Linked Data
dbSNP Id:
rs1434456777
gnomAD v2:
8-100887749-A-AAAT
gnomAD v4:
8-99875521-A-AAAT
MyVariant Identifiers:
chr8:g.100887749_100887750insAAT (hg19)
chr8:g.99875521_99875522insAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875523_99875525dup , CM000670.2:g.99875523_99875525dup | GRCh38 |
| NC_000008.10:g.100887751_100887753dup , CM000670.1:g.100887751_100887753dup | GRCh37 |
| NC_000008.9:g.100956927_100956929dup | NCBI36 |
| NG_007098.2:g.867258_867260dup , LRG_351:g.867258_867260dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1580_*1582dup (VPS13B) | ENSP00000507923.1:n.*1580_*1582dup | |
| ENST00000682358.1:n.12556_12558dup (VPS13B) | ||
| ENST00000683334.1:c.*7608_*7610dup (VPS13B) | ENSP00000507369.1:n.*7608_*7610dup | |
| ENST00000357162.7:c.11851_11853dup (VPS13B) MANE Select | ENSP00000349685.2:p.Ile3951_Pro3952insIle | |
| ENST00000358544.7:c.11926_11928dup (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Ile3976_Pro3977insIle | |
| ENST00000357162.6:c.11851_11853dup (VPS13B) | ENSP00000349685.2:p.Ile3951_Pro3952insIle | |
| ENST00000358544.6:c.11926_11928dup (VPS13B) | ENSP00000351346.2:p.Ile3976_Pro3977insIle | |
| ENST00000493587.1:n.1428_1430dup (VPS13B) | ||
| ENST00000520517.5:c.*142-432_*142-430dup (COX6C) | ENSP00000429991.1:n.*142-432_*142-430dup | |
| ENST00000522934.5:c.*142-2231_*142-2229dup (COX6C) | ENSP00000428702.1:n.*142-2231_*142-2229dup | |
| NM_017890.4:c.11926_11928dup , LRG_351t1:c.11926_11928dup (VPS13B) | NP_060360.3:p.Ile3976_Pro3977insIle | |
| NM_152564.4:c.11851_11853dup , LRG_351t2:c.11851_11853dup (VPS13B) | NP_689777.3:p.Ile3951_Pro3952insIle | |
| XM_005250800.2:c.11926_11928dup (VPS13B) | XP_005250857.1:p.Ile3976_Pro3977insIle | |
| XM_005250801.3:c.11926_11928dup (VPS13B) | XP_005250858.1:p.Ile3976_Pro3977insIle | |
| XM_011516848.1:c.11923_11925dup (VPS13B) | XP_011515150.1:p.Ile3975_Pro3976insIle | |
| XM_011516849.1:c.11848_11850dup (VPS13B) | XP_011515151.1:p.Ile3950_Pro3951insIle | |
| XM_011516850.1:c.11548_11550dup (VPS13B) | XP_011515152.1:p.Ile3850_Pro3851insIle | |
| XM_011516851.1:c.8812_8814dup (VPS13B) | XP_011515153.1:p.Ile2938_Pro2939insIle | |
| XM_011516852.1:c.8812_8814dup (VPS13B) | XP_011515154.1:p.Ile2938_Pro2939insIle | |
| XM_011516854.1:c.7705_7707dup (VPS13B) | XP_011515156.1:p.Ile2569_Pro2570insIle | |
| XM_005250800.3:c.11926_11928dup (VPS13B) | XP_005250857.1:p.Ile3976_Pro3977insIle | |
| XM_005250801.5:c.11926_11928dup (VPS13B) | XP_005250858.1:p.Ile3976_Pro3977insIle | |
| XM_011516848.2:c.11923_11925dup (VPS13B) | XP_011515150.1:p.Ile3975_Pro3976insIle | |
| XM_011516849.2:c.11848_11850dup (VPS13B) | XP_011515151.1:p.Ile3950_Pro3951insIle | |
| XM_011516850.2:c.11548_11550dup (VPS13B) | XP_011515152.1:p.Ile3850_Pro3851insIle | |
| XM_011516851.2:c.8812_8814dup (VPS13B) | XP_011515153.1:p.Ile2938_Pro2939insIle | |
| XM_011516852.2:c.8812_8814dup (VPS13B) | XP_011515154.1:p.Ile2938_Pro2939insIle | |
| XM_011516854.2:c.7705_7707dup (VPS13B) | XP_011515156.1:p.Ile2569_Pro2570insIle | |
| XM_017013109.1:c.11731_11733dup (VPS13B) | XP_016868598.1:p.Ile3911_Pro3912insIle | |
| XM_017013111.1:c.8812_8814dup (VPS13B) | XP_016868600.1:p.Ile2938_Pro2939insIle | |
| XM_017013112.1:c.7483_7485dup (VPS13B) | XP_016868601.1:p.Ile2495_Pro2496insIle | |
| XM_024447074.1:c.10711_10713dup (VPS13B) | XP_024302842.1:p.Ile3571_Pro3572insIle | |
| NM_017890.5:c.11926_11928dup (VPS13B) MANE Plus Clinical | NP_060360.3:p.Ile3976_Pro3977insIle | |
| NM_152564.5:c.11851_11853dup (VPS13B) MANE Select | NP_689777.3:p.Ile3951_Pro3952insIle |