Linked Data
dbSNP Id:
rs745701349
ExAC:
8:100880571 AG / A
gnomAD v2:
8-100880571-AG-A
gnomAD v4:
8-99868343-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868345del , CM000670.2:g.99868345del | GRCh38 |
| NC_000008.10:g.100880573del , CM000670.1:g.100880573del | GRCh37 |
| NC_000008.9:g.100949749del | NCBI36 |
| NG_007098.2:g.860080del , LRG_351:g.860080del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*441del | ENSP00000507923.1:n.*441del | |
| ENST00000682358.1:n.11417del | ||
| ENST00000683334.1:c.*7029del | ENSP00000507369.1:n.*7029del | |
| ENST00000357162.7:c.11272del MANE Select | ENSP00000349685.2:p.Ala3758HisfsTer? | |
| ENST00000358544.7:c.11347del MANE Plus Clinical | ENSP00000351346.2:p.Ala3783HisfsTer? | |
| ENST00000357162.6:c.11272del | ENSP00000349685.2:p.Ala3758HisfsTer? | |
| ENST00000358544.6:c.11347del | ENSP00000351346.2:p.Ala3783HisfsTer? | |
| ENST00000493587.1:n.289del | ||
| NM_017890.4:c.11347del , LRG_351t1:c.11347del | NP_060360.3:p.Ala3783HisfsTer? | |
| NM_152564.4:c.11272del , LRG_351t2:c.11272del | NP_689777.3:p.Ala3758HisfsTer? | |
| XM_005250800.2:c.11347del | XP_005250857.1:p.Ala3783HisfsTer? | |
| XM_005250801.3:c.11347del | XP_005250858.1:p.Ala3783HisfsTer? | |
| XM_011516848.1:c.11344del | XP_011515150.1:p.Ala3782HisfsTer? | |
| XM_011516849.1:c.11269del | XP_011515151.1:p.Ala3757HisfsTer? | |
| XM_011516850.1:c.10969del | XP_011515152.1:p.Ala3657HisfsTer? | |
| XM_011516851.1:c.8233del | XP_011515153.1:p.Ala2745HisfsTer? | |
| XM_011516852.1:c.8233del | XP_011515154.1:p.Ala2745HisfsTer? | |
| XM_011516854.1:c.7126del | XP_011515156.1:p.Ala2376HisfsTer? | |
| XM_005250800.3:c.11347del | XP_005250857.1:p.Ala3783HisfsTer? | |
| XM_005250801.5:c.11347del | XP_005250858.1:p.Ala3783HisfsTer? | |
| XM_011516848.2:c.11344del | XP_011515150.1:p.Ala3782HisfsTer? | |
| XM_011516849.2:c.11269del | XP_011515151.1:p.Ala3757HisfsTer? | |
| XM_011516850.2:c.10969del | XP_011515152.1:p.Ala3657HisfsTer? | |
| XM_011516851.2:c.8233del | XP_011515153.1:p.Ala2745HisfsTer? | |
| XM_011516852.2:c.8233del | XP_011515154.1:p.Ala2745HisfsTer? | |
| XM_011516854.2:c.7126del | XP_011515156.1:p.Ala2376HisfsTer? | |
| XM_017013109.1:c.11152del | XP_016868598.1:p.Ala3718HisfsTer? | |
| XM_017013111.1:c.8233del | XP_016868600.1:p.Ala2745HisfsTer? | |
| XM_017013112.1:c.6904del | XP_016868601.1:p.Ala2302HisfsTer? | |
| XM_024447074.1:c.10132del | XP_024302842.1:p.Ala3378HisfsTer? | |
| NM_017890.5:c.11347del MANE Plus Clinical | NP_060360.3:p.Ala3783HisfsTer? | |
| NM_152564.5:c.11272del MANE Select | NP_689777.3:p.Ala3758HisfsTer? |