Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981473_48981476dup , CM000674.2:g.48981473_48981476dup | GRCh38 |
| NC_000012.11:g.49375256_49375259dup , CM000674.1:g.49375256_49375259dup | GRCh37 |
| NC_000012.10:g.47661523_47661526dup | NCBI36 |
| NG_033141.1:g.8021_8024dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.946_949dup MANE Select | NP_005421.1:p.Ser317LysfsTer? |
| ENST00000293549.4:c.946_949dup MANE Select | ENSP00000293549.3:p.Ser317LysfsTer? |
| NM_005430.3:c.946_949dup | NP_005421.1:p.Ser317LysfsTer? |
| ENST00000293549.3:c.946_949dup | ENSP00000293549.3:p.Ser317LysfsTer? |
| ENST00000613114.4:c.913_916dup | ENSP00000481240.1:p.Ser306LysfsTer? |