Canonical Allele Identifier: CA270508
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143670
ClinVar RCV Id: RCV000133212
dbSNP Id: rs267608518

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031109dup , CM000685.2:g.154031109dup GRCh38
NC_000023.10:g.153296560dup , CM000685.1:g.153296560dup GRCh37
NC_000023.9:g.152949754dup NCBI36
NG_007107.2:g.111020dup
NG_007107.3:g.110996dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.720dup MANE Plus Clinical ENSP00000301948.6:p.Thr241HisfsTer18
ENST00000453960.7:c.756dup MANE Select ENSP00000395535.2:p.Thr253HisfsTer18
ENST00000637917.1:c.66-172dup
ENST00000303391.10:c.720dup ENSP00000301948.6:p.Thr241HisfsTer18
ENST00000407218.5:c.*92dup ENSP00000384865.2:n.*92dup
ENST00000453960.6:c.756dup ENSP00000395535.2:p.Thr253HisfsTer18
ENST00000619732.4:c.720dup ENSP00000480973.1:p.Thr241HisfsTer18
ENST00000622433.4:c.708dup ENSP00000484470.1:p.Thr237HisfsTer18
ENST00000628176.2:c.*92dup ENSP00000486978.1:n.*92dup
NM_001110792.1:c.756dup NP_001104262.1:p.Thr253HisfsTer18
NM_001316337.1:c.441dup NP_001303266.1:p.Thr148HisfsTer18
NM_004992.3:c.720dup NP_004983.1:p.Thr241HisfsTer18
XM_005274681.3:c.720dup XP_005274738.1:p.Thr241HisfsTer18
XM_005274682.3:c.441dup XP_005274739.1:p.Thr148HisfsTer18
XM_005274683.3:c.441dup XP_005274740.1:p.Thr148HisfsTer18
XM_006724819.2:c.51dup XP_006724882.1:p.Thr18HisfsTer18
XM_011531166.1:c.441dup XP_011529468.1:p.Thr148HisfsTer18
XM_006724819.3:c.51dup XP_006724882.1:p.Thr18HisfsTer18
XM_011531166.2:c.441dup XP_011529468.1:p.Thr148HisfsTer18
XM_024452383.1:c.441dup XP_024308151.1:p.Thr148HisfsTer18
XM_024452384.1:c.441dup XP_024308152.1:p.Thr148HisfsTer18
NM_001110792.2:c.756dup MANE Select NP_001104262.1:p.Thr253HisfsTer18
NM_001316337.2:c.441dup NP_001303266.1:p.Thr148HisfsTer18
NM_001369391.2:c.441dup NP_001356320.1:p.Thr148HisfsTer18
NM_001369392.2:c.441dup NP_001356321.1:p.Thr148HisfsTer18
NM_001369393.2:c.441dup NP_001356322.1:p.Thr148HisfsTer18
NM_001369394.1:c.441dup NP_001356323.1:p.Thr148HisfsTer18
NM_001369394.2:c.441dup NP_001356323.1:p.Thr148HisfsTer18
NM_001386137.1:c.51dup NP_001373066.1:p.Thr18HisfsTer18
NM_001386138.1:c.51dup NP_001373067.1:p.Thr18HisfsTer18
NM_001386139.1:c.51dup NP_001373068.1:p.Thr18HisfsTer18
NM_004992.4:c.720dup MANE Plus Clinical NP_004983.1:p.Thr241HisfsTer18