Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071612del , CM000667.2:g.111071612del | GRCh38 |
| NC_000005.9:g.110407310del , CM000667.1:g.110407310del | GRCh37 |
| NC_000005.8:g.110435209del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420978.6:c.34+95del | ENSP00000399099.2:n.34+95del | |
| NR_045089.1:n.1438+95del | ||
| NR_045089.2:n.1456+95del |