Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562885del , CM000682.2:g.57562885del | GRCh38 |
| NC_000020.10:g.56137941del , CM000682.1:g.56137941del | GRCh37 |
| NC_000020.9:g.55571347del | NCBI36 |
| NG_008205.1:g.6805del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.596del MANE Select | ENSP00000319814.4:p.Pro199LeufsTer18 | |
| ENST00000319441.5:c.596del | ENSP00000319814.4:p.Pro199LeufsTer18 | |
| ENST00000467047.1:n.1806del | ||
| ENST00000470051.1:n.52del | ||
| ENST00000498194.1:n.538del | ||
| NM_002591.3:c.596del | NP_002582.3:p.Pro199LeufsTer18 | |
| XM_011528839.1:c.200del | XP_011527141.1:p.Pro67LeufsTer18 | |
| XM_024451888.1:c.200del | XP_024307656.1:p.Pro67LeufsTer18 | |
| NM_002591.4:c.596del MANE Select | NP_002582.3:p.Pro199LeufsTer18 |