Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401362_17401363del , CM000663.2:g.17401362_17401363del | GRCh38 |
| NC_000001.10:g.17727858_17727859del , CM000663.1:g.17727858_17727859del | GRCh37 |
| NC_000001.9:g.17600445_17600446del | NCBI36 |
| NG_032943.1:g.34117_34118del | |
| NG_032943.2:g.34117_34118del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207421.4:c.2009_2010del MANE Select | NP_997304.3:p.Glu670GlyfsTer? |
| ENST00000619609.1:c.2009_2010del MANE Select | ENSP00000483125.1:p.Glu670GlyfsTer? |