Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173234750_173235312del , CM000667.2:g.173234750_173235312del | GRCh38 |
| NC_000005.9:g.172661753_172662315del , CM000667.1:g.172661753_172662315del | GRCh37 |
| NC_000005.8:g.172594359_172594921del | NCBI36 |
| NG_013340.1:g.5002_5564del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.4:c.-228_334+1del | ||
| NM_001166175.1:c.-228_334+1del | ||
| NM_001166176.1:c.-228_334+1del | ||
| NM_004387.3:c.-228_334+1del | ||
| XM_017009071.2:c.-228_334+1del |