Linked Data
gnomAD v4:
20-46011514-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011519del , CM000682.2:g.46011519del | GRCh38 |
| NC_000020.10:g.44640158del , CM000682.1:g.44640158del | GRCh37 |
| NC_000020.9:g.44073565del | NCBI36 |
| NG_011468.1:g.7612del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.824-55del MANE Select | ENSP00000361405.3:n.824-55del | |
| NM_004994.2:c.824-55del | NP_004985.2:n.824-55del | |
| NM_004994.3:c.824-55del MANE Select | NP_004985.2:n.824-55del |