Canonical Allele Identifier: CA2466569925
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030117_154030118delinsGA , CM000685.2:g.154030117_154030118delinsGA GRCh38
NC_000023.10:g.153295568_153295569delinsGA , CM000685.1:g.153295568_153295569delinsGA GRCh37
NC_000023.9:g.152948762_152948763delinsGA NCBI36
NG_007107.2:g.112010_112011delinsTC
NG_007107.3:g.111986_111987delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.*249_*250delinsTC MANE Plus Clinical ENSP00000301948.6:n.*249_*250delinsTC
ENST00000453960.7:c.*249_*250delinsTC MANE Select ENSP00000395535.2:n.*249_*250delinsTC
ENST00000303391.10:c.*249_*250delinsTC ENSP00000301948.6:n.*249_*250delinsTC
ENST00000619732.4:c.*176_*177delinsTC ENSP00000480973.1:n.*176_*177delinsTC
NM_004992.3:c.*249_*250delinsTC NP_004983.1:n.*249_*250delinsTC
XM_005274681.3:c.*249_*250delinsTC XP_005274738.1:n.*249_*250delinsTC
XM_005274682.3:c.*249_*250delinsTC XP_005274739.1:n.*249_*250delinsTC
XM_005274683.3:c.*249_*250delinsTC XP_005274740.1:n.*249_*250delinsTC
XM_006724819.2:c.*249_*250delinsTC XP_006724882.1:n.*249_*250delinsTC
XM_011531166.1:c.*249_*250delinsTC XP_011529468.1:n.*249_*250delinsTC
XM_006724819.3:c.*249_*250delinsTC XP_006724882.1:n.*249_*250delinsTC
XM_011531166.2:c.*249_*250delinsTC XP_011529468.1:n.*249_*250delinsTC
XM_024452383.1:c.*249_*250delinsTC XP_024308151.1:n.*249_*250delinsTC
XM_024452384.1:c.*249_*250delinsTC XP_024308152.1:n.*249_*250delinsTC
NM_001110792.2:c.*249_*250delinsTC MANE Select NP_001104262.1:n.*249_*250delinsTC
NM_001316337.2:c.*249_*250delinsTC NP_001303266.1:n.*249_*250delinsTC
NM_001369391.2:c.*249_*250delinsTC NP_001356320.1:n.*249_*250delinsTC
NM_001369392.2:c.*249_*250delinsTC NP_001356321.1:n.*249_*250delinsTC
NM_001369393.2:c.*249_*250delinsTC NP_001356322.1:n.*249_*250delinsTC
NM_001369394.2:c.*249_*250delinsTC NP_001356323.1:n.*249_*250delinsTC
NM_001386137.1:c.*249_*250delinsTC NP_001373066.1:n.*249_*250delinsTC
NM_001386138.1:c.*249_*250delinsTC NP_001373067.1:n.*249_*250delinsTC
NM_001386139.1:c.*249_*250delinsTC NP_001373068.1:n.*249_*250delinsTC
NM_004992.4:c.*249_*250delinsTC MANE Plus Clinical NP_004983.1:n.*249_*250delinsTC