Linked Data
gnomAD v4:
4-24799875-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799879del , CM000666.2:g.24799879del | GRCh38 |
| NC_000004.11:g.24801501del , CM000666.1:g.24801501del | GRCh37 |
| NC_000004.10:g.24410599del | NCBI36 |
| NG_012213.1:g.9417del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.358del MANE Select | ENSP00000371554.3:p.Asp120ThrfsTer2 | |
| ENST00000382120.3:c.358del | ENSP00000371554.3:p.Asp120ThrfsTer2 | |
| NM_003102.2:c.358del | NP_003093.2:p.Asp120ThrfsTer2 | |
| XR_427488.1:n.548del | ||
| NM_003102.3:c.358del | NP_003093.2:p.Asp120ThrfsTer2 | |
| NM_003102.4:c.358del MANE Select | NP_003093.2:p.Asp120ThrfsTer2 |