Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751034_27751037del , CM000684.2:g.27751034_27751037del | GRCh38 |
| NC_000022.10:g.28147022_28147025del , CM000684.1:g.28147022_28147025del | GRCh37 |
| NC_000022.9:g.26477022_26477025del | NCBI36 |
| NG_023258.1:g.55467_55470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.371_374del | ||
| ENST00000302326.5:c.3846_3849del MANE Select | ENSP00000304956.4:p.Val1283ThrfsTer? | |
| ENST00000302326.4:c.3846_3849del | ENSP00000304956.4:p.Val1283ThrfsTer? | |
| ENST00000424656.1:c.199_202del | ||
| ENST00000497225.1:n.202_205del | ||
| NM_002430.2:c.3846_3849del | NP_002421.3:p.Val1283ThrfsTer? | |
| NM_002430.3:c.3846_3849del MANE Select | NP_002421.3:p.Val1283ThrfsTer? |