Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404699_42404700del , CM000679.2:g.42404699_42404700del | GRCh38 |
| NC_000017.10:g.40556717_40556718del , CM000679.1:g.40556717_40556718del | GRCh37 |
| NC_000017.9:g.37810243_37810244del | NCBI36 |
| NG_015845.1:g.23622_23623del | |
| NG_015845.2:g.23622_23623del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1161_1162del MANE Select | ENSP00000349541.4:p.Ser387ArgfsTer? | |
| ENST00000357037.5:c.1161_1162del | ENSP00000349541.4:p.Ser387ArgfsTer? | |
| NM_012232.5:c.1161_1162del | NP_036364.2:p.Ser387ArgfsTer? | |
| NM_012232.6:c.1161_1162del MANE Select | NP_036364.2:p.Ser387ArgfsTer? |