Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269994_31269998del , CM000668.2:g.31269994_31269998del | GRCh38 |
| NC_000006.11:g.31237771_31237775del , CM000668.1:g.31237771_31237775del | GRCh37 |
| NC_000006.10:g.31345750_31345754del | NCBI36 |
| NG_029422.2:g.7134_7138del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.983_987del MANE Select | ENSP00000365402.5:p.Val328GlyfsTer5 | |
| ENST00000376228.9:c.983_987del | ENSP00000365402.5:p.Val328GlyfsTer5 | |
| ENST00000376237.8:c.*570_*574del | ENSP00000365412.4:n.*570_*574del | |
| ENST00000383329.7:c.983_987del | ENSP00000372819.3:p.Val328GlyfsTer5 | |
| ENST00000470363.5:n.301_305del | ||
| ENST00000487245.5:n.1342_1346del | ||
| NM_002117.5:c.983_987del | NP_002108.4:p.Val328GlyfsTer5 | |
| NM_002117.6:c.983_987del MANE Select | NP_002108.4:p.Val328GlyfsTer5 |