Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94409377_94409379del , CM000669.2:g.94409377_94409379del | GRCh38 |
| NC_000007.13:g.94038689_94038691del , CM000669.1:g.94038689_94038691del | GRCh37 |
| NC_000007.12:g.93876625_93876627del | NCBI36 |
| NG_007405.1:g.19817_19819del , LRG_2:g.19817_19819del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.848_850del MANE Select | ENSP00000297268.6:p.Gly283del | |
| ENST00000297268.10:c.848_850del | ENSP00000297268.6:p.Gly283del | |
| ENST00000620463.1:c.842_844del | ENSP00000477719.1:p.Gly281del | |
| NM_000089.3:c.848_850del , LRG_2t1:c.848_850del | NP_000080.2:p.Gly283del | |
| NM_000089.4:c.848_850del MANE Select | NP_000080.2:p.Gly283del |