Identifiers and link-outs to other resources
ClinVar Variation Id:
287784
ClinVar RCV Id:
RCV000272935
dbSNP Id:
rs886043728
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013353_25013381del , CM000685.2:g.25013353_25013381del | GRCh38 |
| NC_000023.10:g.25031470_25031498del , CM000685.1:g.25031470_25031498del | GRCh37 |
| NC_000023.9:g.24941391_24941419del | NCBI36 |
| NG_008281.1:g.7562_7590del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_139058.2:c.608_636del VV | NP_620689.1:p.Leu205ProfsTer23 | |
| NM_139058.3:c.608_636del VV MANE Preferred | NP_620689.1:p.Leu205ProfsTer23 | |
| ENST00000379044.4:c.608_636del | ENSP00000368332.4:p.Leu205ProfsTer23 |