Linked Data
gnomAD v4:
18-60371367-AAGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371369_60371372del , CM000680.2:g.60371369_60371372del | GRCh38 |
| NC_000018.9:g.58038602_58038605del , CM000680.1:g.58038602_58038605del | GRCh37 |
| NC_000018.8:g.56189582_56189585del | NCBI36 |
| NG_016441.1:g.6398_6401del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.979_982del MANE Select | ENSP00000299766.3:p.Asp327CysfsTer27 | |
| ENST00000299766.4:c.979_982del | ENSP00000299766.3:p.Asp327CysfsTer27 | |
| NM_005912.2:c.979_982del | NP_005903.2:p.Asp327CysfsTer? | |
| NM_005912.3:c.979_982del MANE Select | NP_005903.2:p.Asp327CysfsTer27 |