Linked Data
gnomAD v4:
12-52651971-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651972del , CM000674.2:g.52651972del | GRCh38 |
| NC_000012.11:g.53045756del , CM000674.1:g.53045756del | GRCh37 |
| NC_000012.10:g.51332023del | NCBI36 |
| NG_008296.1:g.5204del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.171del MANE Select | ENSP00000310861.3:p.Phe58LeufsTer? | |
| ENST00000309680.3:c.171del | ENSP00000310861.3:p.Phe58LeufsTer? | |
| NM_000423.2:c.171del | NP_000414.2:p.Phe58LeufsTer? | |
| NM_000423.3:c.171del MANE Select | NP_000414.2:p.Phe58LeufsTer? |