Linked Data
dbSNP Id:
rs1045294823
gnomAD v2:
8-100403592-T-TGA
gnomAD v3:
8-99391364-T-TGA
gnomAD v4:
8-99391364-T-TGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99391375_99391376dup , CM000670.2:g.99391375_99391376dup | GRCh38 |
| NC_000008.10:g.100403603_100403604dup , CM000670.1:g.100403603_100403604dup | GRCh37 |
| NC_000008.9:g.100472779_100472780dup | NCBI36 |
| NG_007098.2:g.383110_383111dup , LRG_351:g.383110_383111dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355155.6:c.2935-185_2935-184dup | ENSP00000347281.2:n.2935-185_2935-184dup | |
| ENST00000682145.1:n.2812-182_2812-181dup | ||
| ENST00000682153.1:c.2935-182_2935-181dup | ENSP00000507923.1:n.2935-182_2935-181dup | |
| ENST00000682234.1:c.2935-182_2935-181dup | ENSP00000508225.1:n.2935-182_2935-181dup | |
| ENST00000682358.1:n.3005-182_3005-181dup | ||
| ENST00000683334.1:c.2935-182_2935-181dup | ENSP00000507369.1:n.2935-182_2935-181dup | |
| ENST00000683486.1:n.3001-182_3001-181dup | ||
| ENST00000683619.1:n.3107-182_3107-181dup | ||
| ENST00000683869.1:n.3016-182_3016-181dup | ||
| ENST00000357162.7:c.2935-182_2935-181dup MANE Select | ENSP00000349685.2:n.2935-182_2935-181dup | |
| ENST00000358544.7:c.2935-182_2935-181dup MANE Plus Clinical | ENSP00000351346.2:n.2935-182_2935-181dup | |
| ENST00000357162.6:c.2935-182_2935-181dup | ENSP00000349685.2:n.2935-182_2935-181dup | |
| ENST00000358544.6:c.2935-182_2935-181dup | ENSP00000351346.2:n.2935-182_2935-181dup | |
| ENST00000496144.5:c.2935-182_2935-181dup | ENSP00000430900.1:n.2935-182_2935-181dup | |
| ENST00000521037.1:n.106-182_106-181dup | ||
| ENST00000522802.5:n.157-182_157-181dup | ||
| NM_017890.4:c.2935-182_2935-181dup , LRG_351t1:c.2935-182_2935-181dup | NP_060360.3:n.2935-182_2935-181dup | |
| NM_152564.4:c.2935-182_2935-181dup , LRG_351t2:c.2935-182_2935-181dup | NP_689777.3:n.2935-182_2935-181dup | |
| XM_005250800.2:c.2935-182_2935-181dup | XP_005250857.1:n.2935-182_2935-181dup | |
| XM_005250801.3:c.2935-182_2935-181dup | XP_005250858.1:n.2935-182_2935-181dup | |
| XM_006716510.2:c.2935-182_2935-181dup | XP_006716573.1:n.2935-182_2935-181dup | |
| XM_011516848.1:c.2935-185_2935-184dup | XP_011515150.1:n.2935-185_2935-184dup | |
| XM_011516849.1:c.2935-182_2935-181dup | XP_011515151.1:n.2935-182_2935-181dup | |
| XM_011516850.1:c.2557-182_2557-181dup | XP_011515152.1:n.2557-182_2557-181dup | |
| XM_011516853.1:c.2935-182_2935-181dup | XP_011515155.1:n.2935-182_2935-181dup | |
| XM_011516855.1:c.2935-182_2935-181dup | XP_011515157.1:n.2935-182_2935-181dup | |
| XM_011516856.1:c.2935-182_2935-181dup | XP_011515158.1:n.2935-182_2935-181dup | |
| XM_011516857.1:c.2935-182_2935-181dup | XP_011515159.1:n.2935-182_2935-181dup | |
| XM_011516858.1:c.2935-182_2935-181dup | XP_011515160.1:n.2935-182_2935-181dup | |
| XM_011516859.1:c.2935-182_2935-181dup | XP_011515161.1:n.2935-182_2935-181dup | |
| XM_011516860.1:c.2935-182_2935-181dup | XP_011515162.1:n.2935-182_2935-181dup | |
| XM_011516861.1:c.2935-182_2935-181dup | XP_011515163.1:n.2935-182_2935-181dup | |
| XR_928301.1:n.3038-182_3038-181dup | ||
| XR_928302.1:n.3038-182_3038-181dup | ||
| XR_928303.1:n.3038-182_3038-181dup | ||
| XR_928304.1:n.3038-182_3038-181dup | ||
| XM_005250800.3:c.2935-182_2935-181dup | XP_005250857.1:n.2935-182_2935-181dup | |
| XM_005250801.5:c.2935-182_2935-181dup | XP_005250858.1:n.2935-182_2935-181dup | |
| XM_006716510.3:c.2935-182_2935-181dup | XP_006716573.1:n.2935-182_2935-181dup | |
| XM_011516848.2:c.2935-185_2935-184dup | XP_011515150.1:n.2935-185_2935-184dup | |
| XM_011516849.2:c.2935-182_2935-181dup | XP_011515151.1:n.2935-182_2935-181dup | |
| XM_011516850.2:c.2557-182_2557-181dup | XP_011515152.1:n.2557-182_2557-181dup | |
| XM_011516853.2:c.2935-182_2935-181dup | XP_011515155.1:n.2935-182_2935-181dup | |
| XM_011516859.2:c.2935-182_2935-181dup | XP_011515161.1:n.2935-182_2935-181dup | |
| XM_017013109.1:c.2740-182_2740-181dup | XP_016868598.1:n.2740-182_2740-181dup | |
| XM_024447074.1:c.1720-182_1720-181dup | XP_024302842.1:n.1720-182_1720-181dup | |
| XM_024447075.1:c.2935-182_2935-181dup | XP_024302843.1:n.2935-182_2935-181dup | |
| XR_001745481.1:n.3038-182_3038-181dup | ||
| XR_001745482.2:n.3038-182_3038-181dup | ||
| XR_001745484.2:n.3038-182_3038-181dup | ||
| XR_002956601.1:n.3038-185_3038-184dup | ||
| XR_002956602.1:n.3038-182_3038-181dup | ||
| XR_928302.2:n.3038-182_3038-181dup | ||
| NM_017890.5:c.2935-182_2935-181dup MANE Plus Clinical | NP_060360.3:n.2935-182_2935-181dup | |
| NM_152564.5:c.2935-182_2935-181dup MANE Select | NP_689777.3:n.2935-182_2935-181dup |