Linked Data
ClinVar Variation Id:
553032
ClinVar RCV Id:
RCV000668402
dbSNP Id:
rs1554590369
gnomAD v4:
8-99875454-TACA-T
MyVariant Identifiers:
chr8:g.99875458_99875460del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875458_99875460del , CM000670.2:g.99875458_99875460del | GRCh38 |
| NC_000008.10:g.100887686_100887688del , CM000670.1:g.100887686_100887688del | GRCh37 |
| NC_000008.9:g.100956862_100956864del | NCBI36 |
| NG_007098.2:g.867193_867195del , LRG_351:g.867193_867195del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1515_*1517del (VPS13B) | ENSP00000507923.1:n.*1515_*1517del | |
| ENST00000682358.1:n.12491_12493del (VPS13B) | ||
| ENST00000683334.1:c.*7543_*7545del (VPS13B) | ENSP00000507369.1:n.*7543_*7545del | |
| ENST00000357162.7:c.11786_11788del (VPS13B) MANE Select | ENSP00000349685.2:p.Asn3929del | |
| ENST00000358544.7:c.11861_11863del (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Asn3954del | |
| ENST00000357162.6:c.11786_11788del (VPS13B) | ENSP00000349685.2:p.Asn3929del | |
| ENST00000358544.6:c.11861_11863del (VPS13B) | ENSP00000351346.2:p.Asn3954del | |
| ENST00000493587.1:n.1363_1365del (VPS13B) | ||
| ENST00000520517.5:c.*142-365_*142-363del (COX6C) | ENSP00000429991.1:n.*142-365_*142-363del | |
| ENST00000522934.5:c.*142-2164_*142-2162del (COX6C) | ENSP00000428702.1:n.*142-2164_*142-2162del | |
| NM_017890.4:c.11861_11863del , LRG_351t1:c.11861_11863del (VPS13B) | NP_060360.3:p.Asn3954del | |
| NM_152564.4:c.11786_11788del , LRG_351t2:c.11786_11788del (VPS13B) | NP_689777.3:p.Asn3929del | |
| XM_005250800.2:c.11861_11863del (VPS13B) | XP_005250857.1:p.Asn3954del | |
| XM_005250801.3:c.11861_11863del (VPS13B) | XP_005250858.1:p.Asn3954del | |
| XM_011516848.1:c.11858_11860del (VPS13B) | XP_011515150.1:p.Asn3953del | |
| XM_011516849.1:c.11783_11785del (VPS13B) | XP_011515151.1:p.Asn3928del | |
| XM_011516850.1:c.11483_11485del (VPS13B) | XP_011515152.1:p.Asn3828del | |
| XM_011516851.1:c.8747_8749del (VPS13B) | XP_011515153.1:p.Asn2916del | |
| XM_011516852.1:c.8747_8749del (VPS13B) | XP_011515154.1:p.Asn2916del | |
| XM_011516854.1:c.7640_7642del (VPS13B) | XP_011515156.1:p.Asn2547del | |
| XM_005250800.3:c.11861_11863del (VPS13B) | XP_005250857.1:p.Asn3954del | |
| XM_005250801.5:c.11861_11863del (VPS13B) | XP_005250858.1:p.Asn3954del | |
| XM_011516848.2:c.11858_11860del (VPS13B) | XP_011515150.1:p.Asn3953del | |
| XM_011516849.2:c.11783_11785del (VPS13B) | XP_011515151.1:p.Asn3928del | |
| XM_011516850.2:c.11483_11485del (VPS13B) | XP_011515152.1:p.Asn3828del | |
| XM_011516851.2:c.8747_8749del (VPS13B) | XP_011515153.1:p.Asn2916del | |
| XM_011516852.2:c.8747_8749del (VPS13B) | XP_011515154.1:p.Asn2916del | |
| XM_011516854.2:c.7640_7642del (VPS13B) | XP_011515156.1:p.Asn2547del | |
| XM_017013109.1:c.11666_11668del (VPS13B) | XP_016868598.1:p.Asn3889del | |
| XM_017013111.1:c.8747_8749del (VPS13B) | XP_016868600.1:p.Asn2916del | |
| XM_017013112.1:c.7418_7420del (VPS13B) | XP_016868601.1:p.Asn2473del | |
| XM_024447074.1:c.10646_10648del (VPS13B) | XP_024302842.1:p.Asn3549del | |
| NM_017890.5:c.11861_11863del (VPS13B) MANE Plus Clinical | NP_060360.3:p.Asn3954del | |
| NM_152564.5:c.11786_11788del (VPS13B) MANE Select | NP_689777.3:p.Asn3929del |