Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86511508del , CM000678.2:g.86511508del | GRCh38 |
| NC_000016.9:g.86545114del , CM000678.1:g.86545114del | GRCh37 |
| NC_000016.8:g.85102615del | NCBI36 |
| NG_016273.1:g.5982del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262426.6:c.939del MANE Select | ENSP00000262426.4:p.Leu314CysfsTer? | |
| ENST00000262426.5:c.939del | ENSP00000262426.4:p.Leu314CysfsTer? | |
| NM_001451.2:c.939del | NP_001442.2:p.Leu314CysfsTer? | |
| NM_001451.3:c.939del MANE Select | NP_001442.2:p.Leu314CysfsTer? |