Linked Data
ClinVar Variation Id:
801172
ClinVar RCV Id:
RCV000985720
dbSNP Id:
rs1596570339
gnomAD v4:
16-173493-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173494del , CM000678.2:g.173494del | GRCh38 |
| NC_000016.9:g.223493del , CM000678.1:g.223493del | GRCh37 |
| NC_000016.8:g.163493del | NCBI36 |
| NG_000006.1:g.34357del | |
| NG_059186.1:g.1844del | |
| NG_059271.1:g.5648del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.323del MANE Select | ENSP00000251595.6:p.Val108GlyfsTer26 | |
| ENST00000251595.10:c.323del | ENSP00000251595.6:p.Val108GlyfsTer26 | |
| ENST00000397806.1:c.227del | ENSP00000380908.1:p.Val76GlyfsTer26 | |
| ENST00000482565.1:n.459del | ||
| NM_000517.4:c.323del | NP_000508.1:p.Val108GlyfsTer26 | |
| NM_000517.6:c.323del MANE Select | NP_000508.1:p.Val108GlyfsTer26 |