Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7689938del , CM000674.2:g.7689938del | GRCh38 |
| NC_000012.11:g.7842534del , CM000674.1:g.7842534del | GRCh37 |
| NC_000012.10:g.7733801del | NCBI36 |
| NG_028167.1:g.10827del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020634.3:c.1035del MANE Select | NP_065685.1:p.Asn345LysfsTer13 |
| ENST00000329913.4:c.1035del MANE Select | ENSP00000331745.3:p.Asn345LysfsTer13 |
| NM_020634.1:c.1035del | NP_065685.1:p.Asn345LysfsTer13 |
| NM_020634.2:c.1035del | NP_065685.1:p.Asn345LysfsTer13 |
| ENST00000329913.3:c.1035del | ENSP00000331745.3:p.Asn345LysfsTer13 |