Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578649_110578651del , CM000672.2:g.110578649_110578651del | GRCh38 |
| NC_000010.10:g.112338407_112338409del , CM000672.1:g.112338407_112338409del | GRCh37 |
| NC_000010.9:g.112328397_112328399del | NCBI36 |
| NG_012217.1:g.15959_15961del , LRG_774:g.15959_15961del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.505_507del | ||
| ENST00000687823.1:n.286_288del | ||
| ENST00000689932.1:n.2435_2437del | ||
| ENST00000691297.1:n.505_507del | ||
| ENST00000691527.1:n.1175_1177del | ||
| ENST00000692792.1:n.491_493del | ||
| ENST00000361804.5:c.372_374del MANE Select | ENSP00000354720.5:p.Leu125del | |
| ENST00000361804.4:c.372_374del | ENSP00000354720.4:p.Leu125del | |
| ENST00000462899.1:n.518_520del | ||
| NM_005445.3:c.372_374del , LRG_774t1:c.372_374del | NP_005436.1:p.Leu125del | |
| NM_005445.4:c.372_374del MANE Select | NP_005436.1:p.Leu125del |