Canonical Allele Identifier: CA2466571568
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032324_154032326delinsATG , CM000685.2:g.154032324_154032326delinsATG GRCh38
NC_000023.10:g.153297775_153297777delinsATG , CM000685.1:g.153297775_153297777delinsATG GRCh37
NC_000023.9:g.152950969_152950971delinsATG NCBI36
NG_007107.2:g.109802_109804delinsCAT
NG_007107.3:g.109778_109780delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.258_260delinsCAT MANE Plus Clinical ENSP00000301948.6:p.Ser86=
ENST00000453960.7:c.294_296delinsCAT MANE Select ENSP00000395535.2:p.Ser98=
ENST00000303391.10:c.258_260delinsCAT ENSP00000301948.6:p.Ser86=
ENST00000369957.5:c.*312_*314delinsCAT ENSP00000358973.4:n.*312_*314delinsCAT
ENST00000407218.5:c.294_296delinsCAT ENSP00000384865.2:p.Ser98=
ENST00000453960.6:c.294_296delinsCAT ENSP00000395535.2:p.Ser98=
ENST00000486506.5:n.2606_2608delinsCAT
ENST00000611468.1:c.246_248delinsCAT ENSP00000479736.1:p.Ser82=
ENST00000619732.4:c.258_260delinsCAT ENSP00000480973.1:p.Ser86=
ENST00000622433.4:c.246_248delinsCAT ENSP00000484470.1:p.Ser82=
ENST00000628176.2:c.258_260delinsCAT ENSP00000486978.1:p.Ser86=
NM_001110792.1:c.294_296delinsCAT NP_001104262.1:p.Ser98=
NM_001316337.1:c.-22_-20delinsCAT NP_001303266.1:n.-22_-20delinsCAT
NM_004992.3:c.258_260delinsCAT NP_004983.1:p.Ser86=
XM_005274681.3:c.258_260delinsCAT XP_005274738.1:p.Ser86=
XM_005274682.3:c.-22_-20delinsCAT XP_005274739.1:n.-22_-20delinsCAT
XM_005274683.3:c.-22_-20delinsCAT XP_005274740.1:n.-22_-20delinsCAT
XM_011531166.1:c.-22_-20delinsCAT XP_011529468.1:n.-22_-20delinsCAT
XM_006724819.3:c.-303_-301delinsCAT XP_006724882.1:n.-303_-301delinsCAT
XM_011531166.2:c.-22_-20delinsCAT XP_011529468.1:n.-22_-20delinsCAT
XM_024452383.1:c.-22_-20delinsCAT XP_024308151.1:n.-22_-20delinsCAT
XM_024452384.1:c.-22_-20delinsCAT XP_024308152.1:n.-22_-20delinsCAT
NM_001110792.2:c.294_296delinsCAT MANE Select NP_001104262.1:p.Ser98=
NM_001316337.2:c.-22_-20delinsCAT NP_001303266.1:n.-22_-20delinsCAT
NM_001369391.2:c.-22_-20delinsCAT NP_001356320.1:n.-22_-20delinsCAT
NM_001369392.2:c.-22_-20delinsCAT NP_001356321.1:n.-22_-20delinsCAT
NM_001369393.2:c.-22_-20delinsCAT NP_001356322.1:n.-22_-20delinsCAT
NM_001369394.1:c.-22_-20delinsCAT NP_001356323.1:n.-22_-20delinsCAT
NM_001369394.2:c.-22_-20delinsCAT NP_001356323.1:n.-22_-20delinsCAT
NM_001386137.1:c.-303_-301delinsCAT NP_001373066.1:n.-303_-301delinsCAT
NM_001386138.1:c.-303_-301delinsCAT NP_001373067.1:n.-303_-301delinsCAT
NM_001386139.1:c.-303_-301delinsCAT NP_001373068.1:n.-303_-301delinsCAT
NM_004992.4:c.258_260delinsCAT MANE Plus Clinical NP_004983.1:p.Ser86=