Linked Data
ClinVar Variation Id:
189762
dbSNP Id:
rs398123566
gnomAD v2:
X-153363099-C-CGCGGCGGCG
gnomAD v3:
X-154097642-C-CGCGGCGGCG
gnomAD v4:
X-154097642-C-CGCGGCGGCG
MyVariant Identifiers:
chrX:g.153363100_153363108dupGCGGCGGCG (hg19)
chrX:g.153363108_153363109insGCGGCGGCG (hg19)
chrX:g.153363099_153363100insGCGGCGGCG (hg19)
chrX:g.154097643_154097651dupGCGGCGGCG (hg38)
chrX:g.154097642_154097643insGCGGCGGCG (hg38)
PubMed:
PMID:17171659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097654_154097662dup , CM000685.2:g.154097654_154097662dup | GRCh38 |
| NC_000023.10:g.153363111_153363119dup , CM000685.1:g.153363111_153363119dup | GRCh37 |
| NC_000023.9:g.153016305_153016313dup | NCBI36 |
| NG_007107.2:g.44471_44479dup | |
| NG_007107.3:g.44453_44461dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.-146_-138dup MANE Plus Clinical | ENSP00000301948.6:n.-146_-138dup | |
| ENST00000453960.7:c.15_23dup MANE Select | ENSP00000395535.2:p.Ala8_Pro9insAlaAlaAla... | |
| ENST00000303391.10:c.-146_-138dup | ENSP00000301948.6:n.-146_-138dup | |
| ENST00000369957.5:c.-146_-138dup | ENSP00000358973.4:n.-146_-138dup | |
| ENST00000407218.5:c.15_23dup | ENSP00000384865.2:p.Ala8_Pro9insAlaAlaAla... | |
| ENST00000453960.6:c.15_23dup | ENSP00000395535.2:p.Ala8_Pro9insAlaAlaAla... | |
| ENST00000619732.4:c.-146_-138dup | ENSP00000480973.1:n.-146_-138dup | |
| ENST00000627864.1:n.30_38dup | ||
| ENST00000628176.2:c.-146_-138dup | ENSP00000486978.1:n.-146_-138dup | |
| ENST00000631210.1:n.305+7130_305+7138dup | ||
| NM_001110792.1:c.15_23dup | NP_001104262.1:p.Ala8_Pro9insAlaAlaAla | |
| NM_001316337.1:c.-593_-585dup | NP_001303266.1:n.-593_-585dup | |
| NM_004992.3:c.-146_-138dup | NP_004983.1:n.-146_-138dup | |
| XM_005274682.3:c.-537_-529dup | XP_005274739.1:n.-537_-529dup | |
| NM_001110792.2:c.15_23dup MANE Select | NP_001104262.1:p.Ala8_Pro9insAlaAlaAla | |
| NM_001316337.2:c.-593_-585dup | NP_001303266.1:n.-593_-585dup | |
| NM_001369391.2:c.-888_-880dup | NP_001356320.1:n.-888_-880dup | |
| NM_001369392.2:c.-537_-529dup | NP_001356321.1:n.-537_-529dup | |
| NM_001369393.2:c.-413_-405dup | NP_001356322.1:n.-413_-405dup | |
| NM_001386137.1:c.-818_-810dup | NP_001373066.1:n.-818_-810dup | |
| NM_001386138.1:c.-706_-698dup | NP_001373067.1:n.-706_-698dup | |
| NM_001386139.1:c.-582_-574dup | NP_001373068.1:n.-582_-574dup | |
| NM_004992.4:c.-146_-138dup MANE Plus Clinical | NP_004983.1:n.-146_-138dup |