Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322601_73322602del , CM000677.2:g.73322601_73322602del | GRCh38 |
| NC_000015.9:g.73614942_73614943del , CM000677.1:g.73614942_73614943del | GRCh37 |
| NC_000015.8:g.71401995_71401996del | NCBI36 |
| NG_009063.1:g.51665_51666del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3493_3494del MANE Select | ENSP00000261917.3:p.Leu1165ValfsTer28 | |
| ENST00000261917.3:c.3493_3494del | ENSP00000261917.3:p.Leu1165ValfsTer28 | |
| NM_005477.2:c.3493_3494del | NP_005468.1:p.Leu1165ValfsTer28 | |
| XM_011521148.1:c.2275_2276del | XP_011519450.1:p.Leu759ValfsTer28 | |
| XM_011521148.2:c.2275_2276del | XP_011519450.1:p.Leu759ValfsTer28 | |
| NM_005477.3:c.3493_3494del MANE Select | NP_005468.1:p.Leu1165ValfsTer28 |