Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320415_159320419del , CM000667.2:g.159320415_159320419del | GRCh38 |
| NC_000005.9:g.158747423_158747427del , CM000667.1:g.158747423_158747427del | GRCh37 |
| NC_000005.8:g.158680001_158680005del | NCBI36 |
| NG_009618.1:g.15057_15061del , LRG_71:g.15057_15061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-45_-41del | ENSP00000512849.1:n.-45_-41del | |
| ENST00000696751.1:c.*81_*85del | ENSP00000512850.1:n.*81_*85del | |
| ENST00000231228.3:c.586_590del MANE Select | ENSP00000231228.2:p.Asp196CysfsTer6 | |
| ENST00000231228.2:c.586_590del | ENSP00000231228.2:p.Asp196CysfsTer6 | |
| NM_002187.2:c.586_590del , LRG_71t1:c.586_590del | NP_002178.2:p.Asp196CysfsTer6 | |
| NM_002187.3:c.586_590del MANE Select | NP_002178.2:p.Asp196CysfsTer6 |