Canonical Allele Identifier: CA199475
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 95202
ClinVar RCV Id: RCV000081211 RCV000168691 RCV000169939 RCV000170113 RCV000624370 RCV000850572 RCV001000009 RCV003333025 RCV002251971 RCV003227637
dbSNP Id: rs61750241
MyVariant Identifiers: chrX:g.153296473del (hg19) chrX:g.153296473delC (hg19) chrX:g.154031022del (hg38)
PubMed: PMID:8177735 PMID:10508514 PMID:10577905 PMID:10854091 PMID:10944854 PMID:11035019 PMID:11055898 PMID:11058114 PMID:11227330 PMID:11245712 PMID:11269512 PMID:11462237 PMID:12111643 PMID:12615169 PMID:12746405 PMID:15057977 PMID:15557528 PMID:15558314 PMID:16169931 PMID:16473305 PMID:16832102 PMID:17089071 PMID:17236109 PMID:17267601 PMID:17351020 PMID:17387578 PMID:18337588 PMID:21154482 PMID:21982064 PMID:23262346 PMID:23421866 PMID:24458799 PMID:27354166
ERepo: CA199475/MONDO:0010726/016
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031025del , CM000685.2:g.154031025del GRCh38
NC_000023.10:g.153296476del , CM000685.1:g.153296476del GRCh37
NC_000023.9:g.152949670del NCBI36
NG_007107.2:g.111106del
NG_007107.3:g.111082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.806del MANE Plus Clinical ENSP00000301948.6:p.Gly269AlafsTer20
ENST00000453960.7:c.842del MANE Select ENSP00000395535.2:p.Gly281AlafsTer20
ENST00000637917.1:c.66-86del
ENST00000303391.10:c.806del ENSP00000301948.6:p.Gly269AlafsTer20
ENST00000407218.5:c.*178del ENSP00000384865.2:n.*178del
ENST00000453960.6:c.842del ENSP00000395535.2:p.Gly281AlafsTer20
ENST00000619732.4:c.806del ENSP00000480973.1:p.Gly269AlafsTer20
ENST00000622433.4:c.794del ENSP00000484470.1:p.Gly265AlafsTer20
ENST00000628176.2:c.*178del ENSP00000486978.1:n.*178del
NM_001110792.1:c.842del NP_001104262.1:p.Gly281AlafsTer20
NM_001316337.1:c.527del NP_001303266.1:p.Gly176AlafsTer20
NM_004992.3:c.806del NP_004983.1:p.Gly269AlafsTer20
XM_005274681.3:c.806del XP_005274738.1:p.Gly269AlafsTer20
XM_005274682.3:c.527del XP_005274739.1:p.Gly176AlafsTer20
XM_005274683.3:c.527del XP_005274740.1:p.Gly176AlafsTer20
XM_006724819.2:c.137del XP_006724882.1:p.Gly46AlafsTer20
XM_011531166.1:c.527del XP_011529468.1:p.Gly176AlafsTer20
XM_006724819.3:c.137del XP_006724882.1:p.Gly46AlafsTer20
XM_011531166.2:c.527del XP_011529468.1:p.Gly176AlafsTer20
XM_024452383.1:c.527del XP_024308151.1:p.Gly176AlafsTer20
XM_024452384.1:c.527del XP_024308152.1:p.Gly176AlafsTer20
NM_001110792.2:c.842del MANE Select NP_001104262.1:p.Gly281AlafsTer20
NM_001316337.2:c.527del NP_001303266.1:p.Gly176AlafsTer20
NM_001369391.2:c.527del NP_001356320.1:p.Gly176AlafsTer20
NM_001369392.2:c.527del NP_001356321.1:p.Gly176AlafsTer20
NM_001369393.2:c.527del NP_001356322.1:p.Gly176AlafsTer20
NM_001369394.1:c.527del NP_001356323.1:p.Gly176AlafsTer20
NM_001369394.2:c.527del NP_001356323.1:p.Gly176AlafsTer20
NM_001386137.1:c.137del NP_001373066.1:p.Gly46AlafsTer20
NM_001386138.1:c.137del NP_001373067.1:p.Gly46AlafsTer20
NM_001386139.1:c.137del NP_001373068.1:p.Gly46AlafsTer20
NM_004992.4:c.806del MANE Plus Clinical NP_004983.1:p.Gly269AlafsTer20
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