Linked Data
ClinVar Variation Id:
93556
dbSNP Id:
rs398123566
ExAC:
X:153363099 C / CGCG
gnomAD v2:
X-153363099-C-CGCG
gnomAD v3:
X-154097642-C-CGCG
gnomAD v4:
X-154097642-C-CGCG
MyVariant Identifiers:
chrX:g.153363100_153363102dup (hg19)
chrX:g.153363100_153363102dupGCG (hg19)
chrX:g.153363108_153363109insGCG (hg19)
chrX:g.153363102_153363103insGCG (hg19)
chrX:g.153363099_153363100insGCG (hg19)
chrX:g.154097643_154097645dupGCG (hg38)
chrX:g.154097645_154097646insGCG (hg38)
chrX:g.154097642_154097643insGCG (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097660_154097662dup , CM000685.2:g.154097660_154097662dup | GRCh38 |
| NC_000023.10:g.153363117_153363119dup , CM000685.1:g.153363117_153363119dup | GRCh37 |
| NC_000023.9:g.153016311_153016313dup | NCBI36 |
| NG_007107.2:g.44477_44479dup | |
| NG_007107.3:g.44459_44461dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.-140_-138dup MANE Plus Clinical | ENSP00000301948.6:n.-140_-138dup | |
| ENST00000453960.7:c.21_23dup MANE Select | ENSP00000395535.2:p.Ala8_Pro9insAla | |
| ENST00000303391.10:c.-140_-138dup | ENSP00000301948.6:n.-140_-138dup | |
| ENST00000369957.5:c.-140_-138dup | ENSP00000358973.4:n.-140_-138dup | |
| ENST00000407218.5:c.21_23dup | ENSP00000384865.2:p.Ala8_Pro9insAla | |
| ENST00000453960.6:c.21_23dup | ENSP00000395535.2:p.Ala8_Pro9insAla | |
| ENST00000619732.4:c.-140_-138dup | ENSP00000480973.1:n.-140_-138dup | |
| ENST00000627864.1:n.36_38dup | ||
| ENST00000628176.2:c.-140_-138dup | ENSP00000486978.1:n.-140_-138dup | |
| ENST00000631210.1:n.305+7136_305+7138dup | ||
| NM_001110792.1:c.21_23dup | NP_001104262.1:p.Ala8_Pro9insAla | |
| NM_001316337.1:c.-587_-585dup | NP_001303266.1:n.-587_-585dup | |
| NM_004992.3:c.-140_-138dup | NP_004983.1:n.-140_-138dup | |
| XM_005274682.3:c.-531_-529dup | XP_005274739.1:n.-531_-529dup | |
| NM_001110792.2:c.21_23dup MANE Select | NP_001104262.1:p.Ala8_Pro9insAla | |
| NM_001316337.2:c.-587_-585dup | NP_001303266.1:n.-587_-585dup | |
| NM_001369391.2:c.-882_-880dup | NP_001356320.1:n.-882_-880dup | |
| NM_001369392.2:c.-531_-529dup | NP_001356321.1:n.-531_-529dup | |
| NM_001369393.2:c.-407_-405dup | NP_001356322.1:n.-407_-405dup | |
| NM_001386137.1:c.-812_-810dup | NP_001373066.1:n.-812_-810dup | |
| NM_001386138.1:c.-700_-698dup | NP_001373067.1:n.-700_-698dup | |
| NM_001386139.1:c.-576_-574dup | NP_001373068.1:n.-576_-574dup | |
| NM_004992.4:c.-140_-138dup MANE Plus Clinical | NP_004983.1:n.-140_-138dup |