Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562633del , CM000682.2:g.57562633del | GRCh38 |
| NC_000020.10:g.56137689del , CM000682.1:g.56137689del | GRCh37 |
| NC_000020.9:g.55571095del | NCBI36 |
| NG_008205.1:g.6553del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002591.4:c.407-63del MANE Select | NP_002582.3:n.407-63del |
| ENST00000319441.6:c.407-63del MANE Select | ENSP00000319814.4:n.407-63del |
| NM_002591.3:c.407-63del | NP_002582.3:n.407-63del |
| ENST00000319441.5:c.407-63del | ENSP00000319814.4:n.407-63del |
| ENST00000467047.1:n.1554del | |
| ENST00000498194.1:n.286del | |
| XM_011528839.1:c.11-63del | XP_011527141.1:n.11-63del |
| XM_024451888.1:c.11-63del | XP_024307656.1:n.11-63del |