Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060591_219060640del , CM000664.2:g.219060591_219060640del | GRCh38 |
| NC_000002.11:g.219925313_219925362del , CM000664.1:g.219925313_219925362del | GRCh37 |
| NC_000002.10:g.219633557_219633606del | NCBI36 |
| NG_016741.1:g.4883_4932del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-167_-118del MANE Select | ENSP00000295731.5:n.-167_-118del | |
| NM_002181.4:c.-167_-118del MANE Select | NP_002172.2:n.-167_-118del |