Canonical Allele Identifier: CA2466570822
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031117_154031118delinsAC , CM000685.2:g.154031117_154031118delinsAC GRCh38
NC_000023.10:g.153296568_153296569delinsAC , CM000685.1:g.153296568_153296569delinsAC GRCh37
NC_000023.9:g.152949762_152949763delinsAC NCBI36
NG_007107.2:g.111010_111011delinsGT
NG_007107.3:g.110986_110987delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.710_711delinsGT MANE Plus Clinical ENSP00000301948.6:p.Gly237=
ENST00000453960.7:c.746_747delinsGT MANE Select ENSP00000395535.2:p.Gly249=
ENST00000637917.1:c.66-182_66-181delinsGT
ENST00000303391.10:c.710_711delinsGT ENSP00000301948.6:p.Gly237=
ENST00000407218.5:c.*82_*83delinsGT ENSP00000384865.2:n.*82_*83delinsGT
ENST00000453960.6:c.746_747delinsGT ENSP00000395535.2:p.Gly249=
ENST00000619732.4:c.710_711delinsGT ENSP00000480973.1:p.Gly237=
ENST00000622433.4:c.698_699delinsGT ENSP00000484470.1:p.Gly233=
ENST00000628176.2:c.*82_*83delinsGT ENSP00000486978.1:n.*82_*83delinsGT
NM_001110792.1:c.746_747delinsGT NP_001104262.1:p.Gly249=
NM_001316337.1:c.431_432delinsGT NP_001303266.1:p.Gly144=
NM_004992.3:c.710_711delinsGT NP_004983.1:p.Gly237=
XM_005274681.3:c.710_711delinsGT XP_005274738.1:p.Gly237=
XM_005274682.3:c.431_432delinsGT XP_005274739.1:p.Gly144=
XM_005274683.3:c.431_432delinsGT XP_005274740.1:p.Gly144=
XM_006724819.2:c.41_42delinsGT XP_006724882.1:p.Gly14=
XM_011531166.1:c.431_432delinsGT XP_011529468.1:p.Gly144=
XM_006724819.3:c.41_42delinsGT XP_006724882.1:p.Gly14=
XM_011531166.2:c.431_432delinsGT XP_011529468.1:p.Gly144=
XM_024452383.1:c.431_432delinsGT XP_024308151.1:p.Gly144=
XM_024452384.1:c.431_432delinsGT XP_024308152.1:p.Gly144=
NM_001110792.2:c.746_747delinsGT MANE Select NP_001104262.1:p.Gly249=
NM_001316337.2:c.431_432delinsGT NP_001303266.1:p.Gly144=
NM_001369391.2:c.431_432delinsGT NP_001356320.1:p.Gly144=
NM_001369392.2:c.431_432delinsGT NP_001356321.1:p.Gly144=
NM_001369393.2:c.431_432delinsGT NP_001356322.1:p.Gly144=
NM_001369394.1:c.431_432delinsGT NP_001356323.1:p.Gly144=
NM_001369394.2:c.431_432delinsGT NP_001356323.1:p.Gly144=
NM_001386137.1:c.41_42delinsGT NP_001373066.1:p.Gly14=
NM_001386138.1:c.41_42delinsGT NP_001373067.1:p.Gly14=
NM_001386139.1:c.41_42delinsGT NP_001373068.1:p.Gly14=
NM_004992.4:c.710_711delinsGT MANE Plus Clinical NP_004983.1:p.Gly237=