Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877556_240877571del , CM000664.2:g.240877556_240877571del | GRCh38 |
| NC_000002.11:g.241816973_241816988del , CM000664.1:g.241816973_241816988del | GRCh37 |
| NC_000002.10:g.241465646_241465661del | NCBI36 |
| NG_008005.1:g.13812_13827del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.866_881del MANE Select | ENSP00000302620.3:p.Arg289ProfsTer18 | |
| ENST00000307503.3:c.866_881del | ENSP00000302620.3:p.Arg289ProfsTer18 | |
| ENST00000470255.1:n.644_659del | ||
| NM_000030.2:c.866_881del | NP_000021.1:p.Arg289ProfsTer18 | |
| NM_000030.3:c.866_881del MANE Select | NP_000021.1:p.Arg289ProfsTer18 |