Linked Data
gnomAD v4:
8-19954264-ATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954266_19954267del , CM000670.2:g.19954266_19954267del | GRCh38 |
| NC_000008.10:g.19811777_19811778del , CM000670.1:g.19811777_19811778del | GRCh37 |
| NC_000008.9:g.19856057_19856058del | NCBI36 |
| NG_008855.1:g.20196_20197del | |
| NG_008855.2:g.57550_57551del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.688_689del MANE Select | ENSP00000497642.1:p.Val230Ter | |
| ENST00000311322.8:c.688_689del | ENSP00000309757.6:p.Val230Ter | |
| NM_000237.2:c.688_689del | NP_000228.1:p.Val230Ter | |
| NM_000237.3:c.688_689del MANE Select | NP_000228.1:p.Val230Ter |