Canonical Allele Identifier: CA2695237610
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031360_154031364del , CM000685.2:g.154031360_154031364del GRCh38
NC_000023.10:g.153296811_153296815del , CM000685.1:g.153296811_153296815del GRCh37
NC_000023.9:g.152950005_152950009del NCBI36
NG_007107.2:g.110766_110770del
NG_007107.3:g.110742_110746del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.466_470del MANE Plus Clinical ENSP00000301948.6:p.Asp156HisfsTer17
ENST00000453960.7:c.502_506del MANE Select ENSP00000395535.2:p.Asp168HisfsTer17
ENST00000637917.1:c.65+34_65+38del
ENST00000303391.10:c.466_470del ENSP00000301948.6:p.Asp156HisfsTer17
ENST00000407218.5:c.468+34_468+38del ENSP00000384865.2:n.468+34_468+38del
ENST00000453960.6:c.502_506del ENSP00000395535.2:p.Asp168HisfsTer17
ENST00000486506.5:n.2814_2818del
ENST00000611468.1:c.454_458del ENSP00000479736.1:p.Asp152HisfsTer?
ENST00000619732.4:c.466_470del ENSP00000480973.1:p.Asp156HisfsTer17
ENST00000622433.4:c.454_458del ENSP00000484470.1:p.Asp152HisfsTer17
ENST00000628176.2:c.432+34_432+38del ENSP00000486978.1:n.432+34_432+38del
NM_001110792.1:c.502_506del NP_001104262.1:p.Asp168HisfsTer17
NM_001316337.1:c.187_191del NP_001303266.1:p.Asp63HisfsTer17
NM_004992.3:c.466_470del NP_004983.1:p.Asp156HisfsTer17
XM_005274681.3:c.466_470del XP_005274738.1:p.Asp156HisfsTer17
XM_005274682.3:c.187_191del XP_005274739.1:p.Asp63HisfsTer17
XM_005274683.3:c.187_191del XP_005274740.1:p.Asp63HisfsTer17
XM_006724819.2:c.-129+34_-129+38del XP_006724882.1:n.-129+34_-129+38del
XM_011531166.1:c.187_191del XP_011529468.1:p.Asp63HisfsTer17
XM_006724819.3:c.-129+34_-129+38del XP_006724882.1:n.-129+34_-129+38del
XM_011531166.2:c.187_191del XP_011529468.1:p.Asp63HisfsTer17
XM_024452383.1:c.187_191del XP_024308151.1:p.Asp63HisfsTer17
XM_024452384.1:c.187_191del XP_024308152.1:p.Asp63HisfsTer17
NM_001110792.2:c.502_506del MANE Select NP_001104262.1:p.Asp168HisfsTer17
NM_001316337.2:c.187_191del NP_001303266.1:p.Asp63HisfsTer17
NM_001369391.2:c.187_191del NP_001356320.1:p.Asp63HisfsTer17
NM_001369392.2:c.187_191del NP_001356321.1:p.Asp63HisfsTer17
NM_001369393.2:c.187_191del NP_001356322.1:p.Asp63HisfsTer17
NM_001369394.1:c.187_191del NP_001356323.1:p.Asp63HisfsTer17
NM_001369394.2:c.187_191del NP_001356323.1:p.Asp63HisfsTer17
NM_001386137.1:c.-129+34_-129+38del NP_001373066.1:n.-129+34_-129+38del
NM_001386138.1:c.-129+34_-129+38del NP_001373067.1:n.-129+34_-129+38del
NM_001386139.1:c.-129+34_-129+38del NP_001373068.1:n.-129+34_-129+38del
NM_004992.4:c.466_470del MANE Plus Clinical NP_004983.1:p.Asp156HisfsTer17