Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151618119del , CM000668.2:g.151618119del | GRCh38 |
| NC_000006.11:g.151939254del , CM000668.1:g.151939254del | GRCh37 |
| NC_000006.10:g.151980947del | NCBI36 |
| NG_021198.1:g.129080del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.2120del MANE Select | ENSP00000239374.6:p.Pro707HisfsTer15 | |
| ENST00000239374.7:c.2120del | ENSP00000239374.6:p.Pro707HisfsTer15 | |
| NM_025059.3:c.2120del | NP_079335.2:p.Pro707HisfsTer15 | |
| XM_011536147.1:c.2138del | XP_011534449.1:p.Pro713HisfsTer15 | |
| XM_011536148.1:c.1937del | XP_011534450.1:p.Pro646HisfsTer15 | |
| XM_011536147.2:c.2138del | XP_011534449.1:p.Pro713HisfsTer15 | |
| XM_011536148.2:c.1937del | XP_011534450.1:p.Pro646HisfsTer15 | |
| NM_025059.4:c.2120del MANE Select | NP_079335.2:p.Pro707HisfsTer15 |