Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23646091del , CM000677.2:g.23646091del | GRCh38 |
| NC_000015.9:g.23891238del , CM000677.1:g.23891238del | GRCh37 |
| NC_000015.8:g.21442331del | NCBI36 |
| NG_016776.1:g.6756del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650528.1:c.1652del MANE Select | ENSP00000497810.1:p.Val551AspfsTer? | |
| ENST00000532292.2:c.1652del | ENSP00000433433.2:p.Val551AspfsTer? | |
| NM_019066.4:c.1652del | NP_061939.3:p.Val551AspfsTer? | |
| NM_019066.5:c.1652del MANE Select | NP_061939.3:p.Val551AspfsTer? |