Linked Data
gnomAD v4:
18-60371450-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371451del , CM000680.2:g.60371451del | GRCh38 |
| NC_000018.9:g.58038684del , CM000680.1:g.58038684del | GRCh37 |
| NC_000018.8:g.56189664del | NCBI36 |
| NG_016441.1:g.6318del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.899del MANE Select | ENSP00000299766.3:p.Leu300ArgfsTer10 | |
| ENST00000299766.4:c.899del | ENSP00000299766.3:p.Leu300ArgfsTer10 | |
| NM_005912.2:c.899del | NP_005903.2:p.Leu300ArgfsTer10 | |
| NM_005912.3:c.899del MANE Select | NP_005903.2:p.Leu300ArgfsTer10 |