Linked Data
dbSNP Id:
rs755000339
ExAC:
8:100887730 CCCA / C
gnomAD v2:
8-100887730-CCCA-C
gnomAD v3:
8-99875502-CCCA-C
gnomAD v4:
8-99875502-CCCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875503_99875505del , CM000670.2:g.99875503_99875505del | GRCh38 |
| NC_000008.10:g.100887731_100887733del , CM000670.1:g.100887731_100887733del | GRCh37 |
| NC_000008.9:g.100956907_100956909del | NCBI36 |
| NG_007098.2:g.867238_867240del , LRG_351:g.867238_867240del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1560_*1562del (VPS13B) | ENSP00000507923.1:n.*1560_*1562del | |
| ENST00000682358.1:n.12536_12538del (VPS13B) | ||
| ENST00000683334.1:c.*7588_*7590del (VPS13B) | ENSP00000507369.1:n.*7588_*7590del | |
| ENST00000357162.7:c.11831_11833del (VPS13B) MANE Select | ENSP00000349685.2:p.Pro3944_Ser3945delinsArg | |
| ENST00000358544.7:c.11906_11908del (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Pro3969_Ser3970delinsArg | |
| ENST00000357162.6:c.11831_11833del (VPS13B) | ENSP00000349685.2:p.Pro3944_Ser3945delinsArg | |
| ENST00000358544.6:c.11906_11908del (VPS13B) | ENSP00000351346.2:p.Pro3969_Ser3970delinsArg | |
| ENST00000493587.1:n.1408_1410del (VPS13B) | ||
| ENST00000520517.5:c.*142-413_*142-411del (COX6C) | ENSP00000429991.1:n.*142-413_*142-411del | |
| ENST00000522934.5:c.*142-2212_*142-2210del (COX6C) | ENSP00000428702.1:n.*142-2212_*142-2210del | |
| NM_017890.4:c.11906_11908del , LRG_351t1:c.11906_11908del (VPS13B) | NP_060360.3:p.Pro3969_Ser3970delinsArg | |
| NM_152564.4:c.11831_11833del , LRG_351t2:c.11831_11833del (VPS13B) | NP_689777.3:p.Pro3944_Ser3945delinsArg | |
| XM_005250800.2:c.11906_11908del (VPS13B) | XP_005250857.1:p.Pro3969_Ser3970delinsArg | |
| XM_005250801.3:c.11906_11908del (VPS13B) | XP_005250858.1:p.Pro3969_Ser3970delinsArg | |
| XM_011516848.1:c.11903_11905del (VPS13B) | XP_011515150.1:p.Pro3968_Ser3969delinsArg | |
| XM_011516849.1:c.11828_11830del (VPS13B) | XP_011515151.1:p.Pro3943_Ser3944delinsArg | |
| XM_011516850.1:c.11528_11530del (VPS13B) | XP_011515152.1:p.Pro3843_Ser3844delinsArg | |
| XM_011516851.1:c.8792_8794del (VPS13B) | XP_011515153.1:p.Pro2931_Ser2932delinsArg | |
| XM_011516852.1:c.8792_8794del (VPS13B) | XP_011515154.1:p.Pro2931_Ser2932delinsArg | |
| XM_011516854.1:c.7685_7687del (VPS13B) | XP_011515156.1:p.Pro2562_Ser2563delinsArg | |
| XM_005250800.3:c.11906_11908del (VPS13B) | XP_005250857.1:p.Pro3969_Ser3970delinsArg | |
| XM_005250801.5:c.11906_11908del (VPS13B) | XP_005250858.1:p.Pro3969_Ser3970delinsArg | |
| XM_011516848.2:c.11903_11905del (VPS13B) | XP_011515150.1:p.Pro3968_Ser3969delinsArg | |
| XM_011516849.2:c.11828_11830del (VPS13B) | XP_011515151.1:p.Pro3943_Ser3944delinsArg | |
| XM_011516850.2:c.11528_11530del (VPS13B) | XP_011515152.1:p.Pro3843_Ser3844delinsArg | |
| XM_011516851.2:c.8792_8794del (VPS13B) | XP_011515153.1:p.Pro2931_Ser2932delinsArg | |
| XM_011516852.2:c.8792_8794del (VPS13B) | XP_011515154.1:p.Pro2931_Ser2932delinsArg | |
| XM_011516854.2:c.7685_7687del (VPS13B) | XP_011515156.1:p.Pro2562_Ser2563delinsArg | |
| XM_017013109.1:c.11711_11713del (VPS13B) | XP_016868598.1:p.Pro3904_Ser3905delinsArg | |
| XM_017013111.1:c.8792_8794del (VPS13B) | XP_016868600.1:p.Pro2931_Ser2932delinsArg | |
| XM_017013112.1:c.7463_7465del (VPS13B) | XP_016868601.1:p.Pro2488_Ser2489delinsArg | |
| XM_024447074.1:c.10691_10693del (VPS13B) | XP_024302842.1:p.Pro3564_Ser3565delinsArg | |
| NM_017890.5:c.11906_11908del (VPS13B) MANE Plus Clinical | NP_060360.3:p.Pro3969_Ser3970delinsArg | |
| NM_152564.5:c.11831_11833del (VPS13B) MANE Select | NP_689777.3:p.Pro3944_Ser3945delinsArg |