g.153294801_153294802insGG , CM000685.1:g.153294801_153294802insGG GRCh37
NC_000023.9:g.152947995_152947996insGG NCBI36
NG_007107.2:g.112777_112778insCC
NG_007107.3:g.112753_112754insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.*1016_*1017insCC MANE Plus Clinical ENSP00000301948.6:n.*1016_*1017insCC
ENST00000453960.7:c.*1016_*1017insCC MANE Select ENSP00000395535.2:n.*1016_*1017insCC
ENST00000303391.10:c.*1016_*1017insCC ENSP00000301948.6:n.*1016_*1017insCC
ENST00000619732.4:c.*943_*944insCC ENSP00000480973.1:n.*943_*944insCC
NM_004992.3:c.*1016_*1017insCC NP_004983.1:n.*1016_*1017insCC
XM_005274681.3:c.*1016_*1017insCC XP_005274738.1:n.*1016_*1017insCC
XM_005274682.3:c.*1016_*1017insCC XP_005274739.1:n.*1016_*1017insCC
XM_005274683.3:c.*1016_*1017insCC XP_005274740.1:n.*1016_*1017insCC
XM_006724819.2:c.*1016_*1017insCC XP_006724882.1:n.*1016_*1017insCC
XM_011531166.1:c.*1016_*1017insCC XP_011529468.1:n.*1016_*1017insCC
XM_006724819.3:c.*1016_*1017insCC XP_006724882.1:n.*1016_*1017insCC
XM_011531166.2:c.*1016_*1017insCC XP_011529468.1:n.*1016_*1017insCC
XM_024452383.1:c.*1016_*1017insCC XP_024308151.1:n.*1016_*1017insCC
XM_024452384.1:c.*1016_*1017insCC XP_024308152.1:n.*1016_*1017insCC
NM_001110792.2:c.*1016_*1017insCC MANE Select NP_001104262.1:n.*1016_*1017insCC
NM_001316337.2:c.*1016_*1017insCC NP_001303266.1:n.*1016_*1017insCC
NM_001369391.2:c.*1016_*1017insCC NP_001356320.1:n.*1016_*1017insCC
NM_001369392.2:c.*1016_*1017insCC NP_001356321.1:n.*1016_*1017insCC
NM_001369393.2:c.*1016_*1017insCC NP_001356322.1:n.*1016_*1017insCC
NM_001369394.2:c.*1016_*1017insCC NP_001356323.1:n.*1016_*1017insCC
NM_001386137.1:c.*1016_*1017insCC NP_001373066.1:n.*1016_*1017insCC
NM_001386138.1:c.*1016_*1017insCC NP_001373067.1:n.*1016_*1017insCC
NM_001386139.1:c.*1016_*1017insCC NP_001373068.1:n.*1016_*1017insCC
NM_004992.4:c.*1016_*1017insCC MANE Plus Clinical NP_004983.1:n.*1016_*1017insCC