Linked Data
ClinVar Variation Id:
419487
ClinVar RCV Id:
RCV000482336
dbSNP Id:
rs1064793906
gnomAD v4:
15-48793456-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48793459_48793460del , CM000677.2:g.48793459_48793460del | GRCh38 |
| NC_000015.9:g.49085656_49085657del , CM000677.1:g.49085656_49085657del | GRCh37 |
| NC_000015.8:g.46872948_46872949del | NCBI36 |
| NG_027518.1:g.22689_22690del | |
| NG_027518.2:g.22689_22690del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380950.7:c.695_696del MANE Select | ENSP00000370337.2:p.Ser232CysfsTer13 | |
| ENST00000325747.9:c.416_417del | ENSP00000321000.5:p.Ser139CysfsTer13 | |
| ENST00000380950.6:c.695_696del | ENSP00000370337.2:p.Ser232CysfsTer13 | |
| ENST00000399334.7:c.695_696del | ENSP00000382271.3:p.Ser232CysfsTer13 | |
| ENST00000560322.5:c.695_696del | ENSP00000453440.1:p.Ser232CysfsTer13 | |
| NM_001194998.1:c.695_696del | NP_001181927.1:p.Ser232CysfsTer13 | |
| NM_014985.3:c.695_696del | NP_055800.2:p.Ser232CysfsTer13 | |
| XM_006720437.2:c.695_696del | XP_006720500.1:p.Ser232CysfsTer13 | |
| XM_011521373.1:c.695_696del | XP_011519675.1:p.Ser232CysfsTer13 | |
| XM_011521374.1:c.695_696del | XP_011519676.1:p.Ser232CysfsTer13 | |
| XM_011521375.1:c.695_696del | XP_011519677.1:p.Ser232CysfsTer13 | |
| XM_011521376.1:c.695_696del | XP_011519678.1:p.Ser232CysfsTer13 | |
| XM_011521377.1:c.695_696del | XP_011519679.1:p.Ser232CysfsTer13 | |
| XM_011521378.1:c.695_696del | XP_011519680.1:p.Ser232CysfsTer13 | |
| XM_011521379.1:c.695_696del | XP_011519681.1:p.Ser232CysfsTer13 | |
| XR_931769.1:n.1660_1661del | ||
| XR_931770.1:n.1660_1661del | ||
| XR_931771.1:n.1660_1661del | ||
| XR_931772.1:n.1660_1661del | ||
| XR_931773.1:n.1660_1661del | ||
| XR_931774.1:n.1660_1661del | ||
| XR_931775.1:n.1660_1661del | ||
| XM_006720437.3:c.695_696del | XP_006720500.1:p.Ser232CysfsTer13 | |
| XM_011521373.3:c.695_696del | XP_011519675.1:p.Ser232CysfsTer13 | |
| XM_011521374.3:c.695_696del | XP_011519676.1:p.Ser232CysfsTer13 | |
| XM_011521375.3:c.695_696del | XP_011519677.1:p.Ser232CysfsTer13 | |
| XM_011521378.3:c.695_696del | XP_011519680.1:p.Ser232CysfsTer13 | |
| XM_011521379.3:c.695_696del | XP_011519681.1:p.Ser232CysfsTer13 | |
| XM_017022016.2:c.695_696del | XP_016877505.1:p.Ser232CysfsTer13 | |
| XM_024449875.1:c.695_696del | XP_024305643.1:p.Ser232CysfsTer13 | |
| XR_001751153.2:n.1646_1647del | ||
| XR_931769.3:n.1646_1647del | ||
| XR_931770.3:n.1646_1647del | ||
| XR_931775.3:n.1646_1647del | ||
| NM_001194998.2:c.695_696del MANE Select | NP_001181927.1:p.Ser232CysfsTer13 | |
| NM_014985.4:c.695_696del | NP_055800.2:p.Ser232CysfsTer13 |