Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10607629_10608237del , CM000670.2:g.10607629_10608237del | GRCh38 |
| NC_000008.10:g.10465139_10465747del , CM000670.1:g.10465139_10465747del | GRCh37 |
| NC_000008.9:g.10502549_10503157del | NCBI36 |
| NG_028035.1:g.51889_52497del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178857.6:c.5879_6487del MANE Select | NP_849188.4:p.Val1960_Glu2162del |
| ENST00000382483.4:c.5879_6487del MANE Select | ENSP00000371923.3:p.Val1960_Glu2162del |
| NM_178857.5:c.5879_6487del | NP_849188.4:p.Val1960_Glu2162del |
| ENST00000382483.3:c.5879_6487del | ENSP00000371923.3:p.Val1960_Glu2162del |