Linked Data
ClinVar Variation Id:
2046750
ClinVar RCV Id:
RCV002913850
dbSNP Id:
rs769983613
ExAC:
8:100887863 AAAAT / A
gnomAD v2:
8-100887863-AAAAT-A
gnomAD v3:
8-99875635-AAAAT-A
gnomAD v4:
8-99875635-AAAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875639_99875642del , CM000670.2:g.99875639_99875642del | GRCh38 |
| NC_000008.10:g.100887867_100887870del , CM000670.1:g.100887867_100887870del | GRCh37 |
| NC_000008.9:g.100957043_100957046del | NCBI36 |
| NG_007098.2:g.867374_867377del , LRG_351:g.867374_867377del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1696_*1699del (VPS13B) | ENSP00000507923.1:n.*1696_*1699del | |
| ENST00000682358.1:n.12672_12675del (VPS13B) | ||
| ENST00000683334.1:c.*7724_*7727del (VPS13B) | ENSP00000507369.1:n.*7724_*7727del | |
| ENST00000357162.7:c.11967_11970del (VPS13B) MANE Select | ENSP00000349685.2:p.Asn3989LysfsTer3 | |
| ENST00000358544.7:c.12042_12045del (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Asn4014LysfsTer3 | |
| ENST00000357162.6:c.11967_11970del (VPS13B) | ENSP00000349685.2:p.Asn3989LysfsTer3 | |
| ENST00000358544.6:c.12042_12045del (VPS13B) | ENSP00000351346.2:p.Asn4014LysfsTer3 | |
| ENST00000493587.1:n.1544_1547del (VPS13B) | ||
| ENST00000520517.5:c.*142-547_*142-544del (COX6C) | ENSP00000429991.1:n.*142-547_*142-544del | |
| ENST00000522934.5:c.*142-2346_*142-2343del (COX6C) | ENSP00000428702.1:n.*142-2346_*142-2343del | |
| NM_017890.4:c.12042_12045del , LRG_351t1:c.12042_12045del (VPS13B) | NP_060360.3:p.Asn4014LysfsTer3 | |
| NM_152564.4:c.11967_11970del , LRG_351t2:c.11967_11970del (VPS13B) | NP_689777.3:p.Asn3989LysfsTer3 | |
| XM_005250800.2:c.12042_12045del (VPS13B) | XP_005250857.1:p.Asn4014LysfsTer3 | |
| XM_005250801.3:c.12042_12045del (VPS13B) | XP_005250858.1:p.Asn4014LysfsTer3 | |
| XM_011516848.1:c.12039_12042del (VPS13B) | XP_011515150.1:p.Asn4013LysfsTer3 | |
| XM_011516849.1:c.11964_11967del (VPS13B) | XP_011515151.1:p.Asn3988LysfsTer3 | |
| XM_011516850.1:c.11664_11667del (VPS13B) | XP_011515152.1:p.Asn3888LysfsTer3 | |
| XM_011516851.1:c.8928_8931del (VPS13B) | XP_011515153.1:p.Asn2976LysfsTer3 | |
| XM_011516852.1:c.8928_8931del (VPS13B) | XP_011515154.1:p.Asn2976LysfsTer3 | |
| XM_011516854.1:c.7821_7824del (VPS13B) | XP_011515156.1:p.Asn2607LysfsTer3 | |
| XM_005250800.3:c.12042_12045del (VPS13B) | XP_005250857.1:p.Asn4014LysfsTer3 | |
| XM_005250801.5:c.12042_12045del (VPS13B) | XP_005250858.1:p.Asn4014LysfsTer3 | |
| XM_011516848.2:c.12039_12042del (VPS13B) | XP_011515150.1:p.Asn4013LysfsTer3 | |
| XM_011516849.2:c.11964_11967del (VPS13B) | XP_011515151.1:p.Asn3988LysfsTer3 | |
| XM_011516850.2:c.11664_11667del (VPS13B) | XP_011515152.1:p.Asn3888LysfsTer3 | |
| XM_011516851.2:c.8928_8931del (VPS13B) | XP_011515153.1:p.Asn2976LysfsTer3 | |
| XM_011516852.2:c.8928_8931del (VPS13B) | XP_011515154.1:p.Asn2976LysfsTer3 | |
| XM_011516854.2:c.7821_7824del (VPS13B) | XP_011515156.1:p.Asn2607LysfsTer3 | |
| XM_017013109.1:c.11847_11850del (VPS13B) | XP_016868598.1:p.Asn3949LysfsTer3 | |
| XM_017013111.1:c.8928_8931del (VPS13B) | XP_016868600.1:p.Asn2976LysfsTer3 | |
| XM_017013112.1:c.7599_7602del (VPS13B) | XP_016868601.1:p.Asn2533LysfsTer3 | |
| XM_024447074.1:c.10827_10830del (VPS13B) | XP_024302842.1:p.Asn3609LysfsTer3 | |
| NM_017890.5:c.12042_12045del (VPS13B) MANE Plus Clinical | NP_060360.3:p.Asn4014LysfsTer3 | |
| NM_152564.5:c.11967_11970del (VPS13B) MANE Select | NP_689777.3:p.Asn3989LysfsTer3 |