Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782451_58782453del , CM000663.2:g.58782451_58782453del | GRCh38 |
| NC_000001.10:g.59248123_59248125del , CM000663.1:g.59248123_59248125del | GRCh37 |
| NC_000001.9:g.59020711_59020713del | NCBI36 |
| NG_047027.1:g.6666_6668del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.689_691del | ENSP00000518166.1:p.Pro230del | |
| ENST00000371222.4:c.623_625del MANE Select | ENSP00000360266.2:p.Pro208del | |
| ENST00000678696.1:c.623_625del | ENSP00000503132.1:p.Pro208del | |
| ENST00000371222.3:c.623_625del | ENSP00000360266.2:p.Pro208del | |
| NM_002228.3:c.623_625del | NP_002219.1:p.Pro208del | |
| NM_002228.4:c.623_625del MANE Select | NP_002219.1:p.Pro208del |