Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122475_72122476del , CM000679.2:g.72122475_72122476del | GRCh38 |
| NC_000017.10:g.70118616_70118617del , CM000679.1:g.70118616_70118617del | GRCh37 |
| NC_000017.9:g.67630211_67630212del | NCBI36 |
| NG_012490.1:g.6456_6457del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.432-244_432-243del MANE Select | ENSP00000245479.2:n.432-244_432-243del | |
| ENST00000245479.2:c.432-244_432-243del | ENSP00000245479.2:n.432-244_432-243del | |
| NM_000346.3:c.432-244_432-243del | NP_000337.1:n.432-244_432-243del | |
| NM_000346.4:c.432-244_432-243del MANE Select | NP_000337.1:n.432-244_432-243del |