Linked Data
dbSNP Id:
rs1208980947
gnomAD v2:
16-14041695-AT-A
gnomAD v3:
16-13947838-AT-A
gnomAD v4:
16-13947838-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947839del , CM000678.2:g.13947839del | GRCh38 |
| NC_000016.9:g.14041696del , CM000678.1:g.14041696del | GRCh37 |
| NC_000016.8:g.13949197del | NCBI36 |
| NG_011442.1:g.32683del , LRG_463:g.32683del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2381del | ENSP00000507912.1:p.Met794SerfsTer11 | |
| ENST00000683962.1:c.*1937del | ENSP00000506854.1:n.*1937del | |
| ENST00000311895.8:c.2243del MANE Select | ENSP00000310520.7:p.Met748SerfsTer11 | |
| ENST00000311895.7:c.2243del | ENSP00000310520.7:p.Met748SerfsTer11 | |
| ENST00000389138.7:n.1520del | ||
| ENST00000462862.1:c.556del | ENSP00000461322.1:n.556del | |
| NM_005236.2:c.2243del , LRG_463t1:c.2243del | NP_005227.1:p.Met748SerfsTer11 | |
| XM_011522424.1:c.2381del | XP_011520726.1:p.Met794SerfsTer11 | |
| XM_011522425.1:c.1700del | XP_011520727.1:p.Met567SerfsTer11 | |
| XM_011522426.1:c.1454del | XP_011520728.1:p.Met485SerfsTer11 | |
| XM_011522427.1:c.893del | XP_011520729.1:p.Met298SerfsTer11 | |
| XR_932805.1:n.2402del | ||
| XM_011522424.3:c.2381del | XP_011520726.1:p.Met794SerfsTer11 | |
| XM_017023043.2:c.1454del | XP_016878532.1:p.Met485SerfsTer11 | |
| NM_005236.3:c.2243del MANE Select | NP_005227.1:p.Met748SerfsTer11 |