Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.35204481del , CM000669.2:g.35204481del | GRCh38 |
| NC_000007.13:g.35244093del , CM000669.1:g.35244093del | GRCh37 |
| NC_000007.12:g.35210618del | NCBI36 |
| NG_015805.1:g.54622del , LRG_755:g.54622del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408931.4:c.995del MANE Select | ENSP00000386170.3:p.Pro332GlnfsTer? | |
| ENST00000408931.3:c.995del | ENSP00000386170.3:p.Pro332GlnfsTer? | |
| NM_001077653.2:c.995del , LRG_755t1:c.995del MANE Select | NP_001071121.1:p.Pro332GlnfsTer? | |
| XM_017012456.1:c.398del | XP_016867945.1:p.Pro133GlnfsTer? |