Linked Data
gnomAD v4:
12-52675440-CCTCCGGAGCCGTAGCTGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675441_52675459del , CM000674.2:g.52675441_52675459del | GRCh38 |
| NC_000012.11:g.53069225_53069243del , CM000674.1:g.53069225_53069243del | GRCh37 |
| NC_000012.10:g.51355492_51355510del | NCBI36 |
| NG_008364.1:g.9949_9967del | |
| NG_008364.2:g.9949_9967del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1669_1687del MANE Select | ENSP00000252244.3:p.Ser557ValfsTer? | |
| NM_006121.3:c.1669_1687del | NP_006112.3:p.Ser557ValfsTer? | |
| NM_006121.4:c.1669_1687del MANE Select | NP_006112.3:p.Ser557ValfsTer? |