Linked Data
ClinVar Variation Id:
1488073
ClinVar RCV Id:
RCV002009051
dbSNP Id:
rs1236948038
gnomAD v2:
8-100887712-ACAT-A
gnomAD v3:
8-99875484-ACAT-A
gnomAD v4:
8-99875484-ACAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875486_99875488del , CM000670.2:g.99875486_99875488del | GRCh38 |
| NC_000008.10:g.100887714_100887716del , CM000670.1:g.100887714_100887716del | GRCh37 |
| NC_000008.9:g.100956890_100956892del | NCBI36 |
| NG_007098.2:g.867221_867223del , LRG_351:g.867221_867223del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1543_*1545del (VPS13B) | ENSP00000507923.1:n.*1543_*1545del | |
| ENST00000682358.1:n.12519_12521del (VPS13B) | ||
| ENST00000683334.1:c.*7571_*7573del (VPS13B) | ENSP00000507369.1:n.*7571_*7573del | |
| ENST00000357162.7:c.11814_11816del (VPS13B) MANE Select | ENSP00000349685.2:p.Ser3939del | |
| ENST00000358544.7:c.11889_11891del (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Ser3964del | |
| ENST00000357162.6:c.11814_11816del (VPS13B) | ENSP00000349685.2:p.Ser3939del | |
| ENST00000358544.6:c.11889_11891del (VPS13B) | ENSP00000351346.2:p.Ser3964del | |
| ENST00000493587.1:n.1391_1393del (VPS13B) | ||
| ENST00000520517.5:c.*142-395_*142-393del (COX6C) | ENSP00000429991.1:n.*142-395_*142-393del | |
| ENST00000522934.5:c.*142-2194_*142-2192del (COX6C) | ENSP00000428702.1:n.*142-2194_*142-2192del | |
| NM_017890.4:c.11889_11891del , LRG_351t1:c.11889_11891del (VPS13B) | NP_060360.3:p.Ser3964del | |
| NM_152564.4:c.11814_11816del , LRG_351t2:c.11814_11816del (VPS13B) | NP_689777.3:p.Ser3939del | |
| XM_005250800.2:c.11889_11891del (VPS13B) | XP_005250857.1:p.Ser3964del | |
| XM_005250801.3:c.11889_11891del (VPS13B) | XP_005250858.1:p.Ser3964del | |
| XM_011516848.1:c.11886_11888del (VPS13B) | XP_011515150.1:p.Ser3963del | |
| XM_011516849.1:c.11811_11813del (VPS13B) | XP_011515151.1:p.Ser3938del | |
| XM_011516850.1:c.11511_11513del (VPS13B) | XP_011515152.1:p.Ser3838del | |
| XM_011516851.1:c.8775_8777del (VPS13B) | XP_011515153.1:p.Ser2926del | |
| XM_011516852.1:c.8775_8777del (VPS13B) | XP_011515154.1:p.Ser2926del | |
| XM_011516854.1:c.7668_7670del (VPS13B) | XP_011515156.1:p.Ser2557del | |
| XM_005250800.3:c.11889_11891del (VPS13B) | XP_005250857.1:p.Ser3964del | |
| XM_005250801.5:c.11889_11891del (VPS13B) | XP_005250858.1:p.Ser3964del | |
| XM_011516848.2:c.11886_11888del (VPS13B) | XP_011515150.1:p.Ser3963del | |
| XM_011516849.2:c.11811_11813del (VPS13B) | XP_011515151.1:p.Ser3938del | |
| XM_011516850.2:c.11511_11513del (VPS13B) | XP_011515152.1:p.Ser3838del | |
| XM_011516851.2:c.8775_8777del (VPS13B) | XP_011515153.1:p.Ser2926del | |
| XM_011516852.2:c.8775_8777del (VPS13B) | XP_011515154.1:p.Ser2926del | |
| XM_011516854.2:c.7668_7670del (VPS13B) | XP_011515156.1:p.Ser2557del | |
| XM_017013109.1:c.11694_11696del (VPS13B) | XP_016868598.1:p.Ser3899del | |
| XM_017013111.1:c.8775_8777del (VPS13B) | XP_016868600.1:p.Ser2926del | |
| XM_017013112.1:c.7446_7448del (VPS13B) | XP_016868601.1:p.Ser2483del | |
| XM_024447074.1:c.10674_10676del (VPS13B) | XP_024302842.1:p.Ser3559del | |
| NM_017890.5:c.11889_11891del (VPS13B) MANE Plus Clinical | NP_060360.3:p.Ser3964del | |
| NM_152564.5:c.11814_11816del (VPS13B) MANE Select | NP_689777.3:p.Ser3939del |