Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199591_50199592del , CM000679.2:g.50199591_50199592del | GRCh38 |
| NC_000017.10:g.48276952_48276953del , CM000679.1:g.48276952_48276953del | GRCh37 |
| NC_000017.9:g.45631951_45631952del | NCBI36 |
| NG_007400.1:g.7050_7051del , LRG_1:g.7050_7051del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000088.3:c.299_300del , LRG_1t1:c.299_300del | |
| NM_000088.4:c.299_300del | |
| ENST00000225964.10:c.299_300del | |
| ENST00000225964.9:c.299_300del | |
| ENST00000474644.1:n.418_419del | |
| ENST00000507689.1:c.353_354del | |
| XM_005257058.3:c.299_300del | |
| XM_005257058.4:c.299_300del | |
| XM_005257059.3:c.299_300del | |
| XM_005257059.4:c.299_300del | |
| XM_011524341.1:c.299_300del |