Linked Data
ClinVar Variation Id:
192296
ClinVar RCV Id:
RCV000172872
dbSNP Id:
rs786205897
gnomAD v2:
16-57490558-AG-A
gnomAD v4:
16-57456646-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57456647del , CM000678.2:g.57456647del | GRCh38 |
| NC_000016.9:g.57490559del , CM000678.1:g.57490559del | GRCh37 |
| NC_000016.8:g.56048060del | NCBI36 |
| NG_027696.1:g.14223del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.521+1del MANE Select | ENSP00000262507.5:n.521+1del | |
| ENST00000262507.10:c.521+1del | ENSP00000262507.5:n.521+1del | |
| ENST00000562426.5:n.504+21del | ||
| ENST00000562734.5:n.546del | ||
| ENST00000563166.1:c.303+3732del | ENSP00000455495.1:n.303+3732del | |
| ENST00000563391.1:c.113+1del | ENSP00000455516.1:n.113+1del | |
| ENST00000564115.5:c.521+1del | ENSP00000455256.1:n.521+1del | |
| ENST00000564655.5:c.533+1del | ENSP00000454992.1:n.533+1del | |
| ENST00000565964.5:c.379-1599del | ENSP00000458023.1:n.379-1599del | |
| ENST00000567072.5:c.501+21del | ENSP00000456728.1:n.501+21del | |
| ENST00000567480.1:n.462del | ||
| ENST00000567576.1:n.244+1del | ||
| ENST00000567933.5:c.379-2918del | ENSP00000456174.1:n.379-2918del | |
| ENST00000568790.5:n.545+1del | ||
| NM_020312.3:c.521+1del | NP_064708.1:n.521+1del | |
| NM_020312.4:c.521+1del MANE Select | NP_064708.1:n.521+1del |