Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7417762_7417764del , CM000679.2:g.7417762_7417764del | GRCh38 |
| NC_000017.10:g.7321081_7321083del , CM000679.1:g.7321081_7321083del | GRCh37 |
| NC_000017.9:g.7261805_7261807del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020795.4:c.2471_2473del MANE Select | NP_065846.1:p.Asn824del |
| ENST00000302926.7:c.2471_2473del MANE Select | ENSP00000305288.2:p.Asn824del |
| NM_020795.3:c.2471_2473del | NP_065846.1:p.Asn824del |
| ENST00000302926.6:c.2471_2473del | ENSP00000305288.2:p.Asn824del |
| ENST00000575301.5:c.2471_2473del | ENSP00000461168.1:p.Asn824del |
| XM_005256744.2:c.2420_2422del | XP_005256801.1:p.Asn807del |
| XM_005256744.4:c.2420_2422del | XP_005256801.1:p.Asn807del |
| XM_017024897.1:c.1934_1936del | XP_016880386.1:p.Asn645del |