ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764842del , CM000665.2:g.169764842del | GRCh38 |
| NC_000003.11:g.169482630del , CM000665.1:g.169482630del | GRCh37 |
| NC_000003.10:g.170965324del | NCBI36 |
| NG_016363.1:g.5221del , LRG_347:g.5221del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001566.1:n.221del , LRG_347t1:n.221del |