Linked Data
ClinVar Variation Id:
2147740
ClinVar RCV Id:
RCV003068500
dbSNP Id:
rs1817660485
gnomAD v4:
8-99875552-T-TC
MyVariant Identifiers:
chr8:g.100887781_100887782insC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875558dup , CM000670.2:g.99875558dup | GRCh38 |
| NC_000008.10:g.100887786dup , CM000670.1:g.100887786dup | GRCh37 |
| NC_000008.9:g.100956962dup | NCBI36 |
| NG_007098.2:g.867293dup , LRG_351:g.867293dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1615dup (VPS13B) | ENSP00000507923.1:n.*1615dup | |
| ENST00000682358.1:n.12591dup (VPS13B) | ||
| ENST00000683334.1:c.*7643dup (VPS13B) | ENSP00000507369.1:n.*7643dup | |
| ENST00000357162.7:c.11886dup (VPS13B) MANE Select | ENSP00000349685.2:p.Ser3963LeufsTer4 | |
| ENST00000358544.7:c.11961dup (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Ser3988LeufsTer4 | |
| ENST00000357162.6:c.11886dup (VPS13B) | ENSP00000349685.2:p.Ser3963LeufsTer4 | |
| ENST00000358544.6:c.11961dup (VPS13B) | ENSP00000351346.2:p.Ser3988LeufsTer4 | |
| ENST00000493587.1:n.1463dup (VPS13B) | ||
| ENST00000520517.5:c.*142-461dup (COX6C) | ENSP00000429991.1:n.*142-461dup | |
| ENST00000522934.5:c.*142-2260dup (COX6C) | ENSP00000428702.1:n.*142-2260dup | |
| NM_017890.4:c.11961dup , LRG_351t1:c.11961dup (VPS13B) | NP_060360.3:p.Ser3988LeufsTer4 | |
| NM_152564.4:c.11886dup , LRG_351t2:c.11886dup (VPS13B) | NP_689777.3:p.Ser3963LeufsTer4 | |
| XM_005250800.2:c.11961dup (VPS13B) | XP_005250857.1:p.Ser3988LeufsTer4 | |
| XM_005250801.3:c.11961dup (VPS13B) | XP_005250858.1:p.Ser3988LeufsTer4 | |
| XM_011516848.1:c.11958dup (VPS13B) | XP_011515150.1:p.Ser3987LeufsTer4 | |
| XM_011516849.1:c.11883dup (VPS13B) | XP_011515151.1:p.Ser3962LeufsTer4 | |
| XM_011516850.1:c.11583dup (VPS13B) | XP_011515152.1:p.Ser3862LeufsTer4 | |
| XM_011516851.1:c.8847dup (VPS13B) | XP_011515153.1:p.Ser2950LeufsTer4 | |
| XM_011516852.1:c.8847dup (VPS13B) | XP_011515154.1:p.Ser2950LeufsTer4 | |
| XM_011516854.1:c.7740dup (VPS13B) | XP_011515156.1:p.Ser2581LeufsTer4 | |
| XM_005250800.3:c.11961dup (VPS13B) | XP_005250857.1:p.Ser3988LeufsTer4 | |
| XM_005250801.5:c.11961dup (VPS13B) | XP_005250858.1:p.Ser3988LeufsTer4 | |
| XM_011516848.2:c.11958dup (VPS13B) | XP_011515150.1:p.Ser3987LeufsTer4 | |
| XM_011516849.2:c.11883dup (VPS13B) | XP_011515151.1:p.Ser3962LeufsTer4 | |
| XM_011516850.2:c.11583dup (VPS13B) | XP_011515152.1:p.Ser3862LeufsTer4 | |
| XM_011516851.2:c.8847dup (VPS13B) | XP_011515153.1:p.Ser2950LeufsTer4 | |
| XM_011516852.2:c.8847dup (VPS13B) | XP_011515154.1:p.Ser2950LeufsTer4 | |
| XM_011516854.2:c.7740dup (VPS13B) | XP_011515156.1:p.Ser2581LeufsTer4 | |
| XM_017013109.1:c.11766dup (VPS13B) | XP_016868598.1:p.Ser3923LeufsTer4 | |
| XM_017013111.1:c.8847dup (VPS13B) | XP_016868600.1:p.Ser2950LeufsTer4 | |
| XM_017013112.1:c.7518dup (VPS13B) | XP_016868601.1:p.Ser2507LeufsTer4 | |
| XM_024447074.1:c.10746dup (VPS13B) | XP_024302842.1:p.Ser3583LeufsTer4 | |
| NM_017890.5:c.11961dup (VPS13B) MANE Plus Clinical | NP_060360.3:p.Ser3988LeufsTer4 | |
| NM_152564.5:c.11886dup (VPS13B) MANE Select | NP_689777.3:p.Ser3963LeufsTer4 |