Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226796_5226820del , CM000673.2:g.5226796_5226820del | GRCh38 |
| NC_000011.9:g.5248026_5248050del , CM000673.1:g.5248026_5248050del | GRCh37 |
| NC_000011.8:g.5204602_5204626del | NCBI36 |
| NG_000007.3:g.70796_70820del | |
| NG_059281.1:g.5252_5276del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.93-21_96del | ||
| ENST00000335295.4:c.93-21_96del | ||
| ENST00000380315.2:c.93-21_96del | ||
| ENST00000475226.1:n.4_28del | ||
| ENST00000485743.1:n.144-21_147del | ||
| ENST00000633227.1:c.77-21_80del | ||
| NM_000518.4:c.93-21_96del | ||
| NM_000518.5:c.93-21_96del |