Canonical Allele Identifier: CA1139667838
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 976387
dbSNP Id: rs2065989620

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032474_154032475insTGGCCTT , CM000685.2:g.154032474_154032475insTGGCCTT GRCh38
NC_000023.10:g.153297925_153297926insTGGCCTT , CM000685.1:g.153297925_153297926insTGGCCTT GRCh37
NC_000023.9:g.152951119_152951120insTGGCCTT NCBI36
NG_007107.2:g.109656_109657insGCCAAAG
NG_007107.3:g.109632_109633insGCCAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.112_113insGCCAAAG MANE Plus Clinical ENSP00000301948.6:p.Glu38GlyfsTer9
ENST00000453960.7:c.148_149insGCCAAAG MANE Select ENSP00000395535.2:p.Glu50GlyfsTer9
ENST00000611468.2:n.360_361insGCCAAAG
ENST00000630151.2:c.112_113insGCCAAAG ENSP00000486089.1:p.Glu38GlyfsTer?
ENST00000676382.1:n.305_306insGCCAAAG
ENST00000303391.10:c.112_113insGCCAAAG ENSP00000301948.6:p.Glu38GlyfsTer9
ENST00000369957.5:c.*166_*167insGCCAAAG ENSP00000358973.4:n.*166_*167insGCCAAAG
ENST00000407218.5:c.148_149insGCCAAAG ENSP00000384865.2:p.Glu50GlyfsTer9
ENST00000415944.3:c.112_113insGCCAAAG ENSP00000416267.1:p.Glu38GlyfsTer9
ENST00000453960.6:c.148_149insGCCAAAG ENSP00000395535.2:p.Glu50GlyfsTer9
ENST00000460227.4:n.1261_1262insGCCAAAG
ENST00000463644.5:n.1051_1052insGCCAAAG
ENST00000481807.3:n.398_399insGCCAAAG
ENST00000486506.5:n.2460_2461insGCCAAAG
ENST00000488293.4:n.1161_1162insGCCAAAG
ENST00000496908.5:n.243_244insGCCAAAG
ENST00000611468.1:c.100_101insGCCAAAG ENSP00000479736.1:p.Glu34GlyfsTer9
ENST00000619732.4:c.112_113insGCCAAAG ENSP00000480973.1:p.Glu38GlyfsTer9
ENST00000622433.4:c.100_101insGCCAAAG ENSP00000484470.1:p.Glu34GlyfsTer9
ENST00000625300.1:n.337_338insGCCAAAG
ENST00000626422.2:n.822_823insGCCAAAG
ENST00000628176.2:c.112_113insGCCAAAG ENSP00000486978.1:p.Glu38GlyfsTer9
ENST00000630151.1:c.112_113insGCCAAAG ENSP00000486089.1:p.Glu38GlyfsTer?
ENST00000631210.1:n.391_392insGCCAAAG
NM_001110792.1:c.148_149insGCCAAAG NP_001104262.1:p.Glu50GlyfsTer9
NM_001316337.1:c.-168_-167insGCCAAAG NP_001303266.1:n.-168_-167insGCCAAAG
NM_004992.3:c.112_113insGCCAAAG NP_004983.1:p.Glu38GlyfsTer9
XM_005274681.3:c.112_113insGCCAAAG XP_005274738.1:p.Glu38GlyfsTer9
XM_005274682.3:c.-168_-167insGCCAAAG XP_005274739.1:n.-168_-167insGCCAAAG
XM_005274683.3:c.-168_-167insGCCAAAG XP_005274740.1:n.-168_-167insGCCAAAG
XM_011531166.1:c.-168_-167insGCCAAAG XP_011529468.1:n.-168_-167insGCCAAAG
XM_006724819.3:c.-449_-448insGCCAAAG XP_006724882.1:n.-449_-448insGCCAAAG
XM_011531166.2:c.-168_-167insGCCAAAG XP_011529468.1:n.-168_-167insGCCAAAG
XM_024452383.1:c.-168_-167insGCCAAAG XP_024308151.1:n.-168_-167insGCCAAAG
XM_024452384.1:c.-168_-167insGCCAAAG XP_024308152.1:n.-168_-167insGCCAAAG
NM_001110792.2:c.148_149insGCCAAAG MANE Select NP_001104262.1:p.Glu50GlyfsTer9
NM_001316337.2:c.-168_-167insGCCAAAG NP_001303266.1:n.-168_-167insGCCAAAG
NM_001369391.2:c.-168_-167insGCCAAAG NP_001356320.1:n.-168_-167insGCCAAAG
NM_001369392.2:c.-168_-167insGCCAAAG NP_001356321.1:n.-168_-167insGCCAAAG
NM_001369393.2:c.-168_-167insGCCAAAG NP_001356322.1:n.-168_-167insGCCAAAG
NM_001369394.1:c.-168_-167insGCCAAAG NP_001356323.1:n.-168_-167insGCCAAAG
NM_001369394.2:c.-168_-167insGCCAAAG NP_001356323.1:n.-168_-167insGCCAAAG
NM_001386137.1:c.-449_-448insGCCAAAG NP_001373066.1:n.-449_-448insGCCAAAG
NM_001386138.1:c.-449_-448insGCCAAAG NP_001373067.1:n.-449_-448insGCCAAAG
NM_001386139.1:c.-449_-448insGCCAAAG NP_001373068.1:n.-449_-448insGCCAAAG
NM_004992.4:c.112_113insGCCAAAG MANE Plus Clinical NP_004983.1:p.Glu38GlyfsTer9