Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312462del , CM000676.2:g.21312462del | GRCh38 |
| NC_000014.8:g.21780621del , CM000676.1:g.21780621del | GRCh37 |
| NC_000014.7:g.20850461del | NCBI36 |
| NG_008933.1:g.29486del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020366.4:c.1107del MANE Select | NP_065099.3:p.Glu370AsnfsTer5 |
| ENST00000400017.7:c.1107del MANE Select | ENSP00000382895.2:p.Glu370AsnfsTer5 |
| NM_020366.3:c.1107del | NP_065099.3:p.Glu370AsnfsTer5 |
| ENST00000400017.6:c.1107del | ENSP00000382895.2:p.Glu370AsnfsTer5 |
| ENST00000556336.5:c.1026del | ENSP00000450445.1:p.Glu343AsnfsTer5 |
| ENST00000557771.5:c.1026del | ENSP00000451219.1:p.Glu343AsnfsTer5 |
| XM_011536983.1:c.1074del | XP_011535285.1:p.Glu359AsnfsTer5 |