Canonical Allele Identifier: CA2466569965
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030191_154030192delinsCA , CM000685.2:g.154030191_154030192delinsCA GRCh38
NC_000023.10:g.153295642_153295643delinsCA , CM000685.1:g.153295642_153295643delinsCA GRCh37
NC_000023.9:g.152948836_152948837delinsCA NCBI36
NG_007107.2:g.111936_111937delinsTG
NG_007107.3:g.111912_111913delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.*175_*176delinsTG MANE Plus Clinical ENSP00000301948.6:n.*175_*176delinsTG
ENST00000453960.7:c.*175_*176delinsTG MANE Select ENSP00000395535.2:n.*175_*176delinsTG
ENST00000303391.10:c.*175_*176delinsTG ENSP00000301948.6:n.*175_*176delinsTG
ENST00000619732.4:c.*102_*103delinsTG ENSP00000480973.1:n.*102_*103delinsTG
NM_004992.3:c.*175_*176delinsTG NP_004983.1:n.*175_*176delinsTG
XM_005274681.3:c.*175_*176delinsTG XP_005274738.1:n.*175_*176delinsTG
XM_005274682.3:c.*175_*176delinsTG XP_005274739.1:n.*175_*176delinsTG
XM_005274683.3:c.*175_*176delinsTG XP_005274740.1:n.*175_*176delinsTG
XM_006724819.2:c.*175_*176delinsTG XP_006724882.1:n.*175_*176delinsTG
XM_011531166.1:c.*175_*176delinsTG XP_011529468.1:n.*175_*176delinsTG
XM_006724819.3:c.*175_*176delinsTG XP_006724882.1:n.*175_*176delinsTG
XM_011531166.2:c.*175_*176delinsTG XP_011529468.1:n.*175_*176delinsTG
XM_024452383.1:c.*175_*176delinsTG XP_024308151.1:n.*175_*176delinsTG
XM_024452384.1:c.*175_*176delinsTG XP_024308152.1:n.*175_*176delinsTG
NM_001110792.2:c.*175_*176delinsTG MANE Select NP_001104262.1:n.*175_*176delinsTG
NM_001316337.2:c.*175_*176delinsTG NP_001303266.1:n.*175_*176delinsTG
NM_001369391.2:c.*175_*176delinsTG NP_001356320.1:n.*175_*176delinsTG
NM_001369392.2:c.*175_*176delinsTG NP_001356321.1:n.*175_*176delinsTG
NM_001369393.2:c.*175_*176delinsTG NP_001356322.1:n.*175_*176delinsTG
NM_001369394.2:c.*175_*176delinsTG NP_001356323.1:n.*175_*176delinsTG
NM_001386137.1:c.*175_*176delinsTG NP_001373066.1:n.*175_*176delinsTG
NM_001386138.1:c.*175_*176delinsTG NP_001373067.1:n.*175_*176delinsTG
NM_001386139.1:c.*175_*176delinsTG NP_001373068.1:n.*175_*176delinsTG
NM_004992.4:c.*175_*176delinsTG MANE Plus Clinical NP_004983.1:n.*175_*176delinsTG