Linked Data
ClinVar Variation Id:
56643
ClinVar RCV Id:
RCV000050056
dbSNP Id:
rs386834069
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875503_99875512del , CM000670.2:g.99875503_99875512del | GRCh38 |
| NC_000008.10:g.100887731_100887740del , CM000670.1:g.100887731_100887740del | GRCh37 |
| NC_000008.9:g.100956907_100956916del | NCBI36 |
| NG_007098.2:g.867238_867247del , LRG_351:g.867238_867247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1560_*1569del (VPS13B) | ENSP00000507923.1:n.*1560_*1569del | |
| ENST00000682358.1:n.12536_12545del (VPS13B) | ||
| ENST00000683334.1:c.*7588_*7597del (VPS13B) | ENSP00000507369.1:n.*7588_*7597del | |
| ENST00000357162.7:c.11831_11840del (VPS13B) MANE Select | ENSP00000349685.2:p.Pro3944LeufsTer? | |
| ENST00000358544.7:c.11906_11915del (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Pro3969LeufsTer? | |
| ENST00000357162.6:c.11831_11840del (VPS13B) | ENSP00000349685.2:p.Pro3944LeufsTer? | |
| ENST00000358544.6:c.11906_11915del (VPS13B) | ENSP00000351346.2:p.Pro3969LeufsTer? | |
| ENST00000493587.1:n.1408_1417del (VPS13B) | ||
| ENST00000520517.5:c.*142-419_*142-410del (COX6C) | ENSP00000429991.1:n.*142-419_*142-410del | |
| ENST00000522934.5:c.*142-2218_*142-2209del (COX6C) | ENSP00000428702.1:n.*142-2218_*142-2209del | |
| NM_017890.4:c.11906_11915del , LRG_351t1:c.11906_11915del (VPS13B) | NP_060360.3:p.Pro3969LeufsTer? | |
| NM_152564.4:c.11831_11840del , LRG_351t2:c.11831_11840del (VPS13B) | NP_689777.3:p.Pro3944LeufsTer? | |
| XM_005250800.2:c.11906_11915del (VPS13B) | XP_005250857.1:p.Pro3969LeufsTer? | |
| XM_005250801.3:c.11906_11915del (VPS13B) | XP_005250858.1:p.Pro3969LeufsTer? | |
| XM_011516848.1:c.11903_11912del (VPS13B) | XP_011515150.1:p.Pro3968LeufsTer? | |
| XM_011516849.1:c.11828_11837del (VPS13B) | XP_011515151.1:p.Pro3943LeufsTer? | |
| XM_011516850.1:c.11528_11537del (VPS13B) | XP_011515152.1:p.Pro3843LeufsTer? | |
| XM_011516851.1:c.8792_8801del (VPS13B) | XP_011515153.1:p.Pro2931LeufsTer? | |
| XM_011516852.1:c.8792_8801del (VPS13B) | XP_011515154.1:p.Pro2931LeufsTer? | |
| XM_011516854.1:c.7685_7694del (VPS13B) | XP_011515156.1:p.Pro2562LeufsTer? | |
| XM_005250800.3:c.11906_11915del (VPS13B) | XP_005250857.1:p.Pro3969LeufsTer? | |
| XM_005250801.5:c.11906_11915del (VPS13B) | XP_005250858.1:p.Pro3969LeufsTer? | |
| XM_011516848.2:c.11903_11912del (VPS13B) | XP_011515150.1:p.Pro3968LeufsTer? | |
| XM_011516849.2:c.11828_11837del (VPS13B) | XP_011515151.1:p.Pro3943LeufsTer? | |
| XM_011516850.2:c.11528_11537del (VPS13B) | XP_011515152.1:p.Pro3843LeufsTer? | |
| XM_011516851.2:c.8792_8801del (VPS13B) | XP_011515153.1:p.Pro2931LeufsTer? | |
| XM_011516852.2:c.8792_8801del (VPS13B) | XP_011515154.1:p.Pro2931LeufsTer? | |
| XM_011516854.2:c.7685_7694del (VPS13B) | XP_011515156.1:p.Pro2562LeufsTer? | |
| XM_017013109.1:c.11711_11720del (VPS13B) | XP_016868598.1:p.Pro3904LeufsTer? | |
| XM_017013111.1:c.8792_8801del (VPS13B) | XP_016868600.1:p.Pro2931LeufsTer? | |
| XM_017013112.1:c.7463_7472del (VPS13B) | XP_016868601.1:p.Pro2488LeufsTer? | |
| XM_024447074.1:c.10691_10700del (VPS13B) | XP_024302842.1:p.Pro3564LeufsTer? | |
| NM_017890.5:c.11906_11915del (VPS13B) MANE Plus Clinical | NP_060360.3:p.Pro3969LeufsTer? | |
| NM_152564.5:c.11831_11840del (VPS13B) MANE Select | NP_689777.3:p.Pro3944LeufsTer? |