Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57563590del , CM000682.2:g.57563590del | GRCh38 |
| NC_000020.10:g.56138646del , CM000682.1:g.56138646del | GRCh37 |
| NC_000020.9:g.55572052del | NCBI36 |
| NG_008205.1:g.7510del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002591.4:c.824del MANE Select | NP_002582.3:p.Gly275ValfsTer21 |
| ENST00000319441.6:c.824del MANE Select | ENSP00000319814.4:p.Gly275ValfsTer21 |
| NM_002591.3:c.824del | NP_002582.3:p.Gly275ValfsTer21 |
| ENST00000319441.5:c.824del | ENSP00000319814.4:p.Gly275ValfsTer21 |
| ENST00000467047.1:n.2511del | |
| ENST00000470051.1:n.408del | |
| ENST00000498194.1:n.766del | |
| XM_011528839.1:c.428del | XP_011527141.1:p.Gly143ValfsTer21 |
| XM_024451888.1:c.428del | XP_024307656.1:p.Gly143ValfsTer21 |