Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060497_219060505del , CM000664.2:g.219060497_219060505del | GRCh38 |
| NC_000002.11:g.219925219_219925227del , CM000664.1:g.219925219_219925227del | GRCh37 |
| NC_000002.10:g.219633463_219633471del | NCBI36 |
| NG_016741.1:g.5012_5020del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-38_-30del MANE Select | ENSP00000295731.5:n.-38_-30del | |
| NM_002181.3:c.-38_-30del | NP_002172.2:n.-38_-30del | |
| NM_002181.4:c.-38_-30del MANE Select | NP_002172.2:n.-38_-30del |