Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169552609del , CM000663.2:g.169552609del | GRCh38 |
| NC_000001.10:g.169521847del , CM000663.1:g.169521847del | GRCh37 |
| NC_000001.9:g.167788471del | NCBI36 |
| NG_011806.1:g.38924del , LRG_553:g.38924del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1245del MANE Select | ENSP00000356771.3:p.Asp416MetfsTer? | |
| ENST00000367796.3:c.1245del | ENSP00000356770.3:p.Asp416MetfsTer? | |
| ENST00000367797.7:c.1245del | ENSP00000356771.3:p.Asp416MetfsTer? | |
| NM_000130.4:c.1245del , LRG_553t1:c.1245del | NP_000121.2:p.Asp416MetfsTer? | |
| XM_017000660.2:c.834del | XP_016856149.1:p.Asp279MetfsTer? | |
| NM_000130.5:c.1245del MANE Select | NP_000121.2:p.Asp416MetfsTer? |