Canonical Allele Identifier: CA270210
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143351
ClinVar RCV Id: RCV000132877 RCV002514761
dbSNP Id: rs267608574
MyVariant Identifiers: chrX:g.153296091_153296128del (hg19) chrX:g.154030640_154030677del (hg38)
PubMed: PMID:19371229
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030645_154030682del , CM000685.2:g.154030645_154030682del GRCh38
NC_000023.10:g.153296096_153296133del , CM000685.1:g.153296096_153296133del GRCh37
NC_000023.9:g.152949290_152949327del NCBI36
NG_007107.2:g.111451_111488del
NG_007107.3:g.111427_111464del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.1151_1188del MANE Plus Clinical ENSP00000301948.6:p.Pro384ArgfsTer8
ENST00000453960.7:c.1187_1224del MANE Select ENSP00000395535.2:p.Pro396ArgfsTer8
ENST00000303391.10:c.1151_1188del ENSP00000301948.6:p.Pro384ArgfsTer8
ENST00000407218.5:c.*523_*560del ENSP00000384865.2:n.*523_*560del
ENST00000453960.6:c.1187_1224del ENSP00000395535.2:p.Pro396ArgfsTer8
ENST00000619732.4:c.1151_1188del ENSP00000480973.1:p.Pro384ArgfsTer8
ENST00000628176.2:c.*523_*560del ENSP00000486978.1:n.*523_*560del
NM_001110792.1:c.1187_1224del NP_001104262.1:p.Pro396ArgfsTer8
NM_001316337.1:c.872_909del NP_001303266.1:p.Pro291ArgfsTer8
NM_004992.3:c.1151_1188del NP_004983.1:p.Pro384ArgfsTer8
XM_005274681.3:c.1151_1188del XP_005274738.1:p.Pro384ArgfsTer8
XM_005274682.3:c.872_909del XP_005274739.1:p.Pro291ArgfsTer8
XM_005274683.3:c.872_909del XP_005274740.1:p.Pro291ArgfsTer8
XM_006724819.2:c.482_519del XP_006724882.1:p.Pro161ArgfsTer8
XM_011531166.1:c.872_909del XP_011529468.1:p.Pro291ArgfsTer8
XM_006724819.3:c.482_519del XP_006724882.1:p.Pro161ArgfsTer8
XM_011531166.2:c.872_909del XP_011529468.1:p.Pro291ArgfsTer8
XM_024452383.1:c.872_909del XP_024308151.1:p.Pro291ArgfsTer8
XM_024452384.1:c.872_909del XP_024308152.1:p.Pro291ArgfsTer8
NM_001110792.2:c.1187_1224del MANE Select NP_001104262.1:p.Pro396ArgfsTer8
NM_001316337.2:c.872_909del NP_001303266.1:p.Pro291ArgfsTer8
NM_001369391.2:c.872_909del NP_001356320.1:p.Pro291ArgfsTer8
NM_001369392.2:c.872_909del NP_001356321.1:p.Pro291ArgfsTer8
NM_001369393.2:c.872_909del NP_001356322.1:p.Pro291ArgfsTer8
NM_001369394.1:c.872_909del NP_001356323.1:p.Pro291ArgfsTer8
NM_001369394.2:c.872_909del NP_001356323.1:p.Pro291ArgfsTer8
NM_001386137.1:c.482_519del NP_001373066.1:p.Pro161ArgfsTer8
NM_001386138.1:c.482_519del NP_001373067.1:p.Pro161ArgfsTer8
NM_001386139.1:c.482_519del NP_001373068.1:p.Pro161ArgfsTer8
NM_004992.4:c.1151_1188del MANE Plus Clinical NP_004983.1:p.Pro384ArgfsTer8
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