Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312495del , CM000676.2:g.21312495del | GRCh38 |
| NC_000014.8:g.21780654del , CM000676.1:g.21780654del | GRCh37 |
| NC_000014.7:g.20850494del | NCBI36 |
| NG_008933.1:g.29519del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1140del MANE Select | ENSP00000382895.2:p.Lys380AsnfsTer3 | |
| ENST00000400017.6:c.1140del | ENSP00000382895.2:p.Lys380AsnfsTer3 | |
| ENST00000556336.5:c.1059del | ENSP00000450445.1:p.Lys353AsnfsTer3 | |
| ENST00000557771.5:c.1059del | ENSP00000451219.1:p.Lys353AsnfsTer3 | |
| NM_020366.3:c.1140del | NP_065099.3:p.Lys380AsnfsTer3 | |
| XM_011536983.1:c.1107del | XP_011535285.1:p.Lys369AsnfsTer3 | |
| NM_020366.4:c.1140del MANE Select | NP_065099.3:p.Lys380AsnfsTer3 |