ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21004453del , CM000664.2:g.21004453del | GRCh38 |
| NC_000002.11:g.21227325del , CM000664.1:g.21227325del | GRCh37 |
| NC_000002.10:g.21080830del | NCBI36 |
| NG_011793.1:g.44623del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.11905del | ||
| ENST00000616098.4:c.11905del | ||
| NM_000384.2:c.11905del | ||
| XM_011532809.1:c.5870-5178del | XP_011531111.1:n.5870-5178del | |
| NM_000384.3:c.11905del |