Canonical Allele Identifier: CA270527
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143697
ClinVar RCV Id: RCV000133238
dbSNP Id: rs267608526
MyVariant Identifiers: chrX:g.153296486_153296487del (hg19) chrX:g.154031035_154031036del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031035_154031036del , CM000685.2:g.154031035_154031036del GRCh38
NC_000023.10:g.153296486_153296487del , CM000685.1:g.153296486_153296487del GRCh37
NC_000023.9:g.152949680_152949681del NCBI36
NG_007107.2:g.111092_111093del
NG_007107.3:g.111068_111069del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.792_793del MANE Plus Clinical ENSP00000301948.6:p.Pro265GlnfsTer?
ENST00000453960.7:c.828_829del MANE Select ENSP00000395535.2:p.Pro277GlnfsTer?
ENST00000637917.1:c.66-100_66-99del
ENST00000303391.10:c.792_793del ENSP00000301948.6:p.Pro265GlnfsTer?
ENST00000407218.5:c.*164_*165del ENSP00000384865.2:n.*164_*165del
ENST00000453960.6:c.828_829del ENSP00000395535.2:p.Pro277GlnfsTer?
ENST00000619732.4:c.792_793del ENSP00000480973.1:p.Pro265GlnfsTer?
ENST00000622433.4:c.780_781del ENSP00000484470.1:p.Pro261GlnfsTer?
ENST00000628176.2:c.*164_*165del ENSP00000486978.1:n.*164_*165del
NM_001110792.1:c.828_829del NP_001104262.1:p.Pro277GlnfsTer?
NM_001316337.1:c.513_514del NP_001303266.1:p.Pro172GlnfsTer?
NM_004992.3:c.792_793del NP_004983.1:p.Pro265GlnfsTer?
XM_005274681.3:c.792_793del XP_005274738.1:p.Pro265GlnfsTer?
XM_005274682.3:c.513_514del XP_005274739.1:p.Pro172GlnfsTer?
XM_005274683.3:c.513_514del XP_005274740.1:p.Pro172GlnfsTer?
XM_006724819.2:c.123_124del XP_006724882.1:p.Pro42GlnfsTer?
XM_011531166.1:c.513_514del XP_011529468.1:p.Pro172GlnfsTer?
XM_006724819.3:c.123_124del XP_006724882.1:p.Pro42GlnfsTer?
XM_011531166.2:c.513_514del XP_011529468.1:p.Pro172GlnfsTer?
XM_024452383.1:c.513_514del XP_024308151.1:p.Pro172GlnfsTer?
XM_024452384.1:c.513_514del XP_024308152.1:p.Pro172GlnfsTer?
NM_001110792.2:c.828_829del MANE Select NP_001104262.1:p.Pro277GlnfsTer?
NM_001316337.2:c.513_514del NP_001303266.1:p.Pro172GlnfsTer?
NM_001369391.2:c.513_514del NP_001356320.1:p.Pro172GlnfsTer?
NM_001369392.2:c.513_514del NP_001356321.1:p.Pro172GlnfsTer?
NM_001369393.2:c.513_514del NP_001356322.1:p.Pro172GlnfsTer?
NM_001369394.1:c.513_514del NP_001356323.1:p.Pro172GlnfsTer?
NM_001369394.2:c.513_514del NP_001356323.1:p.Pro172GlnfsTer?
NM_001386137.1:c.123_124del NP_001373066.1:p.Pro42GlnfsTer?
NM_001386138.1:c.123_124del NP_001373067.1:p.Pro42GlnfsTer?
NM_001386139.1:c.123_124del NP_001373068.1:p.Pro42GlnfsTer?
NM_004992.4:c.792_793del MANE Plus Clinical NP_004983.1:p.Pro265GlnfsTer?
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