Canonical Allele Identifier: CA2466571630
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032463_154032465delinsCCT , CM000685.2:g.154032463_154032465delinsCCT GRCh38
NC_000023.10:g.153297914_153297916delinsCCT , CM000685.1:g.153297914_153297916delinsCCT GRCh37
NC_000023.9:g.152951108_152951110delinsCCT NCBI36
NG_007107.2:g.109663_109665delinsAGG
NG_007107.3:g.109639_109641delinsAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.119_121delinsAGG MANE Plus Clinical ENSP00000301948.6:p.Glu40=
ENST00000453960.7:c.155_157delinsAGG MANE Select ENSP00000395535.2:p.Glu52=
ENST00000630151.2:c.119_121delinsAGG ENSP00000486089.1:p.Glu40=
ENST00000303391.10:c.119_121delinsAGG ENSP00000301948.6:p.Glu40=
ENST00000369957.5:c.*173_*175delinsAGG ENSP00000358973.4:n.*173_*175delinsAGG
ENST00000407218.5:c.155_157delinsAGG ENSP00000384865.2:p.Glu52=
ENST00000415944.3:c.119_121delinsAGG ENSP00000416267.1:p.Glu40=
ENST00000453960.6:c.155_157delinsAGG ENSP00000395535.2:p.Glu52=
ENST00000460227.4:n.1268_1270delinsAGG
ENST00000463644.5:n.1058_1060delinsAGG
ENST00000481807.3:n.405_407delinsAGG
ENST00000486506.5:n.2467_2469delinsAGG
ENST00000488293.4:n.1168_1170delinsAGG
ENST00000496908.5:n.250_252delinsAGG
ENST00000611468.1:c.107_109delinsAGG ENSP00000479736.1:p.Glu36=
ENST00000619732.4:c.119_121delinsAGG ENSP00000480973.1:p.Glu40=
ENST00000622433.4:c.107_109delinsAGG ENSP00000484470.1:p.Glu36=
ENST00000625300.1:n.344_346delinsAGG
ENST00000626422.2:n.829_831delinsAGG
ENST00000628176.2:c.119_121delinsAGG ENSP00000486978.1:p.Glu40=
ENST00000630151.1:c.119_121delinsAGG ENSP00000486089.1:p.Glu40=
ENST00000631210.1:n.398_400delinsAGG
NM_001110792.1:c.155_157delinsAGG NP_001104262.1:p.Glu52=
NM_001316337.1:c.-161_-159delinsAGG NP_001303266.1:n.-161_-159delinsAGG
NM_004992.3:c.119_121delinsAGG NP_004983.1:p.Glu40=
XM_005274681.3:c.119_121delinsAGG XP_005274738.1:p.Glu40=
XM_005274682.3:c.-161_-159delinsAGG XP_005274739.1:n.-161_-159delinsAGG
XM_005274683.3:c.-161_-159delinsAGG XP_005274740.1:n.-161_-159delinsAGG
XM_011531166.1:c.-161_-159delinsAGG XP_011529468.1:n.-161_-159delinsAGG
XM_006724819.3:c.-442_-440delinsAGG XP_006724882.1:n.-442_-440delinsAGG
XM_011531166.2:c.-161_-159delinsAGG XP_011529468.1:n.-161_-159delinsAGG
XM_024452383.1:c.-161_-159delinsAGG XP_024308151.1:n.-161_-159delinsAGG
XM_024452384.1:c.-161_-159delinsAGG XP_024308152.1:n.-161_-159delinsAGG
NM_001110792.2:c.155_157delinsAGG MANE Select NP_001104262.1:p.Glu52=
NM_001316337.2:c.-161_-159delinsAGG NP_001303266.1:n.-161_-159delinsAGG
NM_001369391.2:c.-161_-159delinsAGG NP_001356320.1:n.-161_-159delinsAGG
NM_001369392.2:c.-161_-159delinsAGG NP_001356321.1:n.-161_-159delinsAGG
NM_001369393.2:c.-161_-159delinsAGG NP_001356322.1:n.-161_-159delinsAGG
NM_001369394.1:c.-161_-159delinsAGG NP_001356323.1:n.-161_-159delinsAGG
NM_001369394.2:c.-161_-159delinsAGG NP_001356323.1:n.-161_-159delinsAGG
NM_001386137.1:c.-442_-440delinsAGG NP_001373066.1:n.-442_-440delinsAGG
NM_001386138.1:c.-442_-440delinsAGG NP_001373067.1:n.-442_-440delinsAGG
NM_001386139.1:c.-442_-440delinsAGG NP_001373068.1:n.-442_-440delinsAGG
NM_004992.4:c.119_121delinsAGG MANE Plus Clinical NP_004983.1:p.Glu40=