Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107715880del , CM000669.2:g.107715880del | GRCh38 |
| NC_000007.13:g.107356325del , CM000669.1:g.107356325del | GRCh37 |
| NC_000007.12:g.107143561del | NCBI36 |
| NG_008489.1:g.60246del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.*434del MANE Select | ENSP00000494017.1:n.*434del | |
| ENST00000644846.1:c.1433del | ||
| ENST00000265715.7:c.*434del | ENSP00000265715.3:n.*434del | |
| NM_000441.1:c.*434del | NP_000432.1:n.*434del | |
| XM_005250425.2:c.*434del | XP_005250482.1:n.*434del | |
| XM_017012318.1:c.*434del | XP_016867807.1:n.*434del | |
| NM_000441.2:c.*434del MANE Select | NP_000432.1:n.*434del |