Linked Data
ClinVar Variation Id:
556977
ClinVar RCV Id:
RCV000673052
dbSNP Id:
rs1554590433
gnomAD v4:
8-99875520-C-CAAAT
MyVariant Identifiers:
chr8:g.99875522_99875525dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875522_99875525dup , CM000670.2:g.99875522_99875525dup | GRCh38 |
| NC_000008.10:g.100887750_100887753dup , CM000670.1:g.100887750_100887753dup | GRCh37 |
| NC_000008.9:g.100956926_100956929dup | NCBI36 |
| NG_007098.2:g.867257_867260dup , LRG_351:g.867257_867260dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1579_*1582dup (VPS13B) | ENSP00000507923.1:n.*1579_*1582dup | |
| ENST00000682358.1:n.12555_12558dup (VPS13B) | ||
| ENST00000683334.1:c.*7607_*7610dup (VPS13B) | ENSP00000507369.1:n.*7607_*7610dup | |
| ENST00000357162.7:c.11850_11853dup (VPS13B) MANE Select | ENSP00000349685.2:p.Pro3952AsnfsTer16 | |
| ENST00000358544.7:c.11925_11928dup (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Pro3977AsnfsTer16 | |
| ENST00000357162.6:c.11850_11853dup (VPS13B) | ENSP00000349685.2:p.Pro3952AsnfsTer16 | |
| ENST00000358544.6:c.11925_11928dup (VPS13B) | ENSP00000351346.2:p.Pro3977AsnfsTer16 | |
| ENST00000493587.1:n.1427_1430dup (VPS13B) | ||
| ENST00000520517.5:c.*142-432_*142-429dup (COX6C) | ENSP00000429991.1:n.*142-432_*142-429dup | |
| ENST00000522934.5:c.*142-2231_*142-2228dup (COX6C) | ENSP00000428702.1:n.*142-2231_*142-2228dup | |
| NM_017890.4:c.11925_11928dup , LRG_351t1:c.11925_11928dup (VPS13B) | NP_060360.3:p.Pro3977AsnfsTer16 | |
| NM_152564.4:c.11850_11853dup , LRG_351t2:c.11850_11853dup (VPS13B) | NP_689777.3:p.Pro3952AsnfsTer16 | |
| XM_005250800.2:c.11925_11928dup (VPS13B) | XP_005250857.1:p.Pro3977AsnfsTer16 | |
| XM_005250801.3:c.11925_11928dup (VPS13B) | XP_005250858.1:p.Pro3977AsnfsTer16 | |
| XM_011516848.1:c.11922_11925dup (VPS13B) | XP_011515150.1:p.Pro3976AsnfsTer16 | |
| XM_011516849.1:c.11847_11850dup (VPS13B) | XP_011515151.1:p.Pro3951AsnfsTer16 | |
| XM_011516850.1:c.11547_11550dup (VPS13B) | XP_011515152.1:p.Pro3851AsnfsTer16 | |
| XM_011516851.1:c.8811_8814dup (VPS13B) | XP_011515153.1:p.Pro2939AsnfsTer16 | |
| XM_011516852.1:c.8811_8814dup (VPS13B) | XP_011515154.1:p.Pro2939AsnfsTer16 | |
| XM_011516854.1:c.7704_7707dup (VPS13B) | XP_011515156.1:p.Pro2570AsnfsTer16 | |
| XM_005250800.3:c.11925_11928dup (VPS13B) | XP_005250857.1:p.Pro3977AsnfsTer16 | |
| XM_005250801.5:c.11925_11928dup (VPS13B) | XP_005250858.1:p.Pro3977AsnfsTer16 | |
| XM_011516848.2:c.11922_11925dup (VPS13B) | XP_011515150.1:p.Pro3976AsnfsTer16 | |
| XM_011516849.2:c.11847_11850dup (VPS13B) | XP_011515151.1:p.Pro3951AsnfsTer16 | |
| XM_011516850.2:c.11547_11550dup (VPS13B) | XP_011515152.1:p.Pro3851AsnfsTer16 | |
| XM_011516851.2:c.8811_8814dup (VPS13B) | XP_011515153.1:p.Pro2939AsnfsTer16 | |
| XM_011516852.2:c.8811_8814dup (VPS13B) | XP_011515154.1:p.Pro2939AsnfsTer16 | |
| XM_011516854.2:c.7704_7707dup (VPS13B) | XP_011515156.1:p.Pro2570AsnfsTer16 | |
| XM_017013109.1:c.11730_11733dup (VPS13B) | XP_016868598.1:p.Pro3912AsnfsTer16 | |
| XM_017013111.1:c.8811_8814dup (VPS13B) | XP_016868600.1:p.Pro2939AsnfsTer16 | |
| XM_017013112.1:c.7482_7485dup (VPS13B) | XP_016868601.1:p.Pro2496AsnfsTer16 | |
| XM_024447074.1:c.10710_10713dup (VPS13B) | XP_024302842.1:p.Pro3572AsnfsTer16 | |
| NM_017890.5:c.11925_11928dup (VPS13B) MANE Plus Clinical | NP_060360.3:p.Pro3977AsnfsTer16 | |
| NM_152564.5:c.11850_11853dup (VPS13B) MANE Select | NP_689777.3:p.Pro3952AsnfsTer16 |