Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158120_228158156del , CM000663.2:g.228158120_228158156del | GRCh38 |
| NC_000001.10:g.228345821_228345857del , CM000663.1:g.228345821_228345857del | GRCh37 |
| NC_000001.9:g.226412444_226412480del | NCBI36 |
| NG_011838.1:g.13269_13305del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366714.3:c.362_398del MANE Select | ENSP00000355675.2:p.Arg121ProfsTer? | |
| ENST00000366714.2:c.362_398del | ENSP00000355675.2:p.Arg121ProfsTer? | |
| NM_020435.3:c.362_398del | NP_065168.2:p.Arg121ProfsTer? | |
| NM_020435.4:c.362_398del MANE Select | NP_065168.2:p.Arg121ProfsTer? |