Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33005822_33005913del , CM000668.2:g.33005822_33005913del | GRCh38 |
| NC_000006.11:g.32973599_32973690del , CM000668.1:g.32973599_32973690del | GRCh37 |
| NC_000006.10:g.33081577_33081668del | NCBI36 |
| NG_012007.1:g.8708_8799del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229829.7:c.*933_*1024del MANE Select | ENSP00000229829.3:n.*933_*1024del | |
| ENST00000229829.6:c.*933_*1024del | ENSP00000229829.3:n.*933_*1024del | |
| NM_002119.3:c.*933_*1024del | NP_002110.1:n.*933_*1024del | |
| NM_002119.4:c.*933_*1024del MANE Select | NP_002110.1:n.*933_*1024del |