Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123440_72123441del , CM000679.2:g.72123440_72123441del | GRCh38 |
| NC_000017.10:g.70119581_70119582del , CM000679.1:g.70119581_70119582del | GRCh37 |
| NC_000017.9:g.67631176_67631177del | NCBI36 |
| NG_012490.1:g.7421_7422del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.686-103_686-102del MANE Select | ENSP00000245479.2:n.686-103_686-102del | |
| ENST00000245479.2:c.686-103_686-102del | ENSP00000245479.2:n.686-103_686-102del | |
| NM_000346.3:c.686-103_686-102del | NP_000337.1:n.686-103_686-102del | |
| NM_000346.4:c.686-103_686-102del MANE Select | NP_000337.1:n.686-103_686-102del |