Linked Data
ClinVar Variation Id:
189763
ClinVar RCV Id:
RCV000144801
RCV000170278
RCV000645135
RCV000714629
RCV001198685
RCV002408732
RCV003227687
RCV003947449
dbSNP Id:
rs398123566
ExAC:
X:153363099 C / CGCGGCG
gnomAD v2:
X-153363099-C-CGCGGCG
gnomAD v3:
X-154097642-C-CGCGGCG
gnomAD v4:
X-154097642-C-CGCGGCG
MyVariant Identifiers:
chrX:g.153363100_153363105dupGCGGCG (hg19)
chrX:g.153363108_153363109insGCGGCG (hg19)
chrX:g.153363102_153363103insGCGGCG (hg19)
chrX:g.153363099_153363100insGCGGCG (hg19)
chrX:g.154097643_154097648dupGCGGCG (hg38)
chrX:g.154097645_154097646insGCGGCG (hg38)
chrX:g.154097642_154097643insGCGGCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097657_154097662dup , CM000685.2:g.154097657_154097662dup | GRCh38 |
| NC_000023.10:g.153363114_153363119dup , CM000685.1:g.153363114_153363119dup | GRCh37 |
| NC_000023.9:g.153016308_153016313dup | NCBI36 |
| NG_007107.2:g.44474_44479dup | |
| NG_007107.3:g.44456_44461dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.-143_-138dup MANE Plus Clinical | ENSP00000301948.6:n.-143_-138dup | |
| ENST00000453960.7:c.18_23dup MANE Select | ENSP00000395535.2:p.Ala8_Pro9insAlaAla | |
| ENST00000303391.10:c.-143_-138dup | ENSP00000301948.6:n.-143_-138dup | |
| ENST00000369957.5:c.-143_-138dup | ENSP00000358973.4:n.-143_-138dup | |
| ENST00000407218.5:c.18_23dup | ENSP00000384865.2:p.Ala8_Pro9insAlaAla | |
| ENST00000453960.6:c.18_23dup | ENSP00000395535.2:p.Ala8_Pro9insAlaAla | |
| ENST00000619732.4:c.-143_-138dup | ENSP00000480973.1:n.-143_-138dup | |
| ENST00000627864.1:n.33_38dup | ||
| ENST00000628176.2:c.-143_-138dup | ENSP00000486978.1:n.-143_-138dup | |
| ENST00000631210.1:n.305+7133_305+7138dup | ||
| NM_001110792.1:c.18_23dup | NP_001104262.1:p.Ala8_Pro9insAlaAla | |
| NM_001316337.1:c.-590_-585dup | NP_001303266.1:n.-590_-585dup | |
| NM_004992.3:c.-143_-138dup | NP_004983.1:n.-143_-138dup | |
| XM_005274682.3:c.-534_-529dup | XP_005274739.1:n.-534_-529dup | |
| NM_001110792.2:c.18_23dup MANE Select | NP_001104262.1:p.Ala8_Pro9insAlaAla | |
| NM_001316337.2:c.-590_-585dup | NP_001303266.1:n.-590_-585dup | |
| NM_001369391.2:c.-885_-880dup | NP_001356320.1:n.-885_-880dup | |
| NM_001369392.2:c.-534_-529dup | NP_001356321.1:n.-534_-529dup | |
| NM_001369393.2:c.-410_-405dup | NP_001356322.1:n.-410_-405dup | |
| NM_001386137.1:c.-815_-810dup | NP_001373066.1:n.-815_-810dup | |
| NM_001386138.1:c.-703_-698dup | NP_001373067.1:n.-703_-698dup | |
| NM_001386139.1:c.-579_-574dup | NP_001373068.1:n.-579_-574dup | |
| NM_004992.4:c.-143_-138dup MANE Plus Clinical | NP_004983.1:n.-143_-138dup |