Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110590007del , CM000672.2:g.110590007del | GRCh38 |
| NC_000010.10:g.112349765del , CM000672.1:g.112349765del | GRCh37 |
| NC_000010.9:g.112339755del | NCBI36 |
| NG_012217.1:g.27317del , LRG_774:g.27317del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.1509+16del MANE Select | NP_005436.1:n.1509+16del |
| ENST00000361804.5:c.1509+16del MANE Select | ENSP00000354720.5:n.1509+16del |
| NM_005445.3:c.1509+16del , LRG_774t1:c.1509+16del | NP_005436.1:n.1509+16del |
| ENST00000361804.4:c.1509+16del | ENSP00000354720.4:n.1509+16del |
| ENST00000684797.1:n.1409+16del | |
| ENST00000684988.1:n.2154+16del | |
| ENST00000687823.1:n.1423+16del | |
| ENST00000689932.1:n.3572+16del | |
| ENST00000691297.1:n.1642+16del | |
| ENST00000691527.1:n.2312+16del | |
| ENST00000692792.1:n.1628+16del |