Linked Data
ClinVar Variation Id:
1403469
ClinVar RCV Id:
RCV001909071
dbSNP Id:
rs1263684271
MyVariant Identifiers:
chr8:g.100887700_100887701insACATC (hg19)
chr8:g.99875472_99875473insACATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875476_99875480dup , CM000670.2:g.99875476_99875480dup | GRCh38 |
| NC_000008.10:g.100887704_100887708dup , CM000670.1:g.100887704_100887708dup | GRCh37 |
| NC_000008.9:g.100956880_100956884dup | NCBI36 |
| NG_007098.2:g.867211_867215dup , LRG_351:g.867211_867215dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1533_*1537dup (VPS13B) | ENSP00000507923.1:n.*1533_*1537dup | |
| ENST00000682358.1:n.12509_12513dup (VPS13B) | ||
| ENST00000683334.1:c.*7561_*7565dup (VPS13B) | ENSP00000507369.1:n.*7561_*7565dup | |
| ENST00000357162.7:c.11804_11808dup (VPS13B) MANE Select | ENSP00000349685.2:p.Lys3937SerfsTer? | |
| ENST00000358544.7:c.11879_11883dup (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Lys3962SerfsTer? | |
| ENST00000357162.6:c.11804_11808dup (VPS13B) | ENSP00000349685.2:p.Lys3937SerfsTer? | |
| ENST00000358544.6:c.11879_11883dup (VPS13B) | ENSP00000351346.2:p.Lys3962SerfsTer? | |
| ENST00000493587.1:n.1381_1385dup (VPS13B) | ||
| ENST00000520517.5:c.*142-385_*142-381dup (COX6C) | ENSP00000429991.1:n.*142-385_*142-381dup | |
| ENST00000522934.5:c.*142-2184_*142-2180dup (COX6C) | ENSP00000428702.1:n.*142-2184_*142-2180dup | |
| NM_017890.4:c.11879_11883dup , LRG_351t1:c.11879_11883dup (VPS13B) | NP_060360.3:p.Lys3962SerfsTer? | |
| NM_152564.4:c.11804_11808dup , LRG_351t2:c.11804_11808dup (VPS13B) | NP_689777.3:p.Lys3937SerfsTer? | |
| XM_005250800.2:c.11879_11883dup (VPS13B) | XP_005250857.1:p.Lys3962SerfsTer? | |
| XM_005250801.3:c.11879_11883dup (VPS13B) | XP_005250858.1:p.Lys3962SerfsTer? | |
| XM_011516848.1:c.11876_11880dup (VPS13B) | XP_011515150.1:p.Lys3961SerfsTer? | |
| XM_011516849.1:c.11801_11805dup (VPS13B) | XP_011515151.1:p.Lys3936SerfsTer? | |
| XM_011516850.1:c.11501_11505dup (VPS13B) | XP_011515152.1:p.Lys3836SerfsTer? | |
| XM_011516851.1:c.8765_8769dup (VPS13B) | XP_011515153.1:p.Lys2924SerfsTer? | |
| XM_011516852.1:c.8765_8769dup (VPS13B) | XP_011515154.1:p.Lys2924SerfsTer? | |
| XM_011516854.1:c.7658_7662dup (VPS13B) | XP_011515156.1:p.Lys2555SerfsTer? | |
| XM_005250800.3:c.11879_11883dup (VPS13B) | XP_005250857.1:p.Lys3962SerfsTer? | |
| XM_005250801.5:c.11879_11883dup (VPS13B) | XP_005250858.1:p.Lys3962SerfsTer? | |
| XM_011516848.2:c.11876_11880dup (VPS13B) | XP_011515150.1:p.Lys3961SerfsTer? | |
| XM_011516849.2:c.11801_11805dup (VPS13B) | XP_011515151.1:p.Lys3936SerfsTer? | |
| XM_011516850.2:c.11501_11505dup (VPS13B) | XP_011515152.1:p.Lys3836SerfsTer? | |
| XM_011516851.2:c.8765_8769dup (VPS13B) | XP_011515153.1:p.Lys2924SerfsTer? | |
| XM_011516852.2:c.8765_8769dup (VPS13B) | XP_011515154.1:p.Lys2924SerfsTer? | |
| XM_011516854.2:c.7658_7662dup (VPS13B) | XP_011515156.1:p.Lys2555SerfsTer? | |
| XM_017013109.1:c.11684_11688dup (VPS13B) | XP_016868598.1:p.Lys3897SerfsTer? | |
| XM_017013111.1:c.8765_8769dup (VPS13B) | XP_016868600.1:p.Lys2924SerfsTer? | |
| XM_017013112.1:c.7436_7440dup (VPS13B) | XP_016868601.1:p.Lys2481SerfsTer? | |
| XM_024447074.1:c.10664_10668dup (VPS13B) | XP_024302842.1:p.Lys3557SerfsTer? | |
| NM_017890.5:c.11879_11883dup (VPS13B) MANE Plus Clinical | NP_060360.3:p.Lys3962SerfsTer? | |
| NM_152564.5:c.11804_11808dup (VPS13B) MANE Select | NP_689777.3:p.Lys3937SerfsTer? |