ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764671_169764672del , CM000665.2:g.169764671_169764672del | GRCh38 |
| NC_000003.11:g.169482459_169482460del , CM000665.1:g.169482459_169482460del | GRCh37 |
| NC_000003.10:g.170965153_170965154del | NCBI36 |
| NG_016363.1:g.5391_5392del , LRG_347:g.5391_5392del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001566.1:n.391_392del , LRG_347t1:n.391_392del |