Canonical Allele Identifier: CA2695202179
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3066417
ClinVar RCV Id: RCV003991421

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030444_154030445del , CM000685.2:g.154030444_154030445del GRCh38
NC_000023.10:g.153295895_153295896del , CM000685.1:g.153295895_153295896del GRCh37
NC_000023.9:g.152949089_152949090del NCBI36
NG_007107.2:g.111684_111685del
NG_007107.3:g.111660_111661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.1384_1385del MANE Plus Clinical ENSP00000301948.6:p.Val462PhefsTer24
ENST00000453960.7:c.1420_1421del MANE Select ENSP00000395535.2:p.Val474PhefsTer24
ENST00000303391.10:c.1384_1385del ENSP00000301948.6:p.Val462PhefsTer24
ENST00000453960.6:c.1420_1421del ENSP00000395535.2:p.Val474PhefsTer24
ENST00000619732.4:c.1384_1385del ENSP00000480973.1:p.Val462PhefsTer24
ENST00000628176.2:c.*756_*757del ENSP00000486978.1:n.*756_*757del
NM_001110792.1:c.1420_1421del NP_001104262.1:p.Val474PhefsTer24
NM_001316337.1:c.1105_1106del NP_001303266.1:p.Val369PhefsTer24
NM_004992.3:c.1384_1385del NP_004983.1:p.Val462PhefsTer24
XM_005274681.3:c.1384_1385del XP_005274738.1:p.Val462PhefsTer24
XM_005274682.3:c.1105_1106del XP_005274739.1:p.Val369PhefsTer24
XM_005274683.3:c.1105_1106del XP_005274740.1:p.Val369PhefsTer24
XM_006724819.2:c.715_716del XP_006724882.1:p.Val239PhefsTer24
XM_011531166.1:c.1105_1106del XP_011529468.1:p.Val369PhefsTer24
XM_006724819.3:c.715_716del XP_006724882.1:p.Val239PhefsTer24
XM_011531166.2:c.1105_1106del XP_011529468.1:p.Val369PhefsTer24
XM_024452383.1:c.1105_1106del XP_024308151.1:p.Val369PhefsTer24
XM_024452384.1:c.1105_1106del XP_024308152.1:p.Val369PhefsTer24
NM_001110792.2:c.1420_1421del MANE Select NP_001104262.1:p.Val474PhefsTer24
NM_001316337.2:c.1105_1106del NP_001303266.1:p.Val369PhefsTer24
NM_001369391.2:c.1105_1106del NP_001356320.1:p.Val369PhefsTer24
NM_001369392.2:c.1105_1106del NP_001356321.1:p.Val369PhefsTer24
NM_001369393.2:c.1105_1106del NP_001356322.1:p.Val369PhefsTer24
NM_001369394.1:c.1105_1106del NP_001356323.1:p.Val369PhefsTer24
NM_001369394.2:c.1105_1106del NP_001356323.1:p.Val369PhefsTer24
NM_001386137.1:c.715_716del NP_001373066.1:p.Val239PhefsTer24
NM_001386138.1:c.715_716del NP_001373067.1:p.Val239PhefsTer24
NM_001386139.1:c.715_716del NP_001373068.1:p.Val239PhefsTer24
NM_004992.4:c.1384_1385del MANE Plus Clinical NP_004983.1:p.Val462PhefsTer24