Linked Data
ClinVar Variation Id:
56644
dbSNP Id:
rs180177374
ExAC:
8:100887727 G / GC
gnomAD v2:
8-100887727-G-GC
gnomAD v3:
8-99875499-G-GC
gnomAD v4:
8-99875499-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875504dup , CM000670.2:g.99875504dup | GRCh38 |
| NC_000008.10:g.100887732dup , CM000670.1:g.100887732dup | GRCh37 |
| NC_000008.9:g.100956908dup | NCBI36 |
| NG_007098.2:g.867239dup , LRG_351:g.867239dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.*1561dup (VPS13B) | ENSP00000507923.1:n.*1561dup | |
| ENST00000682358.1:n.12537dup (VPS13B) | ||
| ENST00000683334.1:c.*7589dup (VPS13B) | ENSP00000507369.1:n.*7589dup | |
| ENST00000357162.7:c.11832dup (VPS13B) MANE Select | ENSP00000349685.2:p.Ser3945GlnfsTer22 | |
| ENST00000358544.7:c.11907dup (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Ser3970GlnfsTer22 | |
| ENST00000357162.6:c.11832dup (VPS13B) | ENSP00000349685.2:p.Ser3945GlnfsTer22 | |
| ENST00000358544.6:c.11907dup (VPS13B) | ENSP00000351346.2:p.Ser3970GlnfsTer22 | |
| ENST00000493587.1:n.1409dup (VPS13B) | ||
| ENST00000520517.5:c.*142-408dup (COX6C) | ENSP00000429991.1:n.*142-408dup | |
| ENST00000522934.5:c.*142-2207dup (COX6C) | ENSP00000428702.1:n.*142-2207dup | |
| NM_017890.4:c.11907dup , LRG_351t1:c.11907dup (VPS13B) | NP_060360.3:p.Ser3970GlnfsTer22 | |
| NM_152564.4:c.11832dup , LRG_351t2:c.11832dup (VPS13B) | NP_689777.3:p.Ser3945GlnfsTer22 | |
| XM_005250800.2:c.11907dup (VPS13B) | XP_005250857.1:p.Ser3970GlnfsTer22 | |
| XM_005250801.3:c.11907dup (VPS13B) | XP_005250858.1:p.Ser3970GlnfsTer22 | |
| XM_011516848.1:c.11904dup (VPS13B) | XP_011515150.1:p.Ser3969GlnfsTer22 | |
| XM_011516849.1:c.11829dup (VPS13B) | XP_011515151.1:p.Ser3944GlnfsTer22 | |
| XM_011516850.1:c.11529dup (VPS13B) | XP_011515152.1:p.Ser3844GlnfsTer22 | |
| XM_011516851.1:c.8793dup (VPS13B) | XP_011515153.1:p.Ser2932GlnfsTer22 | |
| XM_011516852.1:c.8793dup (VPS13B) | XP_011515154.1:p.Ser2932GlnfsTer22 | |
| XM_011516854.1:c.7686dup (VPS13B) | XP_011515156.1:p.Ser2563GlnfsTer22 | |
| XM_005250800.3:c.11907dup (VPS13B) | XP_005250857.1:p.Ser3970GlnfsTer22 | |
| XM_005250801.5:c.11907dup (VPS13B) | XP_005250858.1:p.Ser3970GlnfsTer22 | |
| XM_011516848.2:c.11904dup (VPS13B) | XP_011515150.1:p.Ser3969GlnfsTer22 | |
| XM_011516849.2:c.11829dup (VPS13B) | XP_011515151.1:p.Ser3944GlnfsTer22 | |
| XM_011516850.2:c.11529dup (VPS13B) | XP_011515152.1:p.Ser3844GlnfsTer22 | |
| XM_011516851.2:c.8793dup (VPS13B) | XP_011515153.1:p.Ser2932GlnfsTer22 | |
| XM_011516852.2:c.8793dup (VPS13B) | XP_011515154.1:p.Ser2932GlnfsTer22 | |
| XM_011516854.2:c.7686dup (VPS13B) | XP_011515156.1:p.Ser2563GlnfsTer22 | |
| XM_017013109.1:c.11712dup (VPS13B) | XP_016868598.1:p.Ser3905GlnfsTer22 | |
| XM_017013111.1:c.8793dup (VPS13B) | XP_016868600.1:p.Ser2932GlnfsTer22 | |
| XM_017013112.1:c.7464dup (VPS13B) | XP_016868601.1:p.Ser2489GlnfsTer22 | |
| XM_024447074.1:c.10692dup (VPS13B) | XP_024302842.1:p.Ser3565GlnfsTer22 | |
| NM_017890.5:c.11907dup (VPS13B) MANE Plus Clinical | NP_060360.3:p.Ser3970GlnfsTer22 | |
| NM_152564.5:c.11832dup (VPS13B) MANE Select | NP_689777.3:p.Ser3945GlnfsTer22 |