Linked Data
gnomAD v4:
4-24799697-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799699del , CM000666.2:g.24799699del | GRCh38 |
| NC_000004.11:g.24801321del , CM000666.1:g.24801321del | GRCh37 |
| NC_000004.10:g.24410419del | NCBI36 |
| NG_012213.1:g.9237del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.178del MANE Select | ENSP00000371554.3:p.His60ThrfsTer19 | |
| ENST00000382120.3:c.178del | ENSP00000371554.3:p.His60ThrfsTer19 | |
| NM_003102.2:c.178del | NP_003093.2:p.His60ThrfsTer19 | |
| XR_427488.1:n.368del | ||
| NM_003102.3:c.178del | NP_003093.2:p.His60ThrfsTer19 | |
| NM_003102.4:c.178del MANE Select | NP_003093.2:p.His60ThrfsTer19 |