Linked Data
gnomAD v4:
17-7454479-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454480del , CM000679.2:g.7454480del | GRCh38 |
| NC_000017.10:g.7357799del , CM000679.1:g.7357799del | GRCh37 |
| NC_000017.9:g.7298523del | NCBI36 |
| NG_008026.1:g.14394del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1004del MANE Select | ENSP00000304290.2:p.Arg335ProfsTer26 | |
| ENST00000306071.6:c.1004del | ENSP00000304290.2:p.Arg335ProfsTer26 | |
| ENST00000536404.6:c.788del | ENSP00000439209.2:p.Arg263ProfsTer26 | |
| ENST00000570557.5:c.667del | ||
| ENST00000573209.1:n.1948del | ||
| ENST00000576360.1:c.641del | ENSP00000459092.1:p.Arg214ProfsTer26 | |
| NM_000747.2:c.1004del | NP_000738.2:p.Arg335ProfsTer26 | |
| NM_000747.3:c.1004del MANE Select | NP_000738.2:p.Arg335ProfsTer26 |