Linked Data
dbSNP Id:
rs746116478
ExAC:
8:100887803 ACCATT / A
gnomAD v2:
8-100887803-ACCATT-A
gnomAD v4:
8-99875575-ACCATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875576_99875580del , CM000670.2:g.99875576_99875580del | GRCh38 |
| NC_000008.10:g.100887804_100887808del , CM000670.1:g.100887804_100887808del | GRCh37 |
| NC_000008.9:g.100956980_100956984del | NCBI36 |
| NG_007098.2:g.867311_867315del , LRG_351:g.867311_867315del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1633_*1637del (VPS13B) | ENSP00000507923.1:n.*1633_*1637del | |
| ENST00000682358.1:n.12609_12613del (VPS13B) | ||
| ENST00000683334.1:c.*7661_*7665del (VPS13B) | ENSP00000507369.1:n.*7661_*7665del | |
| ENST00000357162.7:c.11904_11908del (VPS13B) MANE Select | ENSP00000349685.2:p.Tyr3968Ter | |
| ENST00000358544.7:c.11979_11983del (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Tyr3993Ter | |
| ENST00000357162.6:c.11904_11908del (VPS13B) | ENSP00000349685.2:p.Tyr3968Ter | |
| ENST00000358544.6:c.11979_11983del (VPS13B) | ENSP00000351346.2:p.Tyr3993Ter | |
| ENST00000493587.1:n.1481_1485del (VPS13B) | ||
| ENST00000520517.5:c.*142-488_*142-484del (COX6C) | ENSP00000429991.1:n.*142-488_*142-484del | |
| ENST00000522934.5:c.*142-2287_*142-2283del (COX6C) | ENSP00000428702.1:n.*142-2287_*142-2283del | |
| NM_017890.4:c.11979_11983del , LRG_351t1:c.11979_11983del (VPS13B) | NP_060360.3:p.Tyr3993Ter | |
| NM_152564.4:c.11904_11908del , LRG_351t2:c.11904_11908del (VPS13B) | NP_689777.3:p.Tyr3968Ter | |
| XM_005250800.2:c.11979_11983del (VPS13B) | XP_005250857.1:p.Tyr3993Ter | |
| XM_005250801.3:c.11979_11983del (VPS13B) | XP_005250858.1:p.Tyr3993Ter | |
| XM_011516848.1:c.11976_11980del (VPS13B) | XP_011515150.1:p.Tyr3992Ter | |
| XM_011516849.1:c.11901_11905del (VPS13B) | XP_011515151.1:p.Tyr3967Ter | |
| XM_011516850.1:c.11601_11605del (VPS13B) | XP_011515152.1:p.Tyr3867Ter | |
| XM_011516851.1:c.8865_8869del (VPS13B) | XP_011515153.1:p.Tyr2955Ter | |
| XM_011516852.1:c.8865_8869del (VPS13B) | XP_011515154.1:p.Tyr2955Ter | |
| XM_011516854.1:c.7758_7762del (VPS13B) | XP_011515156.1:p.Tyr2586Ter | |
| XM_005250800.3:c.11979_11983del (VPS13B) | XP_005250857.1:p.Tyr3993Ter | |
| XM_005250801.5:c.11979_11983del (VPS13B) | XP_005250858.1:p.Tyr3993Ter | |
| XM_011516848.2:c.11976_11980del (VPS13B) | XP_011515150.1:p.Tyr3992Ter | |
| XM_011516849.2:c.11901_11905del (VPS13B) | XP_011515151.1:p.Tyr3967Ter | |
| XM_011516850.2:c.11601_11605del (VPS13B) | XP_011515152.1:p.Tyr3867Ter | |
| XM_011516851.2:c.8865_8869del (VPS13B) | XP_011515153.1:p.Tyr2955Ter | |
| XM_011516852.2:c.8865_8869del (VPS13B) | XP_011515154.1:p.Tyr2955Ter | |
| XM_011516854.2:c.7758_7762del (VPS13B) | XP_011515156.1:p.Tyr2586Ter | |
| XM_017013109.1:c.11784_11788del (VPS13B) | XP_016868598.1:p.Tyr3928Ter | |
| XM_017013111.1:c.8865_8869del (VPS13B) | XP_016868600.1:p.Tyr2955Ter | |
| XM_017013112.1:c.7536_7540del (VPS13B) | XP_016868601.1:p.Tyr2512Ter | |
| XM_024447074.1:c.10764_10768del (VPS13B) | XP_024302842.1:p.Tyr3588Ter | |
| NM_017890.5:c.11979_11983del (VPS13B) MANE Plus Clinical | NP_060360.3:p.Tyr3993Ter | |
| NM_152564.5:c.11904_11908del (VPS13B) MANE Select | NP_689777.3:p.Tyr3968Ter |