Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43115726_43125483del , CM000679.2:g.43115726_43125483del | GRCh38 |
| NC_000017.10:g.41267743_41277500del , CM000679.1:g.41267743_41277500del | GRCh37 |
| NC_000017.9:g.38521269_38531026del | NCBI36 |
| NG_005905.2:g.92504_102261del , LRG_292:g.92504_102261del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634433.2:c.-19-1365_134+3del | ||
| ENST00000652672.2:c.-483_-8+3del | ||
| ENST00000471181.7:c.-229_134+3del | ||
| ENST00000652672.1:c.-483_-8+3del | ||
| ENST00000471181.6:c.-229_134+3del | ||
| ENST00000634433.1:c.-19-1365_134+3del | ||
| NM_007294.3:c.-229_134+3del , LRG_292t1:c.-229_134+3del | ||
| NM_007300.3:c.-229_134+3del |