ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169764950_169764953del , CM000665.2:g.169764950_169764953del | GRCh38 |
| NC_000003.11:g.169482738_169482741del , CM000665.1:g.169482738_169482741del | GRCh37 |
| NC_000003.10:g.170965432_170965435del | NCBI36 |
| NG_016363.1:g.5110_5113del , LRG_347:g.5110_5113del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001566.1:n.110_113del , LRG_347t1:n.110_113del |