Canonical Allele Identifier: CA16621554
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424884
ClinVar RCV Id: RCV000488216
dbSNP Id: rs1064797104
MyVariant Identifiers: chrX:g.153296505_153296529dup (hg19) chrX:g.153296504_153296505insCTCAGCTTTTCGCTTCCTGCCGGGG (hg19) chrX:g.154031054_154031078dup (hg38) chrX:g.154031053_154031054insCTCAGCTTTTCGCTTCCTGCCGGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154031055_154031079dup , CM000685.2:g.154031055_154031079dup GRCh38
NC_000023.10:g.153296506_153296530dup , CM000685.1:g.153296506_153296530dup GRCh37
NC_000023.9:g.152949700_152949724dup NCBI36
NG_007107.2:g.111050_111074dup
NG_007107.3:g.111026_111050dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303391.11:c.750_774dup MANE Plus Clinical ENSP00000301948.6:p.Ala259ProfsTer8
ENST00000453960.7:c.786_810dup MANE Select ENSP00000395535.2:p.Ala271ProfsTer8
ENST00000637917.1:c.66-142_66-118dup
ENST00000303391.10:c.750_774dup ENSP00000301948.6:p.Ala259ProfsTer8
ENST00000407218.5:c.*122_*146dup ENSP00000384865.2:n.*122_*146dup
ENST00000453960.6:c.786_810dup ENSP00000395535.2:p.Ala271ProfsTer8
ENST00000619732.4:c.750_774dup ENSP00000480973.1:p.Ala259ProfsTer8
ENST00000622433.4:c.738_762dup ENSP00000484470.1:p.Ala255ProfsTer8
ENST00000628176.2:c.*122_*146dup ENSP00000486978.1:n.*122_*146dup
NM_001110792.1:c.786_810dup NP_001104262.1:p.Ala271ProfsTer8
NM_001316337.1:c.471_495dup NP_001303266.1:p.Ala166ProfsTer8
NM_004992.3:c.750_774dup NP_004983.1:p.Ala259ProfsTer8
XM_005274681.3:c.750_774dup XP_005274738.1:p.Ala259ProfsTer8
XM_005274682.3:c.471_495dup XP_005274739.1:p.Ala166ProfsTer8
XM_005274683.3:c.471_495dup XP_005274740.1:p.Ala166ProfsTer8
XM_006724819.2:c.81_105dup XP_006724882.1:p.Ala36ProfsTer8
XM_011531166.1:c.471_495dup XP_011529468.1:p.Ala166ProfsTer8
XM_006724819.3:c.81_105dup XP_006724882.1:p.Ala36ProfsTer8
XM_011531166.2:c.471_495dup XP_011529468.1:p.Ala166ProfsTer8
XM_024452383.1:c.471_495dup XP_024308151.1:p.Ala166ProfsTer8
XM_024452384.1:c.471_495dup XP_024308152.1:p.Ala166ProfsTer8
NM_001110792.2:c.786_810dup MANE Select NP_001104262.1:p.Ala271ProfsTer8
NM_001316337.2:c.471_495dup NP_001303266.1:p.Ala166ProfsTer8
NM_001369391.2:c.471_495dup NP_001356320.1:p.Ala166ProfsTer8
NM_001369392.2:c.471_495dup NP_001356321.1:p.Ala166ProfsTer8
NM_001369393.2:c.471_495dup NP_001356322.1:p.Ala166ProfsTer8
NM_001369394.1:c.471_495dup NP_001356323.1:p.Ala166ProfsTer8
NM_001369394.2:c.471_495dup NP_001356323.1:p.Ala166ProfsTer8
NM_001386137.1:c.81_105dup NP_001373066.1:p.Ala36ProfsTer8
NM_001386138.1:c.81_105dup NP_001373067.1:p.Ala36ProfsTer8
NM_001386139.1:c.81_105dup NP_001373068.1:p.Ala36ProfsTer8
NM_004992.4:c.750_774dup MANE Plus Clinical NP_004983.1:p.Ala259ProfsTer8
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