Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147830564_147831899del , CM000667.2:g.147830564_147831899del | GRCh38 |
| NC_000005.9:g.147210127_147211462del , CM000667.1:g.147210127_147211462del | GRCh37 |
| NC_000005.8:g.147190320_147191655del | NCBI36 |
| NG_008356.2:g.12335_13670del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_003122.4:c.-191-129_56-932del | ||
| NM_001354966.1:c.-224-96_56-932del | ||
| NM_001354966.2:c.-224-96_56-932del | ||
| NM_003122.5:c.-191-129_56-932del |