Canonical Allele Identifier: CA2466571026
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031416_154031417delinsAC , CM000685.2:g.154031416_154031417delinsAC GRCh38
NC_000023.10:g.153296867_153296868delinsAC , CM000685.1:g.153296867_153296868delinsAC GRCh37
NC_000023.9:g.152950061_152950062delinsAC NCBI36
NG_007107.2:g.110711_110712delinsGT
NG_007107.3:g.110687_110688delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.411_412delinsGT MANE Plus Clinical ENSP00000301948.6:p.Glu137=
ENST00000453960.7:c.447_448delinsGT MANE Select ENSP00000395535.2:p.Glu149=
ENST00000637917.1:c.44_45delinsGT
ENST00000303391.10:c.411_412delinsGT ENSP00000301948.6:p.Glu137=
ENST00000369957.5:c.*465_*466delinsGT ENSP00000358973.4:n.*465_*466delinsGT
ENST00000407218.5:c.447_448delinsGT ENSP00000384865.2:p.Glu149=
ENST00000453960.6:c.447_448delinsGT ENSP00000395535.2:p.Glu149=
ENST00000486506.5:n.2759_2760delinsGT
ENST00000611468.1:c.399_400delinsGT ENSP00000479736.1:p.Glu133=
ENST00000619732.4:c.411_412delinsGT ENSP00000480973.1:p.Glu137=
ENST00000622433.4:c.399_400delinsGT ENSP00000484470.1:p.Glu133=
ENST00000628176.2:c.411_412delinsGT ENSP00000486978.1:p.Glu137=
NM_001110792.1:c.447_448delinsGT NP_001104262.1:p.Glu149=
NM_001316337.1:c.132_133delinsGT NP_001303266.1:p.Glu44=
NM_004992.3:c.411_412delinsGT NP_004983.1:p.Glu137=
XM_005274681.3:c.411_412delinsGT XP_005274738.1:p.Glu137=
XM_005274682.3:c.132_133delinsGT XP_005274739.1:p.Glu44=
XM_005274683.3:c.132_133delinsGT XP_005274740.1:p.Glu44=
XM_006724819.2:c.-150_-149delinsGT XP_006724882.1:n.-150_-149delinsGT
XM_011531166.1:c.132_133delinsGT XP_011529468.1:p.Glu44=
XM_006724819.3:c.-150_-149delinsGT XP_006724882.1:n.-150_-149delinsGT
XM_011531166.2:c.132_133delinsGT XP_011529468.1:p.Glu44=
XM_024452383.1:c.132_133delinsGT XP_024308151.1:p.Glu44=
XM_024452384.1:c.132_133delinsGT XP_024308152.1:p.Glu44=
NM_001110792.2:c.447_448delinsGT MANE Select NP_001104262.1:p.Glu149=
NM_001316337.2:c.132_133delinsGT NP_001303266.1:p.Glu44=
NM_001369391.2:c.132_133delinsGT NP_001356320.1:p.Glu44=
NM_001369392.2:c.132_133delinsGT NP_001356321.1:p.Glu44=
NM_001369393.2:c.132_133delinsGT NP_001356322.1:p.Glu44=
NM_001369394.1:c.132_133delinsGT NP_001356323.1:p.Glu44=
NM_001369394.2:c.132_133delinsGT NP_001356323.1:p.Glu44=
NM_001386137.1:c.-150_-149delinsGT NP_001373066.1:n.-150_-149delinsGT
NM_001386138.1:c.-150_-149delinsGT NP_001373067.1:n.-150_-149delinsGT
NM_001386139.1:c.-150_-149delinsGT NP_001373068.1:n.-150_-149delinsGT
NM_004992.4:c.411_412delinsGT MANE Plus Clinical NP_004983.1:p.Glu137=