Linked Data
gnomAD v4:
17-42404606-CAGCCAGCTCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404611_42404620del , CM000679.2:g.42404611_42404620del | GRCh38 |
| NC_000017.10:g.40556629_40556638del , CM000679.1:g.40556629_40556638del | GRCh37 |
| NC_000017.9:g.37810155_37810164del | NCBI36 |
| NG_015845.1:g.23705_23714del | |
| NG_015845.2:g.23705_23714del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.*71_*80del MANE Select | ENSP00000349541.4:n.*71_*80del | |
| ENST00000357037.5:c.*71_*80del | ENSP00000349541.4:n.*71_*80del | |
| NM_012232.5:c.*71_*80del | NP_036364.2:n.*71_*80del | |
| NM_012232.6:c.*71_*80del MANE Select | NP_036364.2:n.*71_*80del |