Linked Data
dbSNP Id:
rs1563704277
gnomAD v2:
8-100403760-A-ATT
gnomAD v3:
8-99391532-A-ATT
gnomAD v4:
8-99391532-A-ATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99391532_99391533insTT , CM000670.2:g.99391532_99391533insTT | GRCh38 |
| NC_000008.10:g.100403760_100403761insTT , CM000670.1:g.100403760_100403761insTT | GRCh37 |
| NC_000008.9:g.100472936_100472937insTT | NCBI36 |
| NG_007098.2:g.383267_383268insTT , LRG_351:g.383267_383268insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355155.6:c.2935-28_2935-27insTT | ENSP00000347281.2:n.2935-28_2935-27insTT | |
| ENST00000682145.1:n.2812-25_2812-24insTT | ||
| ENST00000682153.1:c.2935-25_2935-24insTT | ENSP00000507923.1:n.2935-25_2935-24insTT | |
| ENST00000682234.1:c.2935-25_2935-24insTT | ENSP00000508225.1:n.2935-25_2935-24insTT | |
| ENST00000682358.1:n.3005-25_3005-24insTT | ||
| ENST00000683334.1:c.2935-25_2935-24insTT | ENSP00000507369.1:n.2935-25_2935-24insTT | |
| ENST00000683486.1:n.3001-25_3001-24insTT | ||
| ENST00000683619.1:n.3107-25_3107-24insTT | ||
| ENST00000683869.1:n.3016-25_3016-24insTT | ||
| ENST00000357162.7:c.2935-25_2935-24insTT MANE Select | ENSP00000349685.2:n.2935-25_2935-24insTT | |
| ENST00000358544.7:c.2935-25_2935-24insTT MANE Plus Clinical | ENSP00000351346.2:n.2935-25_2935-24insTT | |
| ENST00000357162.6:c.2935-25_2935-24insTT | ENSP00000349685.2:n.2935-25_2935-24insTT | |
| ENST00000358544.6:c.2935-25_2935-24insTT | ENSP00000351346.2:n.2935-25_2935-24insTT | |
| ENST00000496144.5:c.2935-25_2935-24insTT | ENSP00000430900.1:n.2935-25_2935-24insTT | |
| ENST00000521037.1:n.106-25_106-24insTT | ||
| ENST00000522802.5:n.157-25_157-24insTT | ||
| NM_017890.4:c.2935-25_2935-24insTT , LRG_351t1:c.2935-25_2935-24insTT | NP_060360.3:n.2935-25_2935-24insTT | |
| NM_152564.4:c.2935-25_2935-24insTT , LRG_351t2:c.2935-25_2935-24insTT | NP_689777.3:n.2935-25_2935-24insTT | |
| XM_005250800.2:c.2935-25_2935-24insTT | XP_005250857.1:n.2935-25_2935-24insTT | |
| XM_005250801.3:c.2935-25_2935-24insTT | XP_005250858.1:n.2935-25_2935-24insTT | |
| XM_006716510.2:c.2935-25_2935-24insTT | XP_006716573.1:n.2935-25_2935-24insTT | |
| XM_011516848.1:c.2935-28_2935-27insTT | XP_011515150.1:n.2935-28_2935-27insTT | |
| XM_011516849.1:c.2935-25_2935-24insTT | XP_011515151.1:n.2935-25_2935-24insTT | |
| XM_011516850.1:c.2557-25_2557-24insTT | XP_011515152.1:n.2557-25_2557-24insTT | |
| XM_011516853.1:c.2935-25_2935-24insTT | XP_011515155.1:n.2935-25_2935-24insTT | |
| XM_011516855.1:c.2935-25_2935-24insTT | XP_011515157.1:n.2935-25_2935-24insTT | |
| XM_011516856.1:c.2935-25_2935-24insTT | XP_011515158.1:n.2935-25_2935-24insTT | |
| XM_011516857.1:c.2935-25_2935-24insTT | XP_011515159.1:n.2935-25_2935-24insTT | |
| XM_011516858.1:c.2935-25_2935-24insTT | XP_011515160.1:n.2935-25_2935-24insTT | |
| XM_011516859.1:c.2935-25_2935-24insTT | XP_011515161.1:n.2935-25_2935-24insTT | |
| XM_011516860.1:c.2935-25_2935-24insTT | XP_011515162.1:n.2935-25_2935-24insTT | |
| XM_011516861.1:c.2935-25_2935-24insTT | XP_011515163.1:n.2935-25_2935-24insTT | |
| XR_928301.1:n.3038-25_3038-24insTT | ||
| XR_928302.1:n.3038-25_3038-24insTT | ||
| XR_928303.1:n.3038-25_3038-24insTT | ||
| XR_928304.1:n.3038-25_3038-24insTT | ||
| XM_005250800.3:c.2935-25_2935-24insTT | XP_005250857.1:n.2935-25_2935-24insTT | |
| XM_005250801.5:c.2935-25_2935-24insTT | XP_005250858.1:n.2935-25_2935-24insTT | |
| XM_006716510.3:c.2935-25_2935-24insTT | XP_006716573.1:n.2935-25_2935-24insTT | |
| XM_011516848.2:c.2935-28_2935-27insTT | XP_011515150.1:n.2935-28_2935-27insTT | |
| XM_011516849.2:c.2935-25_2935-24insTT | XP_011515151.1:n.2935-25_2935-24insTT | |
| XM_011516850.2:c.2557-25_2557-24insTT | XP_011515152.1:n.2557-25_2557-24insTT | |
| XM_011516853.2:c.2935-25_2935-24insTT | XP_011515155.1:n.2935-25_2935-24insTT | |
| XM_011516859.2:c.2935-25_2935-24insTT | XP_011515161.1:n.2935-25_2935-24insTT | |
| XM_017013109.1:c.2740-25_2740-24insTT | XP_016868598.1:n.2740-25_2740-24insTT | |
| XM_024447074.1:c.1720-25_1720-24insTT | XP_024302842.1:n.1720-25_1720-24insTT | |
| XM_024447075.1:c.2935-25_2935-24insTT | XP_024302843.1:n.2935-25_2935-24insTT | |
| XR_001745481.1:n.3038-25_3038-24insTT | ||
| XR_001745482.2:n.3038-25_3038-24insTT | ||
| XR_001745484.2:n.3038-25_3038-24insTT | ||
| XR_002956601.1:n.3038-28_3038-27insTT | ||
| XR_002956602.1:n.3038-25_3038-24insTT | ||
| XR_928302.2:n.3038-25_3038-24insTT | ||
| NM_017890.5:c.2935-25_2935-24insTT MANE Plus Clinical | NP_060360.3:n.2935-25_2935-24insTT | |
| NM_152564.5:c.2935-25_2935-24insTT MANE Select | NP_689777.3:n.2935-25_2935-24insTT |