Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060563_219060572del , CM000664.2:g.219060563_219060572del | GRCh38 |
| NC_000002.11:g.219925285_219925294del , CM000664.1:g.219925285_219925294del | GRCh37 |
| NC_000002.10:g.219633529_219633538del | NCBI36 |
| NG_016741.1:g.4951_4960del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-99_-90del MANE Select | ENSP00000295731.5:n.-99_-90del | |
| NM_002181.4:c.-99_-90del MANE Select | NP_002172.2:n.-99_-90del |