Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42544436del , CM000679.2:g.42544436del | GRCh38 |
| NC_000017.10:g.40696454del , CM000679.1:g.40696454del | GRCh37 |
| NC_000017.9:g.37949980del | NCBI36 |
| NG_011552.1:g.13504del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000263.4:c.*198del MANE Select | NP_000254.2:n.*198del |
| ENST00000225927.7:c.*198del MANE Select | ENSP00000225927.1:n.*198del |
| NM_000263.3:c.*198del | NP_000254.2:n.*198del |
| ENST00000225927.6:c.*198del | ENSP00000225927.1:n.*198del |
| XM_006721920.2:c.*198del | XP_006721983.1:n.*198del |
| XM_011524840.1:c.*198del | XP_011523142.1:n.*198del |
| XM_017024687.1:c.*198del | XP_016880176.1:n.*198del |
| XM_024450771.1:c.*198del | XP_024306539.1:n.*198del |
| XM_024450772.1:c.*198del | XP_024306540.1:n.*198del |