Canonical Allele Identifier: CA2466568700
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154028096_154028099delinsTATG , CM000685.2:g.154028096_154028099delinsTATG GRCh38
NC_000023.10:g.153293547_153293550delinsTATG , CM000685.1:g.153293547_153293550delinsTATG GRCh37
NC_000023.9:g.152946741_152946744delinsTATG NCBI36
NG_007107.2:g.114029_114032delinsCATA
NG_007107.3:g.114005_114008delinsCATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.*2268_*2271delinsCATA MANE Plus Clinical ENSP00000301948.6:n.*2268_*2271delinsCATA
ENST00000453960.7:c.*2268_*2271delinsCATA MANE Select ENSP00000395535.2:n.*2268_*2271delinsCATA
ENST00000303391.10:c.*2268_*2271delinsCATA ENSP00000301948.6:n.*2268_*2271delinsCATA
ENST00000619732.4:c.*2195_*2198delinsCATA ENSP00000480973.1:n.*2195_*2198delinsCATA
NM_004992.3:c.*2268_*2271delinsCATA NP_004983.1:n.*2268_*2271delinsCATA
XM_006724819.3:c.*2268_*2271delinsCATA XP_006724882.1:n.*2268_*2271delinsCATA
XM_011531166.2:c.*2268_*2271delinsCATA XP_011529468.1:n.*2268_*2271delinsCATA
XM_024452383.1:c.*2268_*2271delinsCATA XP_024308151.1:n.*2268_*2271delinsCATA
XM_024452384.1:c.*2268_*2271delinsCATA XP_024308152.1:n.*2268_*2271delinsCATA
NM_001110792.2:c.*2268_*2271delinsCATA MANE Select NP_001104262.1:n.*2268_*2271delinsCATA
NM_001316337.2:c.*2268_*2271delinsCATA NP_001303266.1:n.*2268_*2271delinsCATA
NM_001369391.2:c.*2268_*2271delinsCATA NP_001356320.1:n.*2268_*2271delinsCATA
NM_001369392.2:c.*2268_*2271delinsCATA NP_001356321.1:n.*2268_*2271delinsCATA
NM_001369393.2:c.*2268_*2271delinsCATA NP_001356322.1:n.*2268_*2271delinsCATA
NM_001369394.2:c.*2268_*2271delinsCATA NP_001356323.1:n.*2268_*2271delinsCATA
NM_001386137.1:c.*2268_*2271delinsCATA NP_001373066.1:n.*2268_*2271delinsCATA
NM_001386138.1:c.*2268_*2271delinsCATA NP_001373067.1:n.*2268_*2271delinsCATA
NM_001386139.1:c.*2268_*2271delinsCATA NP_001373068.1:n.*2268_*2271delinsCATA
NM_004992.4:c.*2268_*2271delinsCATA MANE Plus Clinical NP_004983.1:n.*2268_*2271delinsCATA