Canonical Allele Identifier: CA232961
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143514
ClinVar RCV Id: RCV000133045 RCV004527358
dbSNP Id: rs267608405
MyVariant Identifiers: chrX:g.153297758_153297759insC (hg19) chrX:g.154032307_154032308insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032307_154032308insC , CM000685.2:g.154032307_154032308insC GRCh38
NC_000023.10:g.153297758_153297759insC , CM000685.1:g.153297758_153297759insC GRCh37
NC_000023.9:g.152950952_152950953insC NCBI36
NG_007107.2:g.109820_109821insG
NG_007107.3:g.109796_109797insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.276_277insG MANE Plus Clinical ENSP00000301948.6:p.Pro93AlafsTer4
ENST00000453960.7:c.312_313insG MANE Select ENSP00000395535.2:p.Pro105AlafsTer4
ENST00000303391.10:c.276_277insG ENSP00000301948.6:p.Pro93AlafsTer4
ENST00000369957.5:c.*330_*331insG ENSP00000358973.4:n.*330_*331insG
ENST00000407218.5:c.312_313insG ENSP00000384865.2:p.Pro105AlafsTer4
ENST00000453960.6:c.312_313insG ENSP00000395535.2:p.Pro105AlafsTer4
ENST00000486506.5:n.2624_2625insG
ENST00000611468.1:c.264_265insG ENSP00000479736.1:p.Pro89AlafsTer4
ENST00000619732.4:c.276_277insG ENSP00000480973.1:p.Pro93AlafsTer4
ENST00000622433.4:c.264_265insG ENSP00000484470.1:p.Pro89AlafsTer4
ENST00000628176.2:c.276_277insG ENSP00000486978.1:p.Pro93AlafsTer4
NM_001110792.1:c.312_313insG NP_001104262.1:p.Pro105AlafsTer4
NM_001316337.1:c.-4_-3insG NP_001303266.1:n.-4_-3insG
NM_004992.3:c.276_277insG NP_004983.1:p.Pro93AlafsTer4
XM_005274681.3:c.276_277insG XP_005274738.1:p.Pro93AlafsTer4
XM_005274682.3:c.-4_-3insG XP_005274739.1:n.-4_-3insG
XM_005274683.3:c.-4_-3insG XP_005274740.1:n.-4_-3insG
XM_011531166.1:c.-4_-3insG XP_011529468.1:n.-4_-3insG
XM_006724819.3:c.-285_-284insG XP_006724882.1:n.-285_-284insG
XM_011531166.2:c.-4_-3insG XP_011529468.1:n.-4_-3insG
XM_024452383.1:c.-4_-3insG XP_024308151.1:n.-4_-3insG
XM_024452384.1:c.-4_-3insG XP_024308152.1:n.-4_-3insG
NM_001110792.2:c.312_313insG MANE Select NP_001104262.1:p.Pro105AlafsTer4
NM_001316337.2:c.-4_-3insG NP_001303266.1:n.-4_-3insG
NM_001369391.2:c.-4_-3insG NP_001356320.1:n.-4_-3insG
NM_001369392.2:c.-4_-3insG NP_001356321.1:n.-4_-3insG
NM_001369393.2:c.-4_-3insG NP_001356322.1:n.-4_-3insG
NM_001369394.1:c.-4_-3insG NP_001356323.1:n.-4_-3insG
NM_001369394.2:c.-4_-3insG NP_001356323.1:n.-4_-3insG
NM_001386137.1:c.-285_-284insG NP_001373066.1:n.-285_-284insG
NM_001386138.1:c.-285_-284insG NP_001373067.1:n.-285_-284insG
NM_001386139.1:c.-285_-284insG NP_001373068.1:n.-285_-284insG
NM_004992.4:c.276_277insG MANE Plus Clinical NP_004983.1:p.Pro93AlafsTer4
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