Canonical Allele Identifier: CA270434
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143588
ClinVar RCV Id: RCV000133126
dbSNP Id: rs267608482
MyVariant Identifiers: chrX:g.153296809dupA (hg19) chrX:g.153296808_153296809insA (hg19) chrX:g.154031358dupA (hg38) chrX:g.154031357_154031358insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031359dup , CM000685.2:g.154031359dup GRCh38
NC_000023.10:g.153296810dup , CM000685.1:g.153296810dup GRCh37
NC_000023.9:g.152950004dup NCBI36
NG_007107.2:g.110770dup
NG_007107.3:g.110746dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.470dup MANE Plus Clinical ENSP00000301948.6:p.Thr158HisfsTer17
ENST00000453960.7:c.506dup MANE Select ENSP00000395535.2:p.Thr170HisfsTer17
ENST00000637917.1:c.65+38dup
ENST00000303391.10:c.470dup ENSP00000301948.6:p.Thr158HisfsTer17
ENST00000407218.5:c.468+38dup ENSP00000384865.2:n.468+38dup
ENST00000453960.6:c.506dup ENSP00000395535.2:p.Thr170HisfsTer17
ENST00000486506.5:n.2818dup
ENST00000611468.1:c.458dup ENSP00000479736.1:p.Thr154HisfsTer?
ENST00000619732.4:c.470dup ENSP00000480973.1:p.Thr158HisfsTer17
ENST00000622433.4:c.458dup ENSP00000484470.1:p.Thr154HisfsTer17
ENST00000628176.2:c.432+38dup ENSP00000486978.1:n.432+38dup
NM_001110792.1:c.506dup NP_001104262.1:p.Thr170HisfsTer17
NM_001316337.1:c.191dup NP_001303266.1:p.Thr65HisfsTer17
NM_004992.3:c.470dup NP_004983.1:p.Thr158HisfsTer17
XM_005274681.3:c.470dup XP_005274738.1:p.Thr158HisfsTer17
XM_005274682.3:c.191dup XP_005274739.1:p.Thr65HisfsTer17
XM_005274683.3:c.191dup XP_005274740.1:p.Thr65HisfsTer17
XM_006724819.2:c.-129+38dup XP_006724882.1:n.-129+38dup
XM_011531166.1:c.191dup XP_011529468.1:p.Thr65HisfsTer17
XM_006724819.3:c.-129+38dup XP_006724882.1:n.-129+38dup
XM_011531166.2:c.191dup XP_011529468.1:p.Thr65HisfsTer17
XM_024452383.1:c.191dup XP_024308151.1:p.Thr65HisfsTer17
XM_024452384.1:c.191dup XP_024308152.1:p.Thr65HisfsTer17
NM_001110792.2:c.506dup MANE Select NP_001104262.1:p.Thr170HisfsTer17
NM_001316337.2:c.191dup NP_001303266.1:p.Thr65HisfsTer17
NM_001369391.2:c.191dup NP_001356320.1:p.Thr65HisfsTer17
NM_001369392.2:c.191dup NP_001356321.1:p.Thr65HisfsTer17
NM_001369393.2:c.191dup NP_001356322.1:p.Thr65HisfsTer17
NM_001369394.1:c.191dup NP_001356323.1:p.Thr65HisfsTer17
NM_001369394.2:c.191dup NP_001356323.1:p.Thr65HisfsTer17
NM_001386137.1:c.-129+38dup NP_001373066.1:n.-129+38dup
NM_001386138.1:c.-129+38dup NP_001373067.1:n.-129+38dup
NM_001386139.1:c.-129+38dup NP_001373068.1:n.-129+38dup
NM_004992.4:c.470dup MANE Plus Clinical NP_004983.1:p.Thr158HisfsTer17
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