Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17381906del , CM000663.2:g.17381906del | GRCh38 |
| NC_000001.10:g.17708401del , CM000663.1:g.17708401del | GRCh37 |
| NC_000001.9:g.17580988del | NCBI36 |
| NG_032943.1:g.14661del | |
| NG_032943.2:g.14661del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.554-61del MANE Select | ENSP00000483125.1:n.554-61del | |
| NM_207421.4:c.554-61del MANE Select | NP_997304.3:n.554-61del |