Canonical Allele Identifier: CA270290
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143484
ClinVar RCV Id: RCV000133015
dbSNP Id: rs267608638
MyVariant Identifiers: chrX:g.153295826_153295827dupCT (hg19) chrX:g.153295825_153295826insCT (hg19) chrX:g.154030375_154030376dupCT (hg38) chrX:g.154030374_154030375insCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030380_154030381dup , CM000685.2:g.154030380_154030381dup GRCh38
NC_000023.10:g.153295831_153295832dup , CM000685.1:g.153295831_153295832dup GRCh37
NC_000023.9:g.152949025_152949026dup NCBI36
NG_007107.2:g.111752_111753dup
NG_007107.3:g.111728_111729dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.1452_1453dup MANE Plus Clinical ENSP00000301948.6:p.Val485GlufsTer28
ENST00000453960.7:c.1488_1489dup MANE Select ENSP00000395535.2:p.Val497GlufsTer28
ENST00000303391.10:c.1452_1453dup ENSP00000301948.6:p.Val485GlufsTer28
ENST00000453960.6:c.1488_1489dup ENSP00000395535.2:p.Val497GlufsTer28
ENST00000619732.4:c.1450-2_1450-1dup
ENST00000628176.2:c.*824_*825dup ENSP00000486978.1:n.*824_*825dup
NM_001110792.1:c.1488_1489dup NP_001104262.1:p.Val497GlufsTer28
NM_001316337.1:c.1173_1174dup NP_001303266.1:p.Val392GlufsTer28
NM_004992.3:c.1452_1453dup NP_004983.1:p.Val485GlufsTer28
XM_005274681.3:c.1452_1453dup XP_005274738.1:p.Val485GlufsTer28
XM_005274682.3:c.1173_1174dup XP_005274739.1:p.Val392GlufsTer28
XM_005274683.3:c.1173_1174dup XP_005274740.1:p.Val392GlufsTer28
XM_006724819.2:c.783_784dup XP_006724882.1:p.Val262GlufsTer28
XM_011531166.1:c.1173_1174dup XP_011529468.1:p.Val392GlufsTer28
XM_006724819.3:c.783_784dup XP_006724882.1:p.Val262GlufsTer28
XM_011531166.2:c.1173_1174dup XP_011529468.1:p.Val392GlufsTer28
XM_024452383.1:c.1173_1174dup XP_024308151.1:p.Val392GlufsTer28
XM_024452384.1:c.1173_1174dup XP_024308152.1:p.Val392GlufsTer28
NM_001110792.2:c.1488_1489dup MANE Select NP_001104262.1:p.Val497GlufsTer28
NM_001316337.2:c.1173_1174dup NP_001303266.1:p.Val392GlufsTer28
NM_001369391.2:c.1173_1174dup NP_001356320.1:p.Val392GlufsTer28
NM_001369392.2:c.1173_1174dup NP_001356321.1:p.Val392GlufsTer28
NM_001369393.2:c.1173_1174dup NP_001356322.1:p.Val392GlufsTer28
NM_001369394.1:c.1173_1174dup NP_001356323.1:p.Val392GlufsTer28
NM_001369394.2:c.1173_1174dup NP_001356323.1:p.Val392GlufsTer28
NM_001386137.1:c.783_784dup NP_001373066.1:p.Val262GlufsTer28
NM_001386138.1:c.783_784dup NP_001373067.1:p.Val262GlufsTer28
NM_001386139.1:c.783_784dup NP_001373068.1:p.Val262GlufsTer28
NM_004992.4:c.1452_1453dup MANE Plus Clinical NP_004983.1:p.Val485GlufsTer28
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