Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100721564del , CM000669.2:g.100721564del | GRCh38 |
| NC_000007.13:g.100319187del , CM000669.1:g.100319187del | GRCh37 |
| NC_000007.12:g.100157123del | NCBI36 |
| NG_021471.1:g.5765del | |
| NG_021471.2:g.5765del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000799.4:c.20del MANE Select | NP_000790.2:p.Pro7LeufsTer? |
| ENST00000252723.3:c.20del MANE Select | ENSP00000252723.2:p.Pro7LeufsTer? |
| NM_000799.2:c.20del | NP_000790.2:p.Pro7LeufsTer? |
| NM_000799.3:c.20del | NP_000790.2:p.Pro7LeufsTer? |
| ENST00000252723.2:c.20del | ENSP00000252723.2:p.Pro7LeufsTer? |