Canonical Allele Identifier: CA2824281071
Gene: MECP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030099_154030101del , CM000685.2:g.154030099_154030101del GRCh38
NC_000023.10:g.153295550_153295552del , CM000685.1:g.153295550_153295552del GRCh37
NC_000023.9:g.152948744_152948746del NCBI36
NG_007107.2:g.112030_112032del
NG_007107.3:g.112006_112008del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.*269_*271del MANE Plus Clinical ENSP00000301948.6:n.*269_*271del
ENST00000453960.7:c.*269_*271del MANE Select ENSP00000395535.2:n.*269_*271del
ENST00000303391.10:c.*269_*271del ENSP00000301948.6:n.*269_*271del
ENST00000619732.4:c.*196_*198del ENSP00000480973.1:n.*196_*198del
NM_004992.3:c.*269_*271del NP_004983.1:n.*269_*271del
XM_005274681.3:c.*269_*271del XP_005274738.1:n.*269_*271del
XM_005274682.3:c.*269_*271del XP_005274739.1:n.*269_*271del
XM_005274683.3:c.*269_*271del XP_005274740.1:n.*269_*271del
XM_006724819.2:c.*269_*271del XP_006724882.1:n.*269_*271del
XM_011531166.1:c.*269_*271del XP_011529468.1:n.*269_*271del
XM_006724819.3:c.*269_*271del XP_006724882.1:n.*269_*271del
XM_011531166.2:c.*269_*271del XP_011529468.1:n.*269_*271del
XM_024452383.1:c.*269_*271del XP_024308151.1:n.*269_*271del
XM_024452384.1:c.*269_*271del XP_024308152.1:n.*269_*271del
NM_001110792.2:c.*269_*271del MANE Select NP_001104262.1:n.*269_*271del
NM_001316337.2:c.*269_*271del NP_001303266.1:n.*269_*271del
NM_001369391.2:c.*269_*271del NP_001356320.1:n.*269_*271del
NM_001369392.2:c.*269_*271del NP_001356321.1:n.*269_*271del
NM_001369393.2:c.*269_*271del NP_001356322.1:n.*269_*271del
NM_001369394.2:c.*269_*271del NP_001356323.1:n.*269_*271del
NM_001386137.1:c.*269_*271del NP_001373066.1:n.*269_*271del
NM_001386138.1:c.*269_*271del NP_001373067.1:n.*269_*271del
NM_001386139.1:c.*269_*271del NP_001373068.1:n.*269_*271del
NM_004992.4:c.*269_*271del MANE Plus Clinical NP_004983.1:n.*269_*271del