Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141759_10141797del , CM000665.2:g.10141759_10141797del | GRCh38 |
| NC_000003.11:g.10183443_10183481del , CM000665.1:g.10183443_10183481del | GRCh37 |
| NC_000003.10:g.10158443_10158481del | NCBI36 |
| NG_008212.3:g.5125_5163del , LRG_322:g.5125_5163del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256474.2:c.-89_-51del | ENSP00000256474.2:n.-89_-51del | |
| NM_000551.3:c.-89_-51del , LRG_322t1:c.-89_-51del | NP_000542.1:n.-89_-51del | |
| NM_198156.2:c.-89_-51del | NP_937799.1:n.-89_-51del | |
| NM_001354723.1:c.-89_-51del | NP_001341652.1:n.-89_-51del |