Linked Data
dbSNP Id:
rs1286626968
gnomAD v2:
12-12873014-CAT-C
gnomAD v3:
12-12720080-CAT-C
gnomAD v4:
12-12720080-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12720083_12720084del , CM000674.2:g.12720083_12720084del | GRCh38 |
| NC_000012.11:g.12873017_12873018del , CM000674.1:g.12873017_12873018del | GRCh37 |
| NC_000012.10:g.12764284_12764285del | NCBI36 |
| NG_016341.1:g.7716_7717del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.*1137_*1138del | ENSP00000507272.1:n.*1137_*1138del | |
| ENST00000682620.1:n.1761-953_1761-952del | ||
| ENST00000684771.1:n.715-953_715-952del | ||
| ENST00000228872.9:c.*9-953_*9-952del MANE Select | ENSP00000228872.4:n.*9-953_*9-952del | |
| ENST00000228872.8:c.*9-953_*9-952del | ENSP00000228872.4:n.*9-953_*9-952del | |
| ENST00000396340.1:c.476-982_476-981del | ENSP00000379629.1:n.476-982_476-981del | |
| ENST00000442489.1:c.324-953_324-952del | ENSP00000407597.1:n.324-953_324-952del | |
| ENST00000477087.1:n.285-953_285-952del | ||
| NM_004064.4:c.*9-953_*9-952del | NP_004055.1:n.*9-953_*9-952del | |
| NM_004064.5:c.*9-953_*9-952del MANE Select | NP_004055.1:n.*9-953_*9-952del |