Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562851del , CM000682.2:g.57562851del | GRCh38 |
| NC_000020.10:g.56137907del , CM000682.1:g.56137907del | GRCh37 |
| NC_000020.9:g.55571313del | NCBI36 |
| NG_008205.1:g.6771del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.562del MANE Select | ENSP00000319814.4:p.Glu188SerfsTer29 | |
| ENST00000319441.5:c.562del | ENSP00000319814.4:p.Glu188SerfsTer29 | |
| ENST00000467047.1:n.1772del | ||
| ENST00000470051.1:n.18del | ||
| ENST00000498194.1:n.504del | ||
| NM_002591.3:c.562del | NP_002582.3:p.Glu188SerfsTer29 | |
| XM_011528839.1:c.166del | XP_011527141.1:p.Glu56SerfsTer29 | |
| XM_024451888.1:c.166del | XP_024307656.1:p.Glu56SerfsTer29 | |
| NM_002591.4:c.562del MANE Select | NP_002582.3:p.Glu188SerfsTer29 |