Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071511del , CM000667.2:g.111071511del | GRCh38 |
| NC_000005.9:g.110407209del , CM000667.1:g.110407209del | GRCh37 |
| NC_000005.8:g.110435108del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420978.6:c.28del | ENSP00000399099.2:p.Glu10ArgfsTer14 | |
| NR_045089.1:n.1432del | ||
| NR_045089.2:n.1450del |