Canonical Allele Identifier: CA274838
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 192292
ClinVar RCV Id: RCV000172868
dbSNP Id: rs1557134481

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154029920_154030687del , CM000685.2:g.154029920_154030687del GRCh38
NC_000023.10:g.153295371_153296138del , CM000685.1:g.153295371_153296138del GRCh37
NC_000023.9:g.152948565_152949332del NCBI36
NG_007107.2:g.111446_112213del
NG_007107.3:g.111422_112189del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.1146_*452del MANE Plus Clinical ENSP00000301948.6:n.[c.1146_*452del;Leu38...
ENST00000453960.7:c.1182_*452del MANE Select ENSP00000395535.2:n.[c.1182_*452del;Leu39...
ENST00000303391.10:c.1146_*452del ENSP00000301948.6:n.[c.1146_*452del;Leu38...
ENST00000619732.4:c.1146_*379del
NM_004992.3:c.1146_*452del NP_004983.1:n.[c.1146_*452del;Leu383Profs...
XM_005274681.3:c.1146_*452del XP_005274738.1:n.[c.1146_*452del;Leu383Pr...
XM_005274682.3:c.867_*452del XP_005274739.1:n.[c.867_*452del;Leu290Pro...
XM_005274683.3:c.867_*452del XP_005274740.1:n.[c.867_*452del;Leu290Pro...
XM_006724819.2:c.477_*452del XP_006724882.1:n.[c.477_*452del;Leu160Pro...
XM_011531166.1:c.867_*452del XP_011529468.1:n.[c.867_*452del;Leu290Pro...
XM_006724819.3:c.477_*452del XP_006724882.1:n.[c.477_*452del;Leu160Pro...
XM_011531166.2:c.867_*452del XP_011529468.1:n.[c.867_*452del;Leu290Pro...
XM_024452383.1:c.867_*452del XP_024308151.1:n.[c.867_*452del;Leu290Pro...
XM_024452384.1:c.867_*452del XP_024308152.1:n.[c.867_*452del;Leu290Pro...
NM_001110792.2:c.1182_*452del MANE Select NP_001104262.1:n.[c.1182_*452del;Leu395Pr...
NM_001316337.2:c.867_*452del NP_001303266.1:n.[c.867_*452del;Leu290Pro...
NM_001369391.2:c.867_*452del NP_001356320.1:n.[c.867_*452del;Leu290Pro...
NM_001369392.2:c.867_*452del NP_001356321.1:n.[c.867_*452del;Leu290Pro...
NM_001369393.2:c.867_*452del NP_001356322.1:n.[c.867_*452del;Leu290Pro...
NM_001369394.2:c.867_*452del NP_001356323.1:n.[c.867_*452del;Leu290Pro...
NM_001386137.1:c.477_*452del NP_001373066.1:n.[c.477_*452del;Leu160Pro...
NM_001386138.1:c.477_*452del NP_001373067.1:n.[c.477_*452del;Leu160Pro...
NM_001386139.1:c.477_*452del NP_001373068.1:n.[c.477_*452del;Leu160Pro...
NM_004992.4:c.1146_*452del MANE Plus Clinical NP_004983.1:n.[c.1146_*452del;Leu383Profs...