Linked Data
ClinVar Variation Id:
189656
ClinVar RCV Id:
RCV000170140
dbSNP Id:
rs1557134378
MyVariant Identifiers:
chrX:g.153295250_153296150delinsCCACGG (hg19)
chrX:g.154029799_154030699delinsCCACGG (hg38)
PubMed:
PMID:16473305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154029799_154030699delinsCCACGG , CM000685.2:g.154029799_154030699delinsCCACGG | GRCh38 |
| NC_000023.10:g.153295250_153296150delinsCCACGG , CM000685.1:g.153295250_153296150delinsCCACGG | GRCh37 |
| NC_000023.9:g.152948444_152949344delinsCCACGG | NCBI36 |
| NG_007107.2:g.111429_112329delinsCCGTGG | |
| NG_007107.3:g.111405_112305delinsCCGTGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.1129_*568delinsCCGTGG MANE Plus Clinical | ENSP00000301948.6:n.[c.1129_*568delinsCCG... | |
| ENST00000453960.7:c.1165_*568delinsCCGTGG MANE Select | ENSP00000395535.2:n.[c.1165_*568delinsCCG... | |
| ENST00000303391.10:c.1129_*568delinsCCGTGG | ENSP00000301948.6:n.[c.1129_*568delinsCCG... | |
| ENST00000619732.4:c.1129_*495delinsCCGTGG | ||
| NM_004992.3:c.1129_*568delinsCCGTGG | NP_004983.1:n.[c.1129_*568delinsCCGTGG;Ly... | |
| XM_005274681.3:c.1129_*568delinsCCGTGG | XP_005274738.1:n.[c.1129_*568delinsCCGTGG... | |
| XM_005274682.3:c.850_*568delinsCCGTGG | XP_005274739.1:n.[c.850_*568delinsCCGTGG;... | |
| XM_005274683.3:c.850_*568delinsCCGTGG | XP_005274740.1:n.[c.850_*568delinsCCGTGG;... | |
| XM_006724819.2:c.460_*568delinsCCGTGG | XP_006724882.1:n.[c.460_*568delinsCCGTGG;... | |
| XM_011531166.1:c.850_*568delinsCCGTGG | XP_011529468.1:n.[c.850_*568delinsCCGTGG;... | |
| XM_006724819.3:c.460_*568delinsCCGTGG | XP_006724882.1:n.[c.460_*568delinsCCGTGG;... | |
| XM_011531166.2:c.850_*568delinsCCGTGG | XP_011529468.1:n.[c.850_*568delinsCCGTGG;... | |
| XM_024452383.1:c.850_*568delinsCCGTGG | XP_024308151.1:n.[c.850_*568delinsCCGTGG;... | |
| XM_024452384.1:c.850_*568delinsCCGTGG | XP_024308152.1:n.[c.850_*568delinsCCGTGG;... | |
| NM_001110792.2:c.1165_*568delinsCCGTGG MANE Select | NP_001104262.1:n.[c.1165_*568delinsCCGTGG... | |
| NM_001316337.2:c.850_*568delinsCCGTGG | NP_001303266.1:n.[c.850_*568delinsCCGTGG;... | |
| NM_001369391.2:c.850_*568delinsCCGTGG | NP_001356320.1:n.[c.850_*568delinsCCGTGG;... | |
| NM_001369392.2:c.850_*568delinsCCGTGG | NP_001356321.1:n.[c.850_*568delinsCCGTGG;... | |
| NM_001369393.2:c.850_*568delinsCCGTGG | NP_001356322.1:n.[c.850_*568delinsCCGTGG;... | |
| NM_001369394.2:c.850_*568delinsCCGTGG | NP_001356323.1:n.[c.850_*568delinsCCGTGG;... | |
| NM_001386137.1:c.460_*568delinsCCGTGG | NP_001373066.1:n.[c.460_*568delinsCCGTGG;... | |
| NM_001386138.1:c.460_*568delinsCCGTGG | NP_001373067.1:n.[c.460_*568delinsCCGTGG;... | |
| NM_001386139.1:c.460_*568delinsCCGTGG | NP_001373068.1:n.[c.460_*568delinsCCGTGG;... | |
| NM_004992.4:c.1129_*568delinsCCGTGG MANE Plus Clinical | NP_004983.1:n.[c.1129_*568delinsCCGTGG;Ly... |