Linked Data
ClinVar Variation Id:
375562
ClinVar RCV Id:
RCV000417064
dbSNP Id:
rs1057519568
PubMed:
PMID:28041644
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107222769_107222775del , CM000685.2:g.107222769_107222775del | GRCh38 |
| NC_000023.10:g.106465999_106466005del , CM000685.1:g.106465999_106466005del | GRCh37 |
| NC_000023.9:g.106352655_106352661del | NCBI36 |
| NG_016377.1:g.21138_21144del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000535523.6:c.357_363del | ENSP00000441930.1:p.Val120LeufsTer6 | |
| ENST00000688816.1:c.332+3800_332+3806del | ENSP00000508655.1:n.332+3800_332+3806del | |
| ENST00000372453.8:c.357_363del MANE Select | ENSP00000361531.3:p.Val120LeufsTer6 | |
| ENST00000336387.4:c.357_363del | ENSP00000337757.4:p.Val120LeufsTer6 | |
| ENST00000372453.7:c.357_363del | ENSP00000361531.3:p.Val120LeufsTer6 | |
| ENST00000535523.5:c.357_363del | ENSP00000441930.1:p.Val120LeufsTer6 | |
| NM_001169154.1:c.357_363del | NP_001162625.1:p.Val120LeufsTer6 | |
| NM_173494.1:c.357_363del | NP_775765.1:p.Val120LeufsTer6 | |
| XM_011530855.1:c.357_363del | XP_011529157.1:p.Val120LeufsTer6 | |
| XM_011530855.2:c.357_363del | XP_011529157.1:p.Val120LeufsTer6 | |
| NM_173494.2:c.357_363del MANE Select | NP_775765.1:p.Val120LeufsTer6 | |
| NM_001169154.2:c.357_363del | NP_001162625.1:p.Val120LeufsTer6 |