Linked Data
ClinVar Variation Id:
1400298
ClinVar RCV Id:
RCV001918125
dbSNP Id:
rs1371736348
gnomAD v4:
8-99875479-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875482del , CM000670.2:g.99875482del | GRCh38 |
| NC_000008.10:g.100887710del , CM000670.1:g.100887710del | GRCh37 |
| NC_000008.9:g.100956886del | NCBI36 |
| NG_007098.2:g.867217del , LRG_351:g.867217del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1539del (VPS13B) | ENSP00000507923.1:n.*1539del | |
| ENST00000682358.1:n.12515del (VPS13B) | ||
| ENST00000683334.1:c.*7567del (VPS13B) | ENSP00000507369.1:n.*7567del | |
| ENST00000357162.7:c.11810del (VPS13B) MANE Select | ENSP00000349685.2:p.Lys3937ArgfsTer? | |
| ENST00000358544.7:c.11885del (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Lys3962ArgfsTer? | |
| ENST00000357162.6:c.11810del (VPS13B) | ENSP00000349685.2:p.Lys3937ArgfsTer? | |
| ENST00000358544.6:c.11885del (VPS13B) | ENSP00000351346.2:p.Lys3962ArgfsTer? | |
| ENST00000493587.1:n.1387del (VPS13B) | ||
| ENST00000520517.5:c.*142-388del (COX6C) | ENSP00000429991.1:n.*142-388del | |
| ENST00000522934.5:c.*142-2187del (COX6C) | ENSP00000428702.1:n.*142-2187del | |
| NM_017890.4:c.11885del , LRG_351t1:c.11885del (VPS13B) | NP_060360.3:p.Lys3962ArgfsTer? | |
| NM_152564.4:c.11810del , LRG_351t2:c.11810del (VPS13B) | NP_689777.3:p.Lys3937ArgfsTer? | |
| XM_005250800.2:c.11885del (VPS13B) | XP_005250857.1:p.Lys3962ArgfsTer? | |
| XM_005250801.3:c.11885del (VPS13B) | XP_005250858.1:p.Lys3962ArgfsTer? | |
| XM_011516848.1:c.11882del (VPS13B) | XP_011515150.1:p.Lys3961ArgfsTer? | |
| XM_011516849.1:c.11807del (VPS13B) | XP_011515151.1:p.Lys3936ArgfsTer? | |
| XM_011516850.1:c.11507del (VPS13B) | XP_011515152.1:p.Lys3836ArgfsTer? | |
| XM_011516851.1:c.8771del (VPS13B) | XP_011515153.1:p.Lys2924ArgfsTer? | |
| XM_011516852.1:c.8771del (VPS13B) | XP_011515154.1:p.Lys2924ArgfsTer? | |
| XM_011516854.1:c.7664del (VPS13B) | XP_011515156.1:p.Lys2555ArgfsTer? | |
| XM_005250800.3:c.11885del (VPS13B) | XP_005250857.1:p.Lys3962ArgfsTer? | |
| XM_005250801.5:c.11885del (VPS13B) | XP_005250858.1:p.Lys3962ArgfsTer? | |
| XM_011516848.2:c.11882del (VPS13B) | XP_011515150.1:p.Lys3961ArgfsTer? | |
| XM_011516849.2:c.11807del (VPS13B) | XP_011515151.1:p.Lys3936ArgfsTer? | |
| XM_011516850.2:c.11507del (VPS13B) | XP_011515152.1:p.Lys3836ArgfsTer? | |
| XM_011516851.2:c.8771del (VPS13B) | XP_011515153.1:p.Lys2924ArgfsTer? | |
| XM_011516852.2:c.8771del (VPS13B) | XP_011515154.1:p.Lys2924ArgfsTer? | |
| XM_011516854.2:c.7664del (VPS13B) | XP_011515156.1:p.Lys2555ArgfsTer? | |
| XM_017013109.1:c.11690del (VPS13B) | XP_016868598.1:p.Lys3897ArgfsTer? | |
| XM_017013111.1:c.8771del (VPS13B) | XP_016868600.1:p.Lys2924ArgfsTer? | |
| XM_017013112.1:c.7442del (VPS13B) | XP_016868601.1:p.Lys2481ArgfsTer? | |
| XM_024447074.1:c.10670del (VPS13B) | XP_024302842.1:p.Lys3557ArgfsTer? | |
| NM_017890.5:c.11885del (VPS13B) MANE Plus Clinical | NP_060360.3:p.Lys3962ArgfsTer? | |
| NM_152564.5:c.11810del (VPS13B) MANE Select | NP_689777.3:p.Lys3937ArgfsTer? |