Linked Data
ClinVar Variation Id:
188770
dbSNP Id:
rs786204456
MyVariant Identifiers:
chr8:g.100887731_100887741delinsG (hg19)
chr8:g.99875503_99875513delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875503_99875513delinsG , CM000670.2:g.99875503_99875513delinsG | GRCh38 |
| NC_000008.10:g.100887731_100887741delinsG , CM000670.1:g.100887731_100887741delinsG | GRCh37 |
| NC_000008.9:g.100956907_100956917delinsG | NCBI36 |
| NG_007098.2:g.867238_867248delinsG , LRG_351:g.867238_867248delinsG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1560_*1570delinsG (VPS13B) | ENSP00000507923.1:n.*1560_*1570delinsG | |
| ENST00000682358.1:n.12536_12546delinsG (VPS13B) | ||
| ENST00000683334.1:c.*7588_*7598delinsG (VPS13B) | ENSP00000507369.1:n.*7588_*7598delinsG | |
| ENST00000357162.7:c.11831_11841delinsG (VPS13B) MANE Select | ENSP00000349685.2:p.Pro3944ArgfsTer? | |
| ENST00000358544.7:c.11906_11916delinsG (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Pro3969ArgfsTer? | |
| ENST00000357162.6:c.11831_11841delinsG (VPS13B) | ENSP00000349685.2:p.Pro3944ArgfsTer? | |
| ENST00000358544.6:c.11906_11916delinsG (VPS13B) | ENSP00000351346.2:p.Pro3969ArgfsTer? | |
| ENST00000493587.1:n.1408_1418delinsG (VPS13B) | ||
| ENST00000520517.5:c.*142-421_*142-411delinsC (COX6C) | ENSP00000429991.1:n.*142-421_*142-411delinsC | |
| ENST00000522934.5:c.*142-2220_*142-2210delinsC (COX6C) | ENSP00000428702.1:n.*142-2220_*142-2210delinsC | |
| NM_017890.4:c.11906_11916delinsG , LRG_351t1:c.11906_11916delinsG (VPS13B) | NP_060360.3:p.Pro3969ArgfsTer? | |
| NM_152564.4:c.11831_11841delinsG , LRG_351t2:c.11831_11841delinsG (VPS13B) | NP_689777.3:p.Pro3944ArgfsTer? | |
| XM_005250800.2:c.11906_11916delinsG (VPS13B) | XP_005250857.1:p.Pro3969ArgfsTer? | |
| XM_005250801.3:c.11906_11916delinsG (VPS13B) | XP_005250858.1:p.Pro3969ArgfsTer? | |
| XM_011516848.1:c.11903_11913delinsG (VPS13B) | XP_011515150.1:p.Pro3968ArgfsTer? | |
| XM_011516849.1:c.11828_11838delinsG (VPS13B) | XP_011515151.1:p.Pro3943ArgfsTer? | |
| XM_011516850.1:c.11528_11538delinsG (VPS13B) | XP_011515152.1:p.Pro3843ArgfsTer? | |
| XM_011516851.1:c.8792_8802delinsG (VPS13B) | XP_011515153.1:p.Pro2931ArgfsTer? | |
| XM_011516852.1:c.8792_8802delinsG (VPS13B) | XP_011515154.1:p.Pro2931ArgfsTer? | |
| XM_011516854.1:c.7685_7695delinsG (VPS13B) | XP_011515156.1:p.Pro2562ArgfsTer? | |
| XM_005250800.3:c.11906_11916delinsG (VPS13B) | XP_005250857.1:p.Pro3969ArgfsTer? | |
| XM_005250801.5:c.11906_11916delinsG (VPS13B) | XP_005250858.1:p.Pro3969ArgfsTer? | |
| XM_011516848.2:c.11903_11913delinsG (VPS13B) | XP_011515150.1:p.Pro3968ArgfsTer? | |
| XM_011516849.2:c.11828_11838delinsG (VPS13B) | XP_011515151.1:p.Pro3943ArgfsTer? | |
| XM_011516850.2:c.11528_11538delinsG (VPS13B) | XP_011515152.1:p.Pro3843ArgfsTer? | |
| XM_011516851.2:c.8792_8802delinsG (VPS13B) | XP_011515153.1:p.Pro2931ArgfsTer? | |
| XM_011516852.2:c.8792_8802delinsG (VPS13B) | XP_011515154.1:p.Pro2931ArgfsTer? | |
| XM_011516854.2:c.7685_7695delinsG (VPS13B) | XP_011515156.1:p.Pro2562ArgfsTer? | |
| XM_017013109.1:c.11711_11721delinsG (VPS13B) | XP_016868598.1:p.Pro3904ArgfsTer? | |
| XM_017013111.1:c.8792_8802delinsG (VPS13B) | XP_016868600.1:p.Pro2931ArgfsTer? | |
| XM_017013112.1:c.7463_7473delinsG (VPS13B) | XP_016868601.1:p.Pro2488ArgfsTer? | |
| XM_024447074.1:c.10691_10701delinsG (VPS13B) | XP_024302842.1:p.Pro3564ArgfsTer? | |
| NM_017890.5:c.11906_11916delinsG (VPS13B) MANE Plus Clinical | NP_060360.3:p.Pro3969ArgfsTer? | |
| NM_152564.5:c.11831_11841delinsG (VPS13B) MANE Select | NP_689777.3:p.Pro3944ArgfsTer? |