Linked Data
gnomAD v4:
16-67435992-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67435994del , CM000678.2:g.67435994del | GRCh38 |
| NC_000016.9:g.67469897del , CM000678.1:g.67469897del | GRCh37 |
| NC_000016.8:g.66027398del | NCBI36 |
| NG_016549.1:g.9862del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.516del MANE Select | ENSP00000316786.5:p.Val173Ter | |
| ENST00000326152.5:c.516del | ENSP00000316786.5:p.Val173Ter | |
| ENST00000566606.1:c.494del | ENSP00000473429.1:n.494del | |
| ENST00000567684.2:n.379del | ||
| NM_000196.3:c.516del | NP_000187.3:p.Val173Ter | |
| NM_000196.4:c.516del MANE Select | NP_000187.3:p.Val173Ter |