Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071530_111071540del , CM000667.2:g.111071530_111071540del | GRCh38 |
| NC_000005.9:g.110407228_110407238del , CM000667.1:g.110407228_110407238del | GRCh37 |
| NC_000005.8:g.110435127_110435137del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420978.6:c.34+13_34+23del | ENSP00000399099.2:n.34+13_34+23del | |
| NR_045089.1:n.1438+13_1438+23del | ||
| NR_045089.2:n.1456+13_1456+23del |