Linked Data
dbSNP Id:
rs1466917662
gnomAD v2:
8-100788893-CTATA-C
gnomAD v3:
8-99776665-CTATA-C
gnomAD v4:
8-99776665-CTATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99776666_99776669del , CM000670.2:g.99776666_99776669del | GRCh38 |
| NC_000008.10:g.100788894_100788897del , CM000670.1:g.100788894_100788897del | GRCh37 |
| NC_000008.9:g.100858070_100858073del | NCBI36 |
| NG_007098.2:g.768401_768404del , LRG_351:g.768401_768404del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.7323-109_7323-106del | ENSP00000507923.1:n.7323-109_7323-106del | |
| ENST00000682358.1:n.7393-109_7393-106del | ||
| ENST00000683334.1:c.*3005-109_*3005-106del | ENSP00000507369.1:n.*3005-109_*3005-106del | |
| ENST00000357162.7:c.7248-109_7248-106del MANE Select | ENSP00000349685.2:n.7248-109_7248-106del | |
| ENST00000358544.7:c.7323-109_7323-106del MANE Plus Clinical | ENSP00000351346.2:n.7323-109_7323-106del | |
| ENST00000357162.6:c.7248-109_7248-106del | ENSP00000349685.2:n.7248-109_7248-106del | |
| ENST00000358544.6:c.7323-109_7323-106del | ENSP00000351346.2:n.7323-109_7323-106del | |
| ENST00000518569.1:n.378-2016_378-2013del | ||
| NM_017890.4:c.7323-109_7323-106del , LRG_351t1:c.7323-109_7323-106del | NP_060360.3:n.7323-109_7323-106del | |
| NM_152564.4:c.7248-109_7248-106del , LRG_351t2:c.7248-109_7248-106del | NP_689777.3:n.7248-109_7248-106del | |
| XM_005250800.2:c.7323-109_7323-106del | XP_005250857.1:n.7323-109_7323-106del | |
| XM_005250801.3:c.7323-109_7323-106del | XP_005250858.1:n.7323-109_7323-106del | |
| XM_011516848.1:c.7320-109_7320-106del | XP_011515150.1:n.7320-109_7320-106del | |
| XM_011516849.1:c.7245-109_7245-106del | XP_011515151.1:n.7245-109_7245-106del | |
| XM_011516850.1:c.6945-109_6945-106del | XP_011515152.1:n.6945-109_6945-106del | |
| XM_011516851.1:c.4209-109_4209-106del | XP_011515153.1:n.4209-109_4209-106del | |
| XM_011516852.1:c.4209-109_4209-106del | XP_011515154.1:n.4209-109_4209-106del | |
| XM_011516853.1:c.7323-109_7323-106del | XP_011515155.1:n.7323-109_7323-106del | |
| XM_011516854.1:c.3102-109_3102-106del | XP_011515156.1:n.3102-109_3102-106del | |
| XR_928446.1:n.1831-5747_1831-5744del | ||
| XM_005250800.3:c.7323-109_7323-106del | XP_005250857.1:n.7323-109_7323-106del | |
| XM_005250801.5:c.7323-109_7323-106del | XP_005250858.1:n.7323-109_7323-106del | |
| XM_011516848.2:c.7320-109_7320-106del | XP_011515150.1:n.7320-109_7320-106del | |
| XM_011516849.2:c.7245-109_7245-106del | XP_011515151.1:n.7245-109_7245-106del | |
| XM_011516850.2:c.6945-109_6945-106del | XP_011515152.1:n.6945-109_6945-106del | |
| XM_011516851.2:c.4209-109_4209-106del | XP_011515153.1:n.4209-109_4209-106del | |
| XM_011516852.2:c.4209-109_4209-106del | XP_011515154.1:n.4209-109_4209-106del | |
| XM_011516853.2:c.7323-109_7323-106del | XP_011515155.1:n.7323-109_7323-106del | |
| XM_011516854.2:c.3102-109_3102-106del | XP_011515156.1:n.3102-109_3102-106del | |
| XM_017013109.1:c.7128-109_7128-106del | XP_016868598.1:n.7128-109_7128-106del | |
| XM_017013111.1:c.4209-109_4209-106del | XP_016868600.1:n.4209-109_4209-106del | |
| XM_017013112.1:c.2880-109_2880-106del | XP_016868601.1:n.2880-109_2880-106del | |
| XM_024447074.1:c.6108-109_6108-106del | XP_024302842.1:n.6108-109_6108-106del | |
| NM_017890.5:c.7323-109_7323-106del MANE Plus Clinical | NP_060360.3:n.7323-109_7323-106del | |
| NM_152564.5:c.7248-109_7248-106del MANE Select | NP_689777.3:n.7248-109_7248-106del |