Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822750del , CM000673.2:g.116822750del | GRCh38 |
| NC_000011.9:g.116693466del , CM000673.1:g.116693466del | GRCh37 |
| NC_000011.8:g.116198676del | NCBI36 |
| NG_012044.1:g.5546del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.85del MANE Select | ENSP00000350425.3:p.Thr29ArgfsTer2 | |
| ENST00000357780.4:c.85del | ENSP00000350425.3:p.Thr29ArgfsTer2 | |
| NM_000482.3:c.85del | NP_000473.2:p.Thr29ArgfsTer2 | |
| NM_000482.4:c.85del MANE Select | NP_000473.2:p.Thr29ArgfsTer2 |