Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117209855_117209862del , CM000672.2:g.117209855_117209862del | GRCh38 |
| NC_000010.10:g.118969366_118969373del , CM000672.1:g.118969366_118969373del | GRCh37 |
| NC_000010.9:g.118959356_118959363del | NCBI36 |
| NG_028085.1:g.17367_17374del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334549.1:c.711_718del MANE Select | ENSP00000334650.1:p.Gln237HisfsTer12 | |
| NM_181840.1:c.711_718del MANE Select | NP_862823.1:p.Gln237HisfsTer12 |