Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891452del , CM000673.2:g.128891452del | GRCh38 |
| NC_000011.9:g.128761347del , CM000673.1:g.128761347del | GRCh37 |
| NC_000011.8:g.128266557del | NCBI36 |
| NG_023406.2:g.5035del , LRG_333:g.5035del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-280del MANE Select | ENSP00000433295.1:n.-280del | |
| ENST00000529694.5:c.-280del | ENSP00000433295.1:n.-280del | |
| NM_000890.3:c.-280del , LRG_333t1:c.-280del | NP_000881.3:n.-280del | |
| NM_000890.4:c.-280del | NP_000881.3:n.-280del | |
| NM_001354169.1:c.-369del | NP_001341098.1:n.-369del | |
| NM_000890.5:c.-280del MANE Select | NP_000881.3:n.-280del | |
| NM_001354169.2:c.-369del | NP_001341098.1:n.-369del |