Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316022_159316033del , CM000667.2:g.159316022_159316033del | GRCh38 |
| NC_000005.9:g.158743030_158743041del , CM000667.1:g.158743030_158743041del | GRCh37 |
| NC_000005.8:g.158675608_158675619del | NCBI36 |
| NG_009618.1:g.19441_19452del , LRG_71:g.19441_19452del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.*68_*79del | ENSP00000512849.1:n.*68_*79del | |
| ENST00000696751.1:c.*550_*561del | ENSP00000512850.1:n.*550_*561del | |
| ENST00000231228.3:c.*68_*79del MANE Select | ENSP00000231228.2:n.*68_*79del | |
| ENST00000231228.2:c.*68_*79del | ENSP00000231228.2:n.*68_*79del | |
| NM_002187.2:c.*68_*79del , LRG_71t1:c.*68_*79del | NP_002178.2:n.*68_*79del | |
| NM_002187.3:c.*68_*79del MANE Select | NP_002178.2:n.*68_*79del |