Canonical Allele Identifier: CA232986
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143624
dbSNP Id: rs267608417

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032528dup , CM000685.2:g.154032528dup GRCh38
NC_000023.10:g.153297979dup , CM000685.1:g.153297979dup GRCh37
NC_000023.9:g.152951173dup NCBI36
NG_007107.2:g.109600dup
NG_007107.3:g.109576dup

Transcript Alleles

HGVS Amino-acid change
ENST00000700484.1:n.164dup
ENST00000303391.11:c.56dup MANE Plus Clinical ENSP00000301948.6:p.Leu21ProfsTer9
ENST00000453960.7:c.92dup MANE Select ENSP00000395535.2:p.Leu33ProfsTer9
ENST00000611468.2:n.304dup
ENST00000630151.2:c.56dup ENSP00000486089.1:p.Leu21ProfsTer9
ENST00000637533.1:n.87dup
ENST00000675526.1:c.*449dup ENSP00000501710.1:n.*449dup
ENST00000676382.1:n.249dup
ENST00000303391.10:c.56dup ENSP00000301948.6:p.Leu21ProfsTer9
ENST00000369957.5:c.*110dup ENSP00000358973.4:n.*110dup
ENST00000407218.5:c.92dup ENSP00000384865.2:p.Leu33ProfsTer9
ENST00000415944.3:c.56dup ENSP00000416267.1:p.Leu21ProfsTer9
ENST00000453960.6:c.92dup ENSP00000395535.2:p.Leu33ProfsTer9
ENST00000460227.4:n.1205dup
ENST00000463644.5:n.995dup
ENST00000481807.3:n.342dup
ENST00000486506.5:n.2404dup
ENST00000488293.4:n.1105dup
ENST00000496908.5:n.187dup
ENST00000611468.1:c.44dup ENSP00000479736.1:p.Leu17ProfsTer9
ENST00000619732.4:c.56dup ENSP00000480973.1:p.Leu21ProfsTer9
ENST00000622433.4:c.44dup ENSP00000484470.1:p.Leu17ProfsTer9
ENST00000625300.1:n.281dup
ENST00000626422.2:n.766dup
ENST00000628176.2:c.56dup ENSP00000486978.1:p.Leu21ProfsTer9
ENST00000630151.1:c.56dup ENSP00000486089.1:p.Leu21ProfsTer9
ENST00000631210.1:n.335dup
NM_001110792.1:c.92dup NP_001104262.1:p.Leu33ProfsTer9
NM_001316337.1:c.-224dup NP_001303266.1:n.-224dup
NM_004992.3:c.56dup NP_004983.1:p.Leu21ProfsTer9
XM_005274681.3:c.56dup XP_005274738.1:p.Leu21ProfsTer9
XM_005274682.3:c.-224dup XP_005274739.1:n.-224dup
XM_005274683.3:c.-224dup XP_005274740.1:n.-224dup
XM_011531166.1:c.-224dup XP_011529468.1:n.-224dup
XM_006724819.3:c.-505dup XP_006724882.1:n.-505dup
XM_011531166.2:c.-224dup XP_011529468.1:n.-224dup
XM_024452383.1:c.-224dup XP_024308151.1:n.-224dup
XM_024452384.1:c.-224dup XP_024308152.1:n.-224dup
NM_001110792.2:c.92dup MANE Select NP_001104262.1:p.Leu33ProfsTer9
NM_001316337.2:c.-224dup NP_001303266.1:n.-224dup
NM_001369391.2:c.-224dup NP_001356320.1:n.-224dup
NM_001369392.2:c.-224dup NP_001356321.1:n.-224dup
NM_001369393.2:c.-224dup NP_001356322.1:n.-224dup
NM_001369394.1:c.-224dup NP_001356323.1:n.-224dup
NM_001369394.2:c.-224dup NP_001356323.1:n.-224dup
NM_001386137.1:c.-505dup NP_001373066.1:n.-505dup
NM_001386138.1:c.-505dup NP_001373067.1:n.-505dup
NM_001386139.1:c.-505dup NP_001373068.1:n.-505dup
NM_004992.4:c.56dup MANE Plus Clinical NP_004983.1:p.Leu21ProfsTer9