Canonical Allele Identifier: CA233199
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143688
dbSNP Id: rs61749751

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031078dup , CM000685.2:g.154031078dup GRCh38
NC_000023.10:g.153296529dup , CM000685.1:g.153296529dup GRCh37
NC_000023.9:g.152949723dup NCBI36
NG_007107.2:g.111053dup
NG_007107.3:g.111029dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.753dup MANE Plus Clinical ENSP00000301948.6:p.Gly252ArgfsTer7
ENST00000453960.7:c.789dup MANE Select ENSP00000395535.2:p.Gly264ArgfsTer7
ENST00000637917.1:c.66-139dup
ENST00000303391.10:c.753dup ENSP00000301948.6:p.Gly252ArgfsTer7
ENST00000407218.5:c.*125dup ENSP00000384865.2:n.*125dup
ENST00000453960.6:c.789dup ENSP00000395535.2:p.Gly264ArgfsTer7
ENST00000619732.4:c.753dup ENSP00000480973.1:p.Gly252ArgfsTer7
ENST00000622433.4:c.741dup ENSP00000484470.1:p.Gly248ArgfsTer7
ENST00000628176.2:c.*125dup ENSP00000486978.1:n.*125dup
NM_001110792.1:c.789dup NP_001104262.1:p.Gly264ArgfsTer7
NM_001316337.1:c.474dup NP_001303266.1:p.Gly159ArgfsTer7
NM_004992.3:c.753dup NP_004983.1:p.Gly252ArgfsTer7
XM_005274681.3:c.753dup XP_005274738.1:p.Gly252ArgfsTer7
XM_005274682.3:c.474dup XP_005274739.1:p.Gly159ArgfsTer7
XM_005274683.3:c.474dup XP_005274740.1:p.Gly159ArgfsTer7
XM_006724819.2:c.84dup XP_006724882.1:p.Gly29ArgfsTer7
XM_011531166.1:c.474dup XP_011529468.1:p.Gly159ArgfsTer7
XM_006724819.3:c.84dup XP_006724882.1:p.Gly29ArgfsTer7
XM_011531166.2:c.474dup XP_011529468.1:p.Gly159ArgfsTer7
XM_024452383.1:c.474dup XP_024308151.1:p.Gly159ArgfsTer7
XM_024452384.1:c.474dup XP_024308152.1:p.Gly159ArgfsTer7
NM_001110792.2:c.789dup MANE Select NP_001104262.1:p.Gly264ArgfsTer7
NM_001316337.2:c.474dup NP_001303266.1:p.Gly159ArgfsTer7
NM_001369391.2:c.474dup NP_001356320.1:p.Gly159ArgfsTer7
NM_001369392.2:c.474dup NP_001356321.1:p.Gly159ArgfsTer7
NM_001369393.2:c.474dup NP_001356322.1:p.Gly159ArgfsTer7
NM_001369394.1:c.474dup NP_001356323.1:p.Gly159ArgfsTer7
NM_001369394.2:c.474dup NP_001356323.1:p.Gly159ArgfsTer7
NM_001386137.1:c.84dup NP_001373066.1:p.Gly29ArgfsTer7
NM_001386138.1:c.84dup NP_001373067.1:p.Gly29ArgfsTer7
NM_001386139.1:c.84dup NP_001373068.1:p.Gly29ArgfsTer7
NM_004992.4:c.753dup MANE Plus Clinical NP_004983.1:p.Gly252ArgfsTer7