Linked Data
gnomAD v4:
17-8086106-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086109_8086110del , CM000679.2:g.8086109_8086110del | GRCh38 |
| NC_000017.10:g.7989427_7989428del , CM000679.1:g.7989427_7989428del | GRCh37 |
| NC_000017.9:g.7930152_7930153del | NCBI36 |
| NG_007099.1:g.6596_6597del | |
| NG_007099.2:g.6609_6610del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.260_261del MANE Select | ENSP00000497784.1:p.Val87AlafsTer? | |
| ENST00000319144.4:c.260_261del | ENSP00000315167.4:p.Val87AlafsTer? | |
| NM_001139.2:c.260_261del | NP_001130.1:p.Val87AlafsTer? | |
| NM_001139.3:c.260_261del MANE Select | NP_001130.1:p.Val87AlafsTer? |