Canonical Allele Identifier: CA2466570831
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031132_154031133delinsGC , CM000685.2:g.154031132_154031133delinsGC GRCh38
NC_000023.10:g.153296583_153296584delinsGC , CM000685.1:g.153296583_153296584delinsGC GRCh37
NC_000023.9:g.152949777_152949778delinsGC NCBI36
NG_007107.2:g.110995_110996delinsGC
NG_007107.3:g.110971_110972delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.695_696delinsGC MANE Plus Clinical ENSP00000301948.6:p.Gly232=
ENST00000453960.7:c.731_732delinsGC MANE Select ENSP00000395535.2:p.Gly244=
ENST00000637917.1:c.66-197_66-196delinsGC
ENST00000303391.10:c.695_696delinsGC ENSP00000301948.6:p.Gly232=
ENST00000407218.5:c.*67_*68delinsGC ENSP00000384865.2:n.*67_*68delinsGC
ENST00000453960.6:c.731_732delinsGC ENSP00000395535.2:p.Gly244=
ENST00000619732.4:c.695_696delinsGC ENSP00000480973.1:p.Gly232=
ENST00000622433.4:c.683_684delinsGC ENSP00000484470.1:p.Gly228=
ENST00000628176.2:c.*67_*68delinsGC ENSP00000486978.1:n.*67_*68delinsGC
NM_001110792.1:c.731_732delinsGC NP_001104262.1:p.Gly244=
NM_001316337.1:c.416_417delinsGC NP_001303266.1:p.Gly139=
NM_004992.3:c.695_696delinsGC NP_004983.1:p.Gly232=
XM_005274681.3:c.695_696delinsGC XP_005274738.1:p.Gly232=
XM_005274682.3:c.416_417delinsGC XP_005274739.1:p.Gly139=
XM_005274683.3:c.416_417delinsGC XP_005274740.1:p.Gly139=
XM_006724819.2:c.26_27delinsGC XP_006724882.1:p.Gly9=
XM_011531166.1:c.416_417delinsGC XP_011529468.1:p.Gly139=
XM_006724819.3:c.26_27delinsGC XP_006724882.1:p.Gly9=
XM_011531166.2:c.416_417delinsGC XP_011529468.1:p.Gly139=
XM_024452383.1:c.416_417delinsGC XP_024308151.1:p.Gly139=
XM_024452384.1:c.416_417delinsGC XP_024308152.1:p.Gly139=
NM_001110792.2:c.731_732delinsGC MANE Select NP_001104262.1:p.Gly244=
NM_001316337.2:c.416_417delinsGC NP_001303266.1:p.Gly139=
NM_001369391.2:c.416_417delinsGC NP_001356320.1:p.Gly139=
NM_001369392.2:c.416_417delinsGC NP_001356321.1:p.Gly139=
NM_001369393.2:c.416_417delinsGC NP_001356322.1:p.Gly139=
NM_001369394.1:c.416_417delinsGC NP_001356323.1:p.Gly139=
NM_001369394.2:c.416_417delinsGC NP_001356323.1:p.Gly139=
NM_001386137.1:c.26_27delinsGC NP_001373066.1:p.Gly9=
NM_001386138.1:c.26_27delinsGC NP_001373067.1:p.Gly9=
NM_001386139.1:c.26_27delinsGC NP_001373068.1:p.Gly9=
NM_004992.4:c.695_696delinsGC MANE Plus Clinical NP_004983.1:p.Gly232=