Canonical Allele Identifier: CA2466568694
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154028078_154028079delinsGA , CM000685.2:g.154028078_154028079delinsGA GRCh38
NC_000023.10:g.153293529_153293530delinsGA , CM000685.1:g.153293529_153293530delinsGA GRCh37
NC_000023.9:g.152946723_152946724delinsGA NCBI36
NG_007107.2:g.114049_114050delinsTC
NG_007107.3:g.114025_114026delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.*2288_*2289delinsTC MANE Plus Clinical ENSP00000301948.6:n.*2288_*2289delinsTC
ENST00000453960.7:c.*2288_*2289delinsTC MANE Select ENSP00000395535.2:n.*2288_*2289delinsTC
ENST00000303391.10:c.*2288_*2289delinsTC ENSP00000301948.6:n.*2288_*2289delinsTC
ENST00000619732.4:c.*2215_*2216delinsTC ENSP00000480973.1:n.*2215_*2216delinsTC
NM_004992.3:c.*2288_*2289delinsTC NP_004983.1:n.*2288_*2289delinsTC
XM_006724819.3:c.*2288_*2289delinsTC XP_006724882.1:n.*2288_*2289delinsTC
XM_011531166.2:c.*2288_*2289delinsTC XP_011529468.1:n.*2288_*2289delinsTC
XM_024452383.1:c.*2288_*2289delinsTC XP_024308151.1:n.*2288_*2289delinsTC
XM_024452384.1:c.*2288_*2289delinsTC XP_024308152.1:n.*2288_*2289delinsTC
NM_001110792.2:c.*2288_*2289delinsTC MANE Select NP_001104262.1:n.*2288_*2289delinsTC
NM_001316337.2:c.*2288_*2289delinsTC NP_001303266.1:n.*2288_*2289delinsTC
NM_001369391.2:c.*2288_*2289delinsTC NP_001356320.1:n.*2288_*2289delinsTC
NM_001369392.2:c.*2288_*2289delinsTC NP_001356321.1:n.*2288_*2289delinsTC
NM_001369393.2:c.*2288_*2289delinsTC NP_001356322.1:n.*2288_*2289delinsTC
NM_001369394.2:c.*2288_*2289delinsTC NP_001356323.1:n.*2288_*2289delinsTC
NM_001386137.1:c.*2288_*2289delinsTC NP_001373066.1:n.*2288_*2289delinsTC
NM_001386138.1:c.*2288_*2289delinsTC NP_001373067.1:n.*2288_*2289delinsTC
NM_001386139.1:c.*2288_*2289delinsTC NP_001373068.1:n.*2288_*2289delinsTC
NM_004992.4:c.*2288_*2289delinsTC MANE Plus Clinical NP_004983.1:n.*2288_*2289delinsTC