Linked Data
dbSNP Id:
rs1316277339
gnomAD v2:
8-100873968-GACAAGGAGGCTA-G
gnomAD v4:
8-99861740-GACAAGGAGGCTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99861743_99861754del , CM000670.2:g.99861743_99861754del | GRCh38 |
| NC_000008.10:g.100873971_100873982del , CM000670.1:g.100873971_100873982del | GRCh37 |
| NC_000008.9:g.100943147_100943158del | NCBI36 |
| NG_007098.2:g.853478_853489del , LRG_351:g.853478_853489del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*214-33_*214-22del | ENSP00000507923.1:n.*214-33_*214-22del | |
| ENST00000682358.1:n.11190-33_11190-22del | ||
| ENST00000683334.1:c.*6802-33_*6802-22del | ENSP00000507369.1:n.*6802-33_*6802-22del | |
| ENST00000357162.7:c.11045-33_11045-22del MANE Select | ENSP00000349685.2:n.11045-33_11045-22del | |
| ENST00000358544.7:c.11120-33_11120-22del MANE Plus Clinical | ENSP00000351346.2:n.11120-33_11120-22del | |
| ENST00000357162.6:c.11045-33_11045-22del | ENSP00000349685.2:n.11045-33_11045-22del | |
| ENST00000358544.6:c.11120-33_11120-22del | ENSP00000351346.2:n.11120-33_11120-22del | |
| NM_017890.4:c.11120-33_11120-22del , LRG_351t1:c.11120-33_11120-22del | NP_060360.3:n.11120-33_11120-22del | |
| NM_152564.4:c.11045-33_11045-22del , LRG_351t2:c.11045-33_11045-22del | NP_689777.3:n.11045-33_11045-22del | |
| XM_005250800.2:c.11120-33_11120-22del | XP_005250857.1:n.11120-33_11120-22del | |
| XM_005250801.3:c.11120-33_11120-22del | XP_005250858.1:n.11120-33_11120-22del | |
| XM_011516848.1:c.11117-33_11117-22del | XP_011515150.1:n.11117-33_11117-22del | |
| XM_011516849.1:c.11042-33_11042-22del | XP_011515151.1:n.11042-33_11042-22del | |
| XM_011516850.1:c.10742-33_10742-22del | XP_011515152.1:n.10742-33_10742-22del | |
| XM_011516851.1:c.8006-33_8006-22del | XP_011515153.1:n.8006-33_8006-22del | |
| XM_011516852.1:c.8006-33_8006-22del | XP_011515154.1:n.8006-33_8006-22del | |
| XM_011516854.1:c.6899-33_6899-22del | XP_011515156.1:n.6899-33_6899-22del | |
| XM_005250800.3:c.11120-33_11120-22del | XP_005250857.1:n.11120-33_11120-22del | |
| XM_005250801.5:c.11120-33_11120-22del | XP_005250858.1:n.11120-33_11120-22del | |
| XM_011516848.2:c.11117-33_11117-22del | XP_011515150.1:n.11117-33_11117-22del | |
| XM_011516849.2:c.11042-33_11042-22del | XP_011515151.1:n.11042-33_11042-22del | |
| XM_011516850.2:c.10742-33_10742-22del | XP_011515152.1:n.10742-33_10742-22del | |
| XM_011516851.2:c.8006-33_8006-22del | XP_011515153.1:n.8006-33_8006-22del | |
| XM_011516852.2:c.8006-33_8006-22del | XP_011515154.1:n.8006-33_8006-22del | |
| XM_011516854.2:c.6899-33_6899-22del | XP_011515156.1:n.6899-33_6899-22del | |
| XM_017013109.1:c.10925-33_10925-22del | XP_016868598.1:n.10925-33_10925-22del | |
| XM_017013111.1:c.8006-33_8006-22del | XP_016868600.1:n.8006-33_8006-22del | |
| XM_017013112.1:c.6677-33_6677-22del | XP_016868601.1:n.6677-33_6677-22del | |
| XM_024447074.1:c.9905-33_9905-22del | XP_024302842.1:n.9905-33_9905-22del | |
| NM_017890.5:c.11120-33_11120-22del MANE Plus Clinical | NP_060360.3:n.11120-33_11120-22del | |
| NM_152564.5:c.11045-33_11045-22del MANE Select | NP_689777.3:n.11045-33_11045-22del |