Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641538del , CM000682.2:g.10641538del | GRCh38 |
| NC_000020.10:g.10622186del , CM000682.1:g.10622186del | GRCh37 |
| NC_000020.9:g.10570186del | NCBI36 |
| NG_007496.1:g.37511del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.2840del MANE Select | ENSP00000254958.4:p.Lys947SerfsTer23 | |
| ENST00000254958.9:c.2840del | ENSP00000254958.4:p.Lys947SerfsTer23 | |
| ENST00000423891.6:n.2706del | ||
| NM_000214.2:c.2840del | NP_000205.1:p.Lys947SerfsTer23 | |
| NM_000214.3:c.2840del MANE Select | NP_000205.1:p.Lys947SerfsTer23 |