Canonical Allele Identifier: CA270205
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143347
ClinVar RCV Id: RCV000132873
dbSNP Id: rs267608573

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030636_154030685del , CM000685.2:g.154030636_154030685del GRCh38
NC_000023.10:g.153296087_153296136del , CM000685.1:g.153296087_153296136del GRCh37
NC_000023.9:g.152949281_152949330del NCBI36
NG_007107.2:g.111445_111494del
NG_007107.3:g.111421_111470del

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.1145_1194del MANE Plus Clinical ENSP00000301948.6:p.Leu382ProfsTer6
ENST00000453960.7:c.1181_1230del MANE Select ENSP00000395535.2:p.Leu394ProfsTer6
ENST00000303391.10:c.1145_1194del ENSP00000301948.6:p.Leu382ProfsTer6
ENST00000407218.5:c.*517_*566del ENSP00000384865.2:n.*517_*566del
ENST00000453960.6:c.1181_1230del ENSP00000395535.2:p.Leu394ProfsTer6
ENST00000619732.4:c.1145_1194del ENSP00000480973.1:p.Leu382ProfsTer6
ENST00000628176.2:c.*517_*566del ENSP00000486978.1:n.*517_*566del
NM_001110792.1:c.1181_1230del NP_001104262.1:p.Leu394ProfsTer6
NM_001316337.1:c.866_915del NP_001303266.1:p.Leu289ProfsTer6
NM_004992.3:c.1145_1194del NP_004983.1:p.Leu382ProfsTer6
XM_005274681.3:c.1145_1194del XP_005274738.1:p.Leu382ProfsTer6
XM_005274682.3:c.866_915del XP_005274739.1:p.Leu289ProfsTer6
XM_005274683.3:c.866_915del XP_005274740.1:p.Leu289ProfsTer6
XM_006724819.2:c.476_525del XP_006724882.1:p.Leu159ProfsTer6
XM_011531166.1:c.866_915del XP_011529468.1:p.Leu289ProfsTer6
XM_006724819.3:c.476_525del XP_006724882.1:p.Leu159ProfsTer6
XM_011531166.2:c.866_915del XP_011529468.1:p.Leu289ProfsTer6
XM_024452383.1:c.866_915del XP_024308151.1:p.Leu289ProfsTer6
XM_024452384.1:c.866_915del XP_024308152.1:p.Leu289ProfsTer6
NM_001110792.2:c.1181_1230del MANE Select NP_001104262.1:p.Leu394ProfsTer6
NM_001316337.2:c.866_915del NP_001303266.1:p.Leu289ProfsTer6
NM_001369391.2:c.866_915del NP_001356320.1:p.Leu289ProfsTer6
NM_001369392.2:c.866_915del NP_001356321.1:p.Leu289ProfsTer6
NM_001369393.2:c.866_915del NP_001356322.1:p.Leu289ProfsTer6
NM_001369394.1:c.866_915del NP_001356323.1:p.Leu289ProfsTer6
NM_001369394.2:c.866_915del NP_001356323.1:p.Leu289ProfsTer6
NM_001386137.1:c.476_525del NP_001373066.1:p.Leu159ProfsTer6
NM_001386138.1:c.476_525del NP_001373067.1:p.Leu159ProfsTer6
NM_001386139.1:c.476_525del NP_001373068.1:p.Leu159ProfsTer6
NM_004992.4:c.1145_1194del MANE Plus Clinical NP_004983.1:p.Leu382ProfsTer6