Canonical Allele Identifier: CA2695100362
Gene: MECP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030661_154030663del , CM000685.2:g.154030661_154030663del GRCh38
NC_000023.10:g.153296112_153296114del , CM000685.1:g.153296112_153296114del GRCh37
NC_000023.9:g.152949306_152949308del NCBI36
NG_007107.2:g.111467_111469del
NG_007107.3:g.111443_111445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.1167_1169del MANE Plus Clinical ENSP00000301948.6:p.Pro390del
ENST00000453960.7:c.1203_1205del MANE Select ENSP00000395535.2:p.Pro402del
ENST00000303391.10:c.1167_1169del ENSP00000301948.6:p.Pro390del
ENST00000407218.5:c.*539_*541del ENSP00000384865.2:n.*539_*541del
ENST00000453960.6:c.1203_1205del ENSP00000395535.2:p.Pro402del
ENST00000619732.4:c.1167_1169del ENSP00000480973.1:p.Pro390del
ENST00000628176.2:c.*539_*541del ENSP00000486978.1:n.*539_*541del
NM_001110792.1:c.1203_1205del NP_001104262.1:p.Pro402del
NM_001316337.1:c.888_890del NP_001303266.1:p.Pro297del
NM_004992.3:c.1167_1169del NP_004983.1:p.Pro390del
XM_005274681.3:c.1167_1169del XP_005274738.1:p.Pro390del
XM_005274682.3:c.888_890del XP_005274739.1:p.Pro297del
XM_005274683.3:c.888_890del XP_005274740.1:p.Pro297del
XM_006724819.2:c.498_500del XP_006724882.1:p.Pro167del
XM_011531166.1:c.888_890del XP_011529468.1:p.Pro297del
XM_006724819.3:c.498_500del XP_006724882.1:p.Pro167del
XM_011531166.2:c.888_890del XP_011529468.1:p.Pro297del
XM_024452383.1:c.888_890del XP_024308151.1:p.Pro297del
XM_024452384.1:c.888_890del XP_024308152.1:p.Pro297del
NM_001110792.2:c.1203_1205del MANE Select NP_001104262.1:p.Pro402del
NM_001316337.2:c.888_890del NP_001303266.1:p.Pro297del
NM_001369391.2:c.888_890del NP_001356320.1:p.Pro297del
NM_001369392.2:c.888_890del NP_001356321.1:p.Pro297del
NM_001369393.2:c.888_890del NP_001356322.1:p.Pro297del
NM_001369394.1:c.888_890del NP_001356323.1:p.Pro297del
NM_001369394.2:c.888_890del NP_001356323.1:p.Pro297del
NM_001386137.1:c.498_500del NP_001373066.1:p.Pro167del
NM_001386138.1:c.498_500del NP_001373067.1:p.Pro167del
NM_001386139.1:c.498_500del NP_001373068.1:p.Pro167del
NM_004992.4:c.1167_1169del MANE Plus Clinical NP_004983.1:p.Pro390del