Canonical Allele Identifier: CA2695099038
Gene: MECP2 HGNC NCBI

Linked Data

gnomAD v4: X-154030083-TCTG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030085_154030087del , CM000685.2:g.154030085_154030087del GRCh38
NC_000023.10:g.153295536_153295538del , CM000685.1:g.153295536_153295538del GRCh37
NC_000023.9:g.152948730_152948732del NCBI36
NG_007107.2:g.112042_112044del
NG_007107.3:g.112018_112020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.*281_*283del MANE Plus Clinical ENSP00000301948.6:n.*281_*283del
ENST00000453960.7:c.*281_*283del MANE Select ENSP00000395535.2:n.*281_*283del
ENST00000303391.10:c.*281_*283del ENSP00000301948.6:n.*281_*283del
ENST00000619732.4:c.*208_*210del ENSP00000480973.1:n.*208_*210del
NM_004992.3:c.*281_*283del NP_004983.1:n.*281_*283del
XM_005274681.3:c.*281_*283del XP_005274738.1:n.*281_*283del
XM_005274682.3:c.*281_*283del XP_005274739.1:n.*281_*283del
XM_005274683.3:c.*281_*283del XP_005274740.1:n.*281_*283del
XM_006724819.2:c.*281_*283del XP_006724882.1:n.*281_*283del
XM_011531166.1:c.*281_*283del XP_011529468.1:n.*281_*283del
XM_006724819.3:c.*281_*283del XP_006724882.1:n.*281_*283del
XM_011531166.2:c.*281_*283del XP_011529468.1:n.*281_*283del
XM_024452383.1:c.*281_*283del XP_024308151.1:n.*281_*283del
XM_024452384.1:c.*281_*283del XP_024308152.1:n.*281_*283del
NM_001110792.2:c.*281_*283del MANE Select NP_001104262.1:n.*281_*283del
NM_001316337.2:c.*281_*283del NP_001303266.1:n.*281_*283del
NM_001369391.2:c.*281_*283del NP_001356320.1:n.*281_*283del
NM_001369392.2:c.*281_*283del NP_001356321.1:n.*281_*283del
NM_001369393.2:c.*281_*283del NP_001356322.1:n.*281_*283del
NM_001369394.2:c.*281_*283del NP_001356323.1:n.*281_*283del
NM_001386137.1:c.*281_*283del NP_001373066.1:n.*281_*283del
NM_001386138.1:c.*281_*283del NP_001373067.1:n.*281_*283del
NM_001386139.1:c.*281_*283del NP_001373068.1:n.*281_*283del
NM_004992.4:c.*281_*283del MANE Plus Clinical NP_004983.1:n.*281_*283del
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