Canonical Allele Identifier: CA233015
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143717
ClinVar RCV Id: RCV000133259
dbSNP Id: rs267608535
MyVariant Identifiers: chrX:g.153296415dupC (hg19) chrX:g.153296414_153296415insC (hg19) chrX:g.154030964dupC (hg38) chrX:g.154030963_154030964insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154030964dup , CM000685.2:g.154030964dup GRCh38
NC_000023.10:g.153296415dup , CM000685.1:g.153296415dup GRCh37
NC_000023.9:g.152949609dup NCBI36
NG_007107.2:g.111164dup
NG_007107.3:g.111140dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.864dup MANE Plus Clinical ENSP00000301948.6:p.Lys289GlufsTer?
ENST00000453960.7:c.900dup MANE Select ENSP00000395535.2:p.Lys301GlufsTer?
ENST00000637917.1:c.66-28dup
ENST00000303391.10:c.864dup ENSP00000301948.6:p.Lys289GlufsTer?
ENST00000407218.5:c.*236dup ENSP00000384865.2:n.*236dup
ENST00000453960.6:c.900dup ENSP00000395535.2:p.Lys301GlufsTer?
ENST00000619732.4:c.864dup ENSP00000480973.1:p.Lys289GlufsTer?
ENST00000622433.4:c.852dup ENSP00000484470.1:p.Lys285GlufsTer?
ENST00000628176.2:c.*236dup ENSP00000486978.1:n.*236dup
NM_001110792.1:c.900dup NP_001104262.1:p.Lys301GlufsTer?
NM_001316337.1:c.585dup NP_001303266.1:p.Lys196GlufsTer?
NM_004992.3:c.864dup NP_004983.1:p.Lys289GlufsTer?
XM_005274681.3:c.864dup XP_005274738.1:p.Lys289GlufsTer?
XM_005274682.3:c.585dup XP_005274739.1:p.Lys196GlufsTer?
XM_005274683.3:c.585dup XP_005274740.1:p.Lys196GlufsTer?
XM_006724819.2:c.195dup XP_006724882.1:p.Lys66GlufsTer?
XM_011531166.1:c.585dup XP_011529468.1:p.Lys196GlufsTer?
XM_006724819.3:c.195dup XP_006724882.1:p.Lys66GlufsTer?
XM_011531166.2:c.585dup XP_011529468.1:p.Lys196GlufsTer?
XM_024452383.1:c.585dup XP_024308151.1:p.Lys196GlufsTer?
XM_024452384.1:c.585dup XP_024308152.1:p.Lys196GlufsTer?
NM_001110792.2:c.900dup MANE Select NP_001104262.1:p.Lys301GlufsTer?
NM_001316337.2:c.585dup NP_001303266.1:p.Lys196GlufsTer?
NM_001369391.2:c.585dup NP_001356320.1:p.Lys196GlufsTer?
NM_001369392.2:c.585dup NP_001356321.1:p.Lys196GlufsTer?
NM_001369393.2:c.585dup NP_001356322.1:p.Lys196GlufsTer?
NM_001369394.1:c.585dup NP_001356323.1:p.Lys196GlufsTer?
NM_001369394.2:c.585dup NP_001356323.1:p.Lys196GlufsTer?
NM_001386137.1:c.195dup NP_001373066.1:p.Lys66GlufsTer?
NM_001386138.1:c.195dup NP_001373067.1:p.Lys66GlufsTer?
NM_001386139.1:c.195dup NP_001373068.1:p.Lys66GlufsTer?
NM_004992.4:c.864dup MANE Plus Clinical NP_004983.1:p.Lys289GlufsTer?
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