Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226992_5227096del , CM000673.2:g.5226992_5227096del | GRCh38 |
| NC_000011.9:g.5248222_5248326del , CM000673.1:g.5248222_5248326del | GRCh37 |
| NC_000011.8:g.5204798_5204902del | NCBI36 |
| NG_000007.3:g.70521_70625del | |
| NG_059281.1:g.4977_5081del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.-74_31del | ||
| ENST00000380315.2:c.-18-56_31del |