Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74531546del , CM000685.2:g.74531546del | GRCh38 |
| NC_000023.10:g.73751381del , CM000685.1:g.73751381del | GRCh37 |
| NC_000023.9:g.73668106del | NCBI36 |
| NG_011641.1:g.115297del | |
| NG_011641.2:g.115297del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.1613del MANE Select | ENSP00000465734.1:p.Pro538GlnfsTer? | |
| ENST00000636771.1:c.1522del | ||
| ENST00000587091.5:c.1613del | ENSP00000465734.1:p.Pro538GlnfsTer? | |
| ENST00000590447.1:c.824del | ||
| NM_006517.4:c.1613del | NP_006508.2:p.Pro538GlnfsTer? | |
| XM_005262294.1:c.*136del | XP_005262351.1:n.*136del | |
| NM_006517.5:c.1613del MANE Select | NP_006508.2:p.Pro538GlnfsTer? |