Linked Data
gnomAD v4:
4-24799908-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799912del , CM000666.2:g.24799912del | GRCh38 |
| NC_000004.11:g.24801534del , CM000666.1:g.24801534del | GRCh37 |
| NC_000004.10:g.24410632del | NCBI36 |
| NG_012213.1:g.9450del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.391del MANE Select | ENSP00000371554.3:p.His131ThrfsTer? | |
| ENST00000382120.3:c.391del | ENSP00000371554.3:p.His131ThrfsTer? | |
| NM_003102.2:c.391del | NP_003093.2:p.His131ThrfsTer? | |
| XR_427488.1:n.581del | ||
| NM_003102.3:c.391del | NP_003093.2:p.His131ThrfsTer? | |
| NM_003102.4:c.391del MANE Select | NP_003093.2:p.His131ThrfsTer? |