Linked Data
ClinVar Variation Id:
1706622
ClinVar RCV Id:
RCV002285231
dbSNP Id:
rs1717980926
gnomAD v3:
5-35871142-CA-C
gnomAD v4:
5-35871142-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35871146del , CM000667.2:g.35871146del | GRCh38 |
| NC_000005.9:g.35871248del , CM000667.1:g.35871248del | GRCh37 |
| NC_000005.8:g.35907005del | NCBI36 |
| NG_009567.1:g.19258del , LRG_74:g.19258del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.470del MANE Select | ENSP00000306157.3:p.Lys157ArgfsTer4 | |
| ENST00000303115.7:c.470del | ENSP00000306157.3:p.Lys157ArgfsTer4 | |
| ENST00000506850.5:c.470del | ENSP00000421207.1:p.Lys157ArgfsTer4 | |
| ENST00000514217.5:c.470del | ENSP00000427688.1:p.Lys157ArgfsTer4 | |
| NM_002185.3:c.470del | NP_002176.2:p.Lys157ArgfsTer4 | |
| NR_120485.1:n.573del | ||
| XM_005248299.2:c.470del | XP_005248356.1:p.Lys157ArgfsTer4 | |
| XM_005248300.1:c.470del | XP_005248357.1:p.Lys157ArgfsTer4 | |
| XM_011514037.1:c.470del | XP_011512339.1:p.Lys157ArgfsTer4 | |
| NM_002185.4:c.470del | NP_002176.2:p.Lys157ArgfsTer4 | |
| NR_120485.2:n.599del | ||
| XM_005248299.4:c.470del | XP_005248356.1:p.Lys157ArgfsTer4 | |
| NM_002185.5:c.470del MANE Select | NP_002176.2:p.Lys157ArgfsTer4 | |
| NR_120485.3:n.557del |